Q9NRP2 · COXM2_HUMAN

  • Protein
    COX assembly mitochondrial protein 2 homolog
  • Gene
    CMC2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

17910203040506070
MHPDLSPHLHTEECNVLINLLKECHKNHNILKFFGYCNDVDRELRKCLKNEYVENRTKSREHGIAMRKKLFNPPEESEK
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV1080534071M>?cosmic curated
rs7573556212H>YExAC
gnomAD
rs19685133333P>LTOPMed
COSV54728958
rs187504367
3P>Scosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs19685127414D>ETOPMed
rs7764529534D>GExAC
gnomAD
rs7593249054D>HExAC
gnomAD
rs7593249054D>NExAC
gnomAD
rs13971866735L>ITOPMed
gnomAD
rs7725524776S>CExAC
gnomAD
rs7725524776S>FExAC
gnomAD
rs7606888126S>PExAC
gnomAD
rs7606888126S>TExAC
gnomAD
rs10103507588H>DTOPMed
gnomAD
COSV1080534148H>Lcosmic curated
rs20052552010H>DExAC
TOPMed
gnomAD
rs196851097310H>PEnsembl
COSV5472980310H>Rcosmic curated
rs77413564711T>AExAC
gnomAD
COSV99548142
rs2303217
11T>Icosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_033816
rs2303217
11T>SUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs77413564711T>SExAC
gnomAD
rs75652954913E>KExAC
TOPMed
gnomAD
rs74639145614C>RExAC
TOPMed
gnomAD
rs20096149115N>I1000Genomes
TOPMed
gnomAD
rs20096149115N>S1000Genomes
TOPMed
gnomAD
rs20096149115N>T1000Genomes
TOPMed
gnomAD
rs75734593116V>IExAC
TOPMed
gnomAD
rs215164596717L>FEnsembl
rs145578635318I>VTOPMed
gnomAD
rs196850801919N>KTOPMed
COSV10635910420L>*cosmic curated
rs143727726520L>FgnomAD
rs75170301221L>F1000Genomes
ExAC
gnomAD
rs75170301221L>I1000Genomes
ExAC
gnomAD
rs125905458522K>EgnomAD
rs215164592723E>*Ensembl
rs215164591024C>*Ensembl
COSV104375583
rs764267842
24C>Rcosmic curated
ExAC
TOPMed
gnomAD
rs76426784224C>SExAC
TOPMed
gnomAD
rs96344194924C>YEnsembl
rs75866507625H>DExAC
gnomAD
rs75866507625H>NExAC
gnomAD
rs215164589925H>QEnsembl
rs123045409826K>NTOPMed
gnomAD
TCGA novel26K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1330160047
TCGA novel
27N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
gnomAD
NCI-TCGA
rs196714129428H>QTOPMed
gnomAD
rs156751006428H>YEnsembl
rs119965414832K>NTOPMed
COSV104375586
rs1050470894
33F>Ccosmic curated
Ensembl
rs76111749733F>LExAC
rs77369982034F>SExAC
TOPMed
gnomAD
rs55750995435G>D1000Genomes
ExAC
gnomAD
rs37135993236Y>*ESP
ExAC
TOPMed
gnomAD
TCGA novel36Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs76887562038N>DExAC
gnomAD
rs136480438440V>IgnomAD
COSV54728712
rs781067998
42R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs76695690342R>WExAC
TOPMed
gnomAD
rs196713607643E>KEnsembl
COSV5473050644L>Fcosmic curated
COSV54730648
rs184621299
45R>Kcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs18462129945R>T1000Genomes
ExAC
TOPMed
gnomAD
COSV9954811447C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs196713477847C>RTOPMed
rs196713412547C>WEnsembl
rs55561187847C>Y1000Genomes
ExAC
gnomAD
rs75219973548L>VExAC
gnomAD
rs196713323349K>EgnomAD
rs147726801449K>NEnsembl
rs122399374149K>RgnomAD
rs117718412451E>VEnsembl
rs75890523052Y>*ExAC
TOPMed
gnomAD
rs137916770252Y>FgnomAD
COSV107267288
rs1127390
53V>Icosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112739053V>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs20094164654E>G1000Genomes
ExAC
TOPMed
gnomAD
rs123602638154E>KgnomAD
rs140972336
COSV54730711
55N>KLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
cosmic curated
rs75968108355N>SExAC
gnomAD
rs119924668156R>MgnomAD
rs86815878258K>RTOPMed
gnomAD
rs125697349959S>IgnomAD
COSV9954826460R>Scosmic curated
rs191230800261E>DTOPMed
rs20001217362H>Q1000Genomes
ExAC
gnomAD
rs137491052262H>RgnomAD
rs138540407762H>YTOPMed
gnomAD
TCGA novel63G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs36981289064I>FESP
TOPMed
gnomAD
rs191230505664I>TEnsembl
rs191230461365A>STOPMed
rs866043362
COSV99548233
66M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
NCI-TCGA Cosmic
cosmic curated
rs191230313666M>TEnsembl
rs98643093766M>VTOPMed
gnomAD
COSV54729932
rs762821797
67R>*cosmic curated
ExAC
gnomAD
rs77539395667R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
COSV54729762
COSV99548360
rs541435706
68K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs141892505068K>QgnomAD
rs191229955369K>ETOPMed
rs191229909469K>NEnsembl
TCGA novel70L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs20131026670L>V1000Genomes
rs191229822671F>CEnsembl
rs76979128471F>LExAC
gnomAD
rs118019936072N>SgnomAD
rs77622662373P>LExAC
TOPMed
gnomAD
COSV99548140
rs745359055
73P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs118598333974P>LgnomAD
rs191229444675E>GEnsembl
rs74667765775E>KExAC
TOPMed
gnomAD
rs74667765775E>QExAC
TOPMed
gnomAD
rs56354291776E>*1000Genomes
ExAC
TOPMed
gnomAD
rs91035146976E>DTOPMed
rs56354291776E>K1000Genomes
ExAC
TOPMed
gnomAD
rs14065692377S>CESP
ExAC
TOPMed
gnomAD
COSV54729017
rs376325635
78E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs122455657679K>EgnomAD
rs75381417080*>QExAC
gnomAD
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