Canonical Allele Identifier: CA5790927
Gene: PNPLA2 HGNC NCBI
COSMIC:
COSM932486 (not active)
MyVariant.info:
GRCh38 chr11:g.821676G>A
GRCh37 chr11:g.821676G>A
Revel Score:
ENST00000336615 (MANE Select) 0.542
gnomAD v2:
11:821676 G / A
gnomAD v3:
11:821676 G / A
gnomAD v4:
chr11-821676-G-A
Joint Max Group AF 0.000665 (NFE)
Genomes Max Group AF 0.0006116 (NFE)
Exomes Max Group AF 0.00065948 (NFE)
ClinVar Allele:
461474
ClinVar RCV:
RCV000528874
ClinVar Variation:
465789
dbSNP:
139576982
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.821676G>A , CM000673.2:g.821676G>A GRCh38
NC_000011.9:g.821676G>A , CM000673.1:g.821676G>A GRCh37
NC_000011.8:g.811676G>A NCBI36
NG_023394.1:g.7776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.236G>A MANE Select ENSP00000337701.4:p.Arg79Gln
ENST00000336615.8:c.236G>A ENSP00000337701.4:p.Arg79Gln
ENST00000525250.5:n.842G>A
ENST00000617551.1:c.-1015G>A ENSP00000481602.1:n.-1015G>A
NM_020376.3:c.236G>A NP_065109.1:p.Arg79Gln
XM_006718265.2:c.236G>A XP_006718328.1:p.Arg79Gln
XM_006718266.2:c.236G>A XP_006718329.1:p.Arg79Gln
XM_006718265.3:c.236G>A XP_006718328.1:p.Arg79Gln
XM_006718266.3:c.236G>A XP_006718329.1:p.Arg79Gln
XM_017018028.1:c.236G>A XP_016873517.1:p.Arg79Gln
XM_024448618.1:c.236G>A XP_024304386.1:p.Arg79Gln
NM_020376.4:c.236G>A MANE Select NP_065109.1:p.Arg79Gln
Search 100 bp 5'
Search 100 bp 3'