Canonical Allele Identifier: CA401995730
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs761331723

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885311C>A , CM000680.2:g.13885311C>A GRCh38
NC_000018.9:g.13885310C>A , CM000680.1:g.13885310C>A GRCh37
NC_000018.8:g.13875310C>A NCBI36
NG_011819.1:g.35226G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.208G>T MANE Select ENSP00000333821.2:p.Asp70Tyr
ENST00000327606.3:c.208G>T ENSP00000333821.2:p.Asp70Tyr
ENST00000399821.2:c.208G>T ENSP00000382718.2:p.Asp70Tyr
NM_000529.2:c.208G>T MANE Select NP_000520.1:p.Asp70Tyr
NM_001291911.1:c.208G>T NP_001278840.1:p.Asp70Tyr
XM_017025781.1:c.208G>T XP_016881270.1:p.Asp70Tyr