Canonical Allele Identifier: CA401994104
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884771A>G , CM000680.2:g.13884771A>G GRCh38
NC_000018.9:g.13884770A>G , CM000680.1:g.13884770A>G GRCh37
NC_000018.8:g.13874770A>G NCBI36
NG_011819.1:g.35766T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.748T>C MANE Select ENSP00000333821.2:p.Tyr250His
ENST00000327606.3:c.748T>C ENSP00000333821.2:p.Tyr250His
NM_000529.2:c.748T>C MANE Select NP_000520.1:p.Tyr250His
NM_001291911.1:c.748T>C NP_001278840.1:p.Tyr250His
XM_017025781.1:c.748T>C XP_016881270.1:p.Tyr250His