Canonical Allele Identifier: CA378984525

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824587G>A , CM000673.2:g.824587G>A	GRCh38
NC_000011.9:g.824587G>A , CM000673.1:g.824587G>A	GRCh37
NC_000011.8:g.814587G>A	NCBI36
NG_023394.1:g.10687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020376.4:c.1240G>A MANE Select	NP_065109.1:p.Ala414Thr
ENST00000336615.9:c.1240G>A MANE Select	ENSP00000337701.4:p.Ala414Thr
NM_020376.3:c.1240G>A	NP_065109.1:p.Ala414Thr
ENST00000336615.8:c.1240G>A	ENSP00000337701.4:p.Ala414Thr
ENST00000525250.5:n.2094G>A
ENST00000529255.1:n.670G>A
ENST00000617551.1:c.238G>A	ENSP00000481602.1:p.Ala80Thr
XM_006718265.2:c.1382G>A	XP_006718328.1:p.Arg461His
XM_006718265.3:c.1382G>A	XP_006718328.1:p.Arg461His
XM_006718266.2:c.1382G>A	XP_006718329.1:p.Arg461His
XM_006718266.3:c.1382G>A	XP_006718329.1:p.Arg461His
XM_017018028.1:c.1240G>A	XP_016873517.1:p.Ala414Thr
XM_024448618.1:c.1468G>A	XP_024304386.1:p.Ala490Thr