Canonical Allele Identifier: CA5791029

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 306296
• ClinVar RCV Id: RCV000306235 ; RCV003920265
• dbSNP Id: rs372342635
• ExAC: 11:822390 G / C
• gnomAD v2: 11-822390-G-C
• gnomAD v3: 11-822390-G-C
• gnomAD v4: 11-822390-G-C
• MyVariant Identifiers: chr11:g.822390G>C (hg19) ; chr11:g.822390G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822390G>C , CM000673.2:g.822390G>C	GRCh38
NC_000011.9:g.822390G>C , CM000673.1:g.822390G>C	GRCh37
NC_000011.8:g.812390G>C	NCBI36
NG_023394.1:g.8490G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.487-7G>C MANE Select	ENSP00000337701.4:n.487-7G>C
ENST00000336615.8:c.487-7G>C	ENSP00000337701.4:n.487-7G>C
ENST00000525250.5:n.1093-7G>C
ENST00000531923.1:n.375G>C
ENST00000617551.1:c.-764-7G>C	ENSP00000481602.1:n.-764-7G>C
NM_020376.3:c.487-7G>C	NP_065109.1:n.487-7G>C
XM_006718265.2:c.487-7G>C	XP_006718328.1:n.487-7G>C
XM_006718266.2:c.487-7G>C	XP_006718329.1:n.487-7G>C
XM_006718265.3:c.487-7G>C	XP_006718328.1:n.487-7G>C
XM_006718266.3:c.487-7G>C	XP_006718329.1:n.487-7G>C
XM_017018028.1:c.487-7G>C	XP_016873517.1:n.487-7G>C
XM_024448618.1:c.487-7G>C	XP_024304386.1:n.487-7G>C
NM_020376.4:c.487-7G>C MANE Select	NP_065109.1:n.487-7G>C