Canonical Allele Identifier: CA401995883
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885376G>T , CM000680.2:g.13885376G>T GRCh38
NC_000018.9:g.13885375G>T , CM000680.1:g.13885375G>T GRCh37
NC_000018.8:g.13875375G>T NCBI36
NG_011819.1:g.35161C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.143C>A MANE Select ENSP00000333821.2:p.Ala48Asp
ENST00000327606.3:c.143C>A ENSP00000333821.2:p.Ala48Asp
ENST00000399821.2:c.143C>A ENSP00000382718.2:p.Ala48Asp
NM_000529.2:c.143C>A MANE Select NP_000520.1:p.Ala48Asp
NM_001291911.1:c.143C>A NP_001278840.1:p.Ala48Asp
XM_017025781.1:c.143C>A XP_016881270.1:p.Ala48Asp