Canonical Allele Identifier: CA116122
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 3264
ClinVar RCV Id: RCV000003420
dbSNP Id: rs104894662

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884767C>A , CM000680.2:g.13884767C>A GRCh38
NC_000018.9:g.13884766C>A , CM000680.1:g.13884766C>A GRCh37
NC_000018.8:g.13874766C>A NCBI36
NG_011819.1:g.35770G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.752G>T ENSP00000333821.2:p.Cys251Phe
NM_000529.2:c.752G>T MANE Select NP_000520.1:p.Cys251Phe
NM_001291911.1:c.752G>T NP_001278840.1:p.Cys251Phe
XM_017025781.1:c.752G>T XP_016881270.1:p.Cys251Phe