Canonical Allele Identifier: CA216967368

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 534202
• ClinVar RCV Id: RCV001426509 ; RCV003424218
• dbSNP Id: rs761885395
• gnomAD v2: 11-819883-G-C
• gnomAD v3: 11-819883-G-C
• gnomAD v4: 11-819883-G-C
• MyVariant Identifiers: chr11:g.819883G>C (hg19) ; chr11:g.819883G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.819883G>C , CM000673.2:g.819883G>C	GRCh38
NC_000011.9:g.819883G>C , CM000673.1:g.819883G>C	GRCh37
NC_000011.8:g.809883G>C	NCBI36
NG_023394.1:g.5983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.165G>C MANE Select	ENSP00000337701.4:p.Ala55=
ENST00000336615.8:c.165G>C	ENSP00000337701.4:p.Ala55=
NM_020376.3:c.165G>C	NP_065109.1:p.Ala55=
XM_006718265.2:c.165G>C	XP_006718328.1:p.Ala55=
XM_006718266.2:c.165G>C	XP_006718329.1:p.Ala55=
XM_006718265.3:c.165G>C	XP_006718328.1:p.Ala55=
XM_006718266.3:c.165G>C	XP_006718329.1:p.Ala55=
XM_017018028.1:c.165G>C	XP_016873517.1:p.Ala55=
XM_024448618.1:c.165G>C	XP_024304386.1:p.Ala55=
NM_020376.4:c.165G>C MANE Select	NP_065109.1:p.Ala55=