Canonical Allele Identifier: CA401994048
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884759A>C , CM000680.2:g.13884759A>C GRCh38
NC_000018.9:g.13884758A>C , CM000680.1:g.13884758A>C GRCh37
NC_000018.8:g.13874758A>C NCBI36
NG_011819.1:g.35778T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.760T>G MANE Select ENSP00000333821.2:p.Tyr254Asp
ENST00000327606.3:c.760T>G ENSP00000333821.2:p.Tyr254Asp
NM_000529.2:c.760T>G MANE Select NP_000520.1:p.Tyr254Asp
NM_001291911.1:c.760T>G NP_001278840.1:p.Tyr254Asp
XM_017025781.1:c.760T>G XP_016881270.1:p.Tyr254Asp