J3QT58 · J3QT58_HUMAN

  • Protein
    Carboxypeptidase A2
  • Gene
    CPA2
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

118220406080100120140160180
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7477618802R>KExAC
gnomAD
rs7718470443L>VExAC
TOPMed
gnomAD
rs14655540684I>FgnomAD
rs17932162995L>PTOPMed
rs17932163696F>LEnsembl
rs17932164409A>DEnsembl
rs17932164409A>VEnsembl
rs179321652210L>HTOPMed
rs94486844911F>STOPMed
gnomAD
rs148080645211F>VgnomAD
rs20090800213H>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs20090800213H>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs115932569313H>YgnomAD
rs141757217915Y>CgnomAD
rs135968822715Y>HgnomAD
rs37143722216C>YESP
rs136619189818E>GgnomAD
rs75947143520F>LExAC
gnomAD
rs76494331122G>EExAC
gnomAD
rs37613199222G>RESP
TOPMed
gnomAD
rs74662231423D>NExAC
gnomAD
rs118562662026L>ITOPMed
gnomAD
rs179326016227E>AgnomAD
rs77613671928I>SExAC
TOPMed
gnomAD
COSV99744138
rs776136719
28I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs76975356229V>AExAC
TOPMed
gnomAD
rs74585764829V>IExAC
TOPMed
gnomAD
rs74585764829V>LExAC
TOPMed
gnomAD
rs116672553131S>CEnsembl
rs146242713032N>SgnomAD
rs116940952233E>KTOPMed
gnomAD
rs20013247636I>T1000Genomes
ExAC
TOPMed
gnomAD
rs76383628840L>PExAC
TOPMed
gnomAD
rs179326080741Q>*TOPMed
rs135958416343E>ATOPMed
rs131102378743E>KTOPMed
gnomAD
rs130984642244A>PTOPMed
gnomAD
rs130984642244A>TTOPMed
gnomAD
rs179326110046E>KgnomAD
rs131610687347H>PgnomAD
rs75663776048L>PExAC
TOPMed
gnomAD
rs75663776048L>RExAC
TOPMed
gnomAD
rs19969576549Q>*ESP
ExAC
TOPMed
gnomAD
rs179326133549Q>HEnsembl
rs179326129549Q>PEnsembl
rs211710222951D>HEnsembl
rs148137590452F>VgnomAD
rs14584943953W>*ESP
ExAC
TOPMed
gnomAD
rs143113760055S>PgnomAD
rs36975949756P>SESP
ExAC
TOPMed
gnomAD
rs76576022757T>PExAC
gnomAD
rs129812522558T>AgnomAD
rs134425235858T>NTOPMed
gnomAD
rs78123628859P>LTOPMed
gnomAD
rs78123628859P>RTOPMed
gnomAD
rs135925790860G>WgnomAD
rs127556434661E>DgnomAD
COSV55979195
rs1439201106
61E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs90647769062T>AEnsembl
rs139420788562T>RTOPMed
gnomAD
rs90647769062T>SEnsembl
rs179326967063A>VEnsembl
rs6199706565V>FBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000965439
rs61997065
65V>IBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs13846893066R>*1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75000247466R>QExAC
TOPMed
gnomAD
rs75567151567V>IExAC
TOPMed
gnomAD
COSV99744189
rs1055287172
68P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
COSV55981266
rs749226338
70V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs14258287972V>IESP
ExAC
TOPMed
gnomAD
rs14258287972V>LESP
ExAC
TOPMed
gnomAD
rs117859285373Q>*TOPMed
gnomAD
rs77222423575V>IExAC
gnomAD
rs90214166676K>TEnsembl
rs127618059877V>MTOPMed
gnomAD
rs77351775878F>LExAC
gnomAD
rs77678851382Q>*ExAC
TOPMed
gnomAD
VAR_031204
rs17850135
82E>G
UniProt
Ensembl
dbSNP
rs123966954882Q>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs76017622384I>LExAC
TOPMed
gnomAD
rs76581517184I>TExAC
gnomAD
rs76017622384I>VExAC
TOPMed
gnomAD
rs179327236885A>SEnsembl
rs130612588685A>VTOPMed
rs20163273086Y>CExAC
gnomAD
rs128899085588I>VgnomAD
rs144742517189M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
rs179327252789M>TEnsembl
rs156292008890I>NTOPMed
rs156292008890I>TTOPMed
rs76340260691E>DExAC
TOPMed
gnomAD
rs76431646092D>EExAC
TOPMed
gnomAD
rs75565550293V>AExAC
gnomAD
rs75154058893V>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75154058893V>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs179327282094Q>EEnsembl
rs77968042694Q>PExAC
gnomAD
rs37310377095V>IESP
TOPMed
gnomAD
rs377750328100E>VVariant of uncertain significance (Ensembl)ESP
ExAC
rs1444495673101N>YgnomAD
COSV55979077
rs774574693
103E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs753388349104M>IExAC
gnomAD
rs765993385104M>VExAC
TOPMed
gnomAD
rs751598143107N>SExAC
TOPMed
gnomAD
rs1168806019108R>GgnomAD
rs764680630109R>IExAC
gnomAD
rs752696326110R>KExAC
gnomAD
rs758206660111E>QExAC
TOPMed
gnomAD
rs746754566112R>QExAC
TOPMed
gnomAD
COSV55979498
rs777694068
112R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1040086552113S>RTOPMed
gnomAD
rs994193992114G>STOPMed
gnomAD
rs757534743116F>LExAC
TOPMed
gnomAD
rs1193229702117N>STOPMed
gnomAD
rs781593522118F>SExAC
TOPMed
gnomAD
rs746034700119G>VExAC
rs1793285111121Y>CEnsembl
rs113636305122H>REnsembl
rs1793285141122H>YTOPMed
rs770006358123T>IExAC
TOPMed
gnomAD
rs1793285333126E>VTOPMed
rs781074477128S>AExAC
TOPMed
gnomAD
rs1793316355131M>ITOPMed
gnomAD
rs1562920902132D>GEnsembl
rs1562920902132D>VEnsembl
rs756399806133N>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs780237288134L>PExAC
TOPMed
gnomAD
rs748413926135V>MVariant of uncertain significance (Ensembl)Ensembl
rs370654440137E>KESP
ExAC
TOPMed
gnomAD
rs1394011042138H>QTOPMed
gnomAD
rs113906862138H>REnsembl
rs748641894138H>YExAC
gnomAD
rs1326846560139P>LTOPMed
rs1390839293139P>SgnomAD
rs1390839293139P>TgnomAD
rs999880883140G>AEnsembl
rs374786646140G>CVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs374786646140G>RVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs769426962142V>EExAC
TOPMed
gnomAD
rs759255550142V>MExAC
gnomAD
rs139150196143S>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1422350753144K>QTOPMed
gnomAD
rs1033234221145V>AEnsembl
rs762396446146N>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1459291243147I>VTOPMed
gnomAD
rs751462314150S>FExAC
TOPMed
gnomAD
rs76509864152E>*ESP
ExAC
TOPMed
gnomAD
rs76509864152E>KESP
ExAC
TOPMed
gnomAD
rs1166835386154R>GTOPMed
gnomAD
rs202062837154R>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1166835386154R>WTOPMed
gnomAD
rs1203258850155P>ATOPMed
rs1793318938155P>LTOPMed
gnomAD
rs1161006376156M>IgnomAD
rs750229863156M>VExAC
TOPMed
gnomAD
rs1793319059157N>DTOPMed
rs1447106943158V>MTOPMed
gnomAD
rs1793319286159L>HTOPMed
gnomAD
rs754051664160K>MExAC
gnomAD
COSV99744351
rs780109016
160K>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs1228790310162S>CEnsembl
rs1793332947162S>NEnsembl
rs1381315524163S>FgnomAD
rs1381315524163S>YgnomAD
rs1584734080164G>CEnsembl
rs1793333091165R>CEnsembl
rs1305191680165R>HgnomAD
rs1793333091165R>SEnsembl
rs1297699276166M>KgnomAD
rs1401117185166M>LTOPMed
gnomAD
rs1401117185166M>VTOPMed
gnomAD
rs1359911377167Q>*gnomAD
rs758957047167Q>RExAC
gnomAD
rs1311398026169D>NTOPMed
gnomAD
rs1231897530169D>VgnomAD
rs1584734096170D>YEnsembl
rs1488604925171G>EgnomAD
rs1488604925171G>VgnomAD
rs1584734102174N>KEnsembl
rs1793333541175P>TEnsembl
rs1489142020177P>LgnomAD
rs1239882156177P>SgnomAD
rs1424110751181T>KgnomAD
rs80294429182P>HEnsembl
rs1172215535183*>=gnomAD
rs1382518176183*>SgnomAD
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp