Canonical Allele Identifier: CA401994058
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884761C>A , CM000680.2:g.13884761C>A GRCh38
NC_000018.9:g.13884760C>A , CM000680.1:g.13884760C>A GRCh37
NC_000018.8:g.13874760C>A NCBI36
NG_011819.1:g.35776G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.758G>T ENSP00000333821.2:p.Cys253Phe
NM_000529.2:c.758G>T MANE Select NP_000520.1:p.Cys253Phe
NM_001291911.1:c.758G>T NP_001278840.1:p.Cys253Phe
XM_017025781.1:c.758G>T XP_016881270.1:p.Cys253Phe