Canonical Allele Identifier: CA1947315161

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822319C= , CM000673.2:g.822319C=	GRCh38
NC_000011.9:g.822319C= , CM000673.1:g.822319C=	GRCh37
NC_000011.8:g.812319C=	NCBI36
NG_023394.1:g.8419C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.487-78C= MANE Select	ENSP00000337701.4:n.487-78C=
ENST00000336615.8:c.487-78C=	ENSP00000337701.4:n.487-78C=
ENST00000525250.5:n.1093-78C=
ENST00000531923.1:n.304C=
ENST00000617551.1:c.-764-78C=	ENSP00000481602.1:n.-764-78C=
NM_020376.3:c.487-78C=	NP_065109.1:n.487-78C=
XM_006718265.2:c.487-78C=	XP_006718328.1:n.487-78C=
XM_006718266.2:c.487-78C=	XP_006718329.1:n.487-78C=
XM_006718265.3:c.487-78C=	XP_006718328.1:n.487-78C=
XM_006718266.3:c.487-78C=	XP_006718329.1:n.487-78C=
XM_017018028.1:c.487-78C=	XP_016873517.1:n.487-78C=
XM_024448618.1:c.487-78C=	XP_024304386.1:n.487-78C=
NM_020376.4:c.487-78C= MANE Select	NP_065109.1:n.487-78C=