Canonical Allele Identifier: CA401994043
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.761A>C ENSP00000333821.2:p.Tyr254Ser
NM_000529.2:c.761A>C MANE Select NP_000520.1:p.Tyr254Ser
NM_001291911.1:c.761A>C NP_001278840.1:p.Tyr254Ser
XM_017025781.1:c.761A>C XP_016881270.1:p.Tyr254Ser