Canonical Allele Identifier: CA5791415

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824793C>G , CM000673.2:g.824793C>G	GRCh38
NC_000011.9:g.824793C>G , CM000673.1:g.824793C>G	GRCh37
NC_000011.8:g.814793C>G	NCBI36
NG_023394.1:g.10893C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020376.4:c.1446C>G MANE Select	NP_065109.1:p.Ala482=
ENST00000336615.9:c.1446C>G MANE Select	ENSP00000337701.4:p.Ala482=
NM_020376.3:c.1446C>G	NP_065109.1:p.Ala482=
ENST00000336615.8:c.1446C>G	ENSP00000337701.4:p.Ala482=
ENST00000525250.5:n.2300C>G
ENST00000529255.1:n.876C>G
ENST00000617551.1:c.444C>G	ENSP00000481602.1:p.Ala148=
XM_006718265.2:c.1588C>G	XP_006718328.1:p.Arg530Gly
XM_006718265.3:c.1588C>G	XP_006718328.1:p.Arg530Gly
XM_006718266.2:c.1588C>G	XP_006718329.1:p.Arg530Gly
XM_006718266.3:c.1588C>G	XP_006718329.1:p.Arg530Gly
XM_017018028.1:c.1446C>G	XP_016873517.1:p.Ala482=
XM_024448618.1:c.1674C>G	XP_024304386.1:p.Ala558=