Canonical Allele Identifier: CA401994082
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884766G>T , CM000680.2:g.13884766G>T GRCh38
NC_000018.9:g.13884765G>T , CM000680.1:g.13884765G>T GRCh37
NC_000018.8:g.13874765G>T NCBI36
NG_011819.1:g.35771C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.753C>A MANE Select ENSP00000333821.2:p.Cys251Ter
ENST00000327606.3:c.753C>A ENSP00000333821.2:p.Cys251Ter
NM_000529.2:c.753C>A MANE Select NP_000520.1:p.Cys251Ter
NM_001291911.1:c.753C>A NP_001278840.1:p.Cys251Ter
XM_017025781.1:c.753C>A XP_016881270.1:p.Cys251Ter