Canonical Allele Identifier: CA2285919448
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885152C= , CM000680.2:g.13885152C= GRCh38
NC_000018.9:g.13885151C= , CM000680.1:g.13885151C= GRCh37
NC_000018.8:g.13875151C= NCBI36
NG_011819.1:g.35385G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.367G= MANE Select ENSP00000333821.2:p.Val123=
ENST00000327606.3:c.367G= ENSP00000333821.2:p.Val123=
ENST00000399821.2:c.367G= ENSP00000382718.2:p.Val123=
NM_000529.2:c.367G= MANE Select NP_000520.1:p.Val123=
NM_001291911.1:c.367G= NP_001278840.1:p.Val123=
XM_017025781.1:c.367G= XP_016881270.1:p.Val123=