Canonical Allele Identifier: CA401994055
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884760G>T , CM000680.2:g.13884760G>T GRCh38
NC_000018.9:g.13884759G>T , CM000680.1:g.13884759G>T GRCh37
NC_000018.8:g.13874759G>T NCBI36
NG_011819.1:g.35777C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.759C>A ENSP00000333821.2:p.Cys253Ter
NM_000529.2:c.759C>A MANE Select NP_000520.1:p.Cys253Ter
NM_001291911.1:c.759C>A NP_001278840.1:p.Cys253Ter
XM_017025781.1:c.759C>A XP_016881270.1:p.Cys253Ter