Canonical Allele Identifier: CA401994088
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884768A>G , CM000680.2:g.13884768A>G GRCh38
NC_000018.9:g.13884767A>G , CM000680.1:g.13884767A>G GRCh37
NC_000018.8:g.13874767A>G NCBI36
NG_011819.1:g.35769T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.751T>C MANE Select ENSP00000333821.2:p.Cys251Arg
ENST00000327606.3:c.751T>C ENSP00000333821.2:p.Cys251Arg
NM_000529.2:c.751T>C MANE Select NP_000520.1:p.Cys251Arg
NM_001291911.1:c.751T>C NP_001278840.1:p.Cys251Arg
XM_017025781.1:c.751T>C XP_016881270.1:p.Cys251Arg