Canonical Allele Identifier: CA401995089
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1238267279

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885001G>A , CM000680.2:g.13885001G>A GRCh38
NC_000018.9:g.13885000G>A , CM000680.1:g.13885000G>A GRCh37
NC_000018.8:g.13875000G>A NCBI36
NG_011819.1:g.35536C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.518C>T MANE Select ENSP00000333821.2:p.Pro173Leu
ENST00000327606.3:c.518C>T ENSP00000333821.2:p.Pro173Leu
NM_000529.2:c.518C>T MANE Select NP_000520.1:p.Pro173Leu
NM_001291911.1:c.518C>T NP_001278840.1:p.Pro173Leu
XM_017025781.1:c.518C>T XP_016881270.1:p.Pro173Leu