Canonical Allele Identifier: CA5791331

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 306306
• ClinVar RCV Id: RCV000382845 ; RCV002520774
• dbSNP Id: rs373114735
• ExAC: 11:824528 C / A
• gnomAD v2: 11-824528-C-A
• gnomAD v3: 11-824528-C-A
• gnomAD v4: 11-824528-C-A
• MyVariant Identifiers: chr11:g.824528C>A (hg19) ; chr11:g.824528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.824528C>A , CM000673.2:g.824528C>A	GRCh38
NC_000011.9:g.824528C>A , CM000673.1:g.824528C>A	GRCh37
NC_000011.8:g.814528C>A	NCBI36
NG_023394.1:g.10628C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.1181C>A MANE Select	ENSP00000337701.4:p.Pro394Gln
ENST00000336615.8:c.1181C>A	ENSP00000337701.4:p.Pro394Gln
ENST00000525250.5:n.2035C>A
ENST00000529255.1:n.611C>A
ENST00000617551.1:c.179C>A	ENSP00000481602.1:p.Pro60Gln
NM_020376.3:c.1181C>A	NP_065109.1:p.Pro394Gln
XM_006718265.2:c.1323C>A	XP_006718328.1:p.Ala441=
XM_006718266.2:c.1323C>A	XP_006718329.1:p.Ala441=
XM_006718265.3:c.1323C>A	XP_006718328.1:p.Ala441=
XM_006718266.3:c.1323C>A	XP_006718329.1:p.Ala441=
XM_017018028.1:c.1181C>A	XP_016873517.1:p.Pro394Gln
XM_024448618.1:c.1409C>A	XP_024304386.1:p.Pro470Gln
NM_020376.4:c.1181C>A MANE Select	NP_065109.1:p.Pro394Gln