Canonical Allele Identifier: CA2285919371
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884996C= , CM000680.2:g.13884996C= GRCh38
NC_000018.9:g.13884995C= , CM000680.1:g.13884995C= GRCh37
NC_000018.8:g.13874995C= NCBI36
NG_011819.1:g.35541G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.523G= MANE Select ENSP00000333821.2:p.Val175=
ENST00000327606.3:c.523G= ENSP00000333821.2:p.Val175=
NM_000529.2:c.523G= MANE Select NP_000520.1:p.Val175=
NM_001291911.1:c.523G= NP_001278840.1:p.Val175=
XM_017025781.1:c.523G= XP_016881270.1:p.Val175=