Canonical Allele Identifier: CA2285919370
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884995A= , CM000680.2:g.13884995A= GRCh38
NC_000018.9:g.13884994A= , CM000680.1:g.13884994A= GRCh37
NC_000018.8:g.13874994A= NCBI36
NG_011819.1:g.35542T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.524T= MANE Select ENSP00000333821.2:p.Val175=
ENST00000327606.3:c.524T= ENSP00000333821.2:p.Val175=
NM_000529.2:c.524T= MANE Select NP_000520.1:p.Val175=
NM_001291911.1:c.524T= NP_001278840.1:p.Val175=
XM_017025781.1:c.524T= XP_016881270.1:p.Val175=