Canonical Allele Identifier: CA5791051

Gene: PNPLA2

Linked Data

• dbSNP Id: rs746884589
• ExAC: 11:822465 C / A
• MyVariant Identifiers: chr11:g.822465C>A (hg19) ; chr11:g.822465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822465C>A , CM000673.2:g.822465C>A	GRCh38
NC_000011.9:g.822465C>A , CM000673.1:g.822465C>A	GRCh37
NC_000011.8:g.812465C>A	NCBI36
NG_023394.1:g.8565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.555C>A MANE Select	ENSP00000337701.4:p.Ser185=
ENST00000336615.8:c.555C>A	ENSP00000337701.4:p.Ser185=
ENST00000525250.5:n.1161C>A
ENST00000531923.1:n.450C>A
ENST00000617551.1:c.-696C>A	ENSP00000481602.1:n.-696C>A
NM_020376.3:c.555C>A	NP_065109.1:p.Ser185=
XM_006718265.2:c.555C>A	XP_006718328.1:p.Ser185=
XM_006718266.2:c.555C>A	XP_006718329.1:p.Ser185=
XM_006718265.3:c.555C>A	XP_006718328.1:p.Ser185=
XM_006718266.3:c.555C>A	XP_006718329.1:p.Ser185=
XM_017018028.1:c.555C>A	XP_016873517.1:p.Ser185=
XM_024448618.1:c.555C>A	XP_024304386.1:p.Ser185=
NM_020376.4:c.555C>A MANE Select	NP_065109.1:p.Ser185=