Canonical Allele Identifier: CA5791348

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824584G>A , CM000673.2:g.824584G>A	GRCh38
NC_000011.9:g.824584G>A , CM000673.1:g.824584G>A	GRCh37
NC_000011.8:g.814584G>A	NCBI36
NG_023394.1:g.10684G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020376.4:c.1237G>A MANE Select	NP_065109.1:p.Ala413Thr
ENST00000336615.9:c.1237G>A MANE Select	ENSP00000337701.4:p.Ala413Thr
NM_020376.3:c.1237G>A	NP_065109.1:p.Ala413Thr
ENST00000336615.8:c.1237G>A	ENSP00000337701.4:p.Ala413Thr
ENST00000525250.5:n.2091G>A
ENST00000529255.1:n.667G>A
ENST00000617551.1:c.235G>A	ENSP00000481602.1:p.Ala79Thr
XM_006718265.2:c.1379G>A	XP_006718328.1:p.Arg460His
XM_006718265.3:c.1379G>A	XP_006718328.1:p.Arg460His
XM_006718266.2:c.1379G>A	XP_006718329.1:p.Arg460His
XM_006718266.3:c.1379G>A	XP_006718329.1:p.Arg460His
XM_017018028.1:c.1237G>A	XP_016873517.1:p.Ala413Thr
XM_024448618.1:c.1465G>A	XP_024304386.1:p.Ala489Thr