Canonical Allele Identifier: CA2285919198
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884647A= , CM000680.2:g.13884647A= GRCh38
NC_000018.9:g.13884646A= , CM000680.1:g.13884646A= GRCh37
NC_000018.8:g.13874646A= NCBI36
NG_011819.1:g.35890T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.872T= MANE Select ENSP00000333821.2:p.Ile291=
ENST00000327606.3:c.872T= ENSP00000333821.2:p.Ile291=
NM_000529.2:c.872T= MANE Select NP_000520.1:p.Ile291=
NM_001291911.1:c.872T= NP_001278840.1:p.Ile291=
XM_017025781.1:c.872T= XP_016881270.1:p.Ile291=