Canonical Allele Identifier: CA296828608
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 723358
ClinVar RCV Id: RCV000897107
dbSNP Id: rs766565660
COSMIC: COSM986774

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884766G>A , CM000680.2:g.13884766G>A GRCh38
NC_000018.9:g.13884765G>A , CM000680.1:g.13884765G>A GRCh37
NC_000018.8:g.13874765G>A NCBI36
NG_011819.1:g.35771C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.753C>T ENSP00000333821.2:p.Cys251=
NM_000529.2:c.753C>T MANE Select NP_000520.1:p.Cys251=
NM_001291911.1:c.753C>T NP_001278840.1:p.Cys251=
XM_017025781.1:c.753C>T XP_016881270.1:p.Cys251=