Canonical Allele Identifier: CA401993593
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1220520512

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884652C>G , CM000680.2:g.13884652C>G GRCh38
NC_000018.9:g.13884651C>G , CM000680.1:g.13884651C>G GRCh37
NC_000018.8:g.13874651C>G NCBI36
NG_011819.1:g.35885G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.867G>C MANE Select ENSP00000333821.2:p.Lys289Asn
ENST00000327606.3:c.867G>C ENSP00000333821.2:p.Lys289Asn
NM_000529.2:c.867G>C MANE Select NP_000520.1:p.Lys289Asn
NM_001291911.1:c.867G>C NP_001278840.1:p.Lys289Asn
XM_017025781.1:c.867G>C XP_016881270.1:p.Lys289Asn