Canonical Allele Identifier: CA8902556
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 890041
ClinVar RCV Id: RCV001124317
dbSNP Id: rs371151390

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885498C>T , CM000680.2:g.13885498C>T GRCh38
NC_000018.9:g.13885497C>T , CM000680.1:g.13885497C>T GRCh37
NC_000018.8:g.13875497C>T NCBI36
NG_011819.1:g.35039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.21G>A MANE Select ENSP00000333821.2:p.Ser7=
ENST00000327606.3:c.21G>A ENSP00000333821.2:p.Ser7=
ENST00000399821.2:c.21G>A ENSP00000382718.2:p.Ser7=
NM_000529.2:c.21G>A MANE Select NP_000520.1:p.Ser7=
NM_001291911.1:c.21G>A NP_001278840.1:p.Ser7=
XM_017025781.1:c.21G>A XP_016881270.1:p.Ser7=