Canonical Allele Identifier: CA8902391
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 326191
dbSNP Id: rs28926182

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884686A>C , CM000680.2:g.13884686A>C GRCh38
NC_000018.9:g.13884685A>C , CM000680.1:g.13884685A>C GRCh37
NC_000018.8:g.13874685A>C NCBI36
NG_011819.1:g.35851T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.833T>G MANE Select ENSP00000333821.2:p.Phe278Cys
ENST00000327606.3:c.833T>G ENSP00000333821.2:p.Phe278Cys
NM_000529.2:c.833T>G MANE Select NP_000520.1:p.Phe278Cys
NM_001291911.1:c.833T>G NP_001278840.1:p.Phe278Cys
XM_017025781.1:c.833T>G XP_016881270.1:p.Phe278Cys