Canonical Allele Identifier: CA401995890
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885380G>C , CM000680.2:g.13885380G>C GRCh38
NC_000018.9:g.13885379G>C , CM000680.1:g.13885379G>C GRCh37
NC_000018.8:g.13875379G>C NCBI36
NG_011819.1:g.35157C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.139C>G MANE Select ENSP00000333821.2:p.Leu47Val
ENST00000327606.3:c.139C>G ENSP00000333821.2:p.Leu47Val
ENST00000399821.2:c.139C>G ENSP00000382718.2:p.Leu47Val
NM_000529.2:c.139C>G MANE Select NP_000520.1:p.Leu47Val
NM_001291911.1:c.139C>G NP_001278840.1:p.Leu47Val
XM_017025781.1:c.139C>G XP_016881270.1:p.Leu47Val