Canonical Allele Identifier: CA401994045
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884758T>A , CM000680.2:g.13884758T>A GRCh38
NC_000018.9:g.13884757T>A , CM000680.1:g.13884757T>A GRCh37
NC_000018.8:g.13874757T>A NCBI36
NG_011819.1:g.35779A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.761A>T ENSP00000333821.2:p.Tyr254Phe
NM_000529.2:c.761A>T MANE Select NP_000520.1:p.Tyr254Phe
NM_001291911.1:c.761A>T NP_001278840.1:p.Tyr254Phe
XM_017025781.1:c.761A>T XP_016881270.1:p.Tyr254Phe