Canonical Allele Identifier: CA378980532

Gene: PNPLA2

Linked Data

• MyVariant Identifiers: chr11:g.822575T>A (hg19) ; chr11:g.822575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822575T>A , CM000673.2:g.822575T>A	GRCh38
NC_000011.9:g.822575T>A , CM000673.1:g.822575T>A	GRCh37
NC_000011.8:g.812575T>A	NCBI36
NG_023394.1:g.8675T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.665T>A MANE Select	ENSP00000337701.4:p.Leu222His
ENST00000336615.8:c.665T>A	ENSP00000337701.4:p.Leu222His
ENST00000525250.5:n.1271T>A
ENST00000531923.1:n.560T>A
ENST00000617551.1:c.-586T>A	ENSP00000481602.1:n.-586T>A
NM_020376.3:c.665T>A	NP_065109.1:p.Leu222His
XM_006718265.2:c.665T>A	XP_006718328.1:p.Leu222His
XM_006718266.2:c.665T>A	XP_006718329.1:p.Leu222His
XM_006718265.3:c.665T>A	XP_006718328.1:p.Leu222His
XM_006718266.3:c.665T>A	XP_006718329.1:p.Leu222His
XM_017018028.1:c.665T>A	XP_016873517.1:p.Leu222His
XM_024448618.1:c.665T>A	XP_024304386.1:p.Leu222His
NM_020376.4:c.665T>A MANE Select	NP_065109.1:p.Leu222His