Canonical Allele Identifier: CA2285919276
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884804C= , CM000680.2:g.13884804C= GRCh38
NC_000018.9:g.13884803C= , CM000680.1:g.13884803C= GRCh37
NC_000018.8:g.13874803C= NCBI36
NG_011819.1:g.35733G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.715G= MANE Select ENSP00000333821.2:p.Val239=
ENST00000327606.3:c.715G= ENSP00000333821.2:p.Val239=
NM_000529.2:c.715G= MANE Select NP_000520.1:p.Val239=
NM_001291911.1:c.715G= NP_001278840.1:p.Val239=
XM_017025781.1:c.715G= XP_016881270.1:p.Val239=