Canonical Allele Identifier: CA2285919306
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884866G= , CM000680.2:g.13884866G= GRCh38
NC_000018.9:g.13884865G= , CM000680.1:g.13884865G= GRCh37
NC_000018.8:g.13874865G= NCBI36
NG_011819.1:g.35671C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.653C= MANE Select ENSP00000333821.2:p.Ala218=
ENST00000327606.3:c.653C= ENSP00000333821.2:p.Ala218=
NM_000529.2:c.653C= MANE Select NP_000520.1:p.Ala218=
NM_001291911.1:c.653C= NP_001278840.1:p.Ala218=
XM_017025781.1:c.653C= XP_016881270.1:p.Ala218=