Canonical Allele Identifier: CA8902557
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs750272002

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885499G>A , CM000680.2:g.13885499G>A GRCh38
NC_000018.9:g.13885498G>A , CM000680.1:g.13885498G>A GRCh37
NC_000018.8:g.13875498G>A NCBI36
NG_011819.1:g.35038C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.20C>T MANE Select ENSP00000333821.2:p.Ser7Leu
ENST00000327606.3:c.20C>T ENSP00000333821.2:p.Ser7Leu
ENST00000399821.2:c.20C>T ENSP00000382718.2:p.Ser7Leu
NM_000529.2:c.20C>T MANE Select NP_000520.1:p.Ser7Leu
NM_001291911.1:c.20C>T NP_001278840.1:p.Ser7Leu
XM_017025781.1:c.20C>T XP_016881270.1:p.Ser7Leu