Canonical Allele Identifier: CA378983943

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824363G>C , CM000673.2:g.824363G>C	GRCh38
NC_000011.9:g.824363G>C , CM000673.1:g.824363G>C	GRCh37
NC_000011.8:g.814363G>C	NCBI36
NG_023394.1:g.10463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.1102G>C MANE Select	ENSP00000337701.4:p.Glu368Gln
ENST00000336615.8:c.1102G>C	ENSP00000337701.4:p.Glu368Gln
ENST00000525250.5:n.1956G>C
ENST00000526083.1:n.391G>C
ENST00000529255.1:n.532G>C
ENST00000617551.1:c.100G>C	ENSP00000481602.1:p.Glu34Gln
NM_020376.3:c.1102G>C	NP_065109.1:p.Glu368Gln
XM_006718265.2:c.1244G>C	XP_006718328.1:p.Gly415Ala
XM_006718266.2:c.1244G>C	XP_006718329.1:p.Gly415Ala
XM_006718265.3:c.1244G>C	XP_006718328.1:p.Gly415Ala
XM_006718266.3:c.1244G>C	XP_006718329.1:p.Gly415Ala
XM_017018028.1:c.1102G>C	XP_016873517.1:p.Glu368Gln
XM_024448618.1:c.1244G>C	XP_024304386.1:p.Gly415Ala
NM_020376.4:c.1102G>C MANE Select	NP_065109.1:p.Glu368Gln