Canonical Allele Identifier: CA5791037
Gene: PNPLA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136948
ClinVar RCV Id: RCV003062309
dbSNP Id: rs121908832
ExAC: 11:822407 A / G
gnomAD v2: 11-822407-A-G
gnomAD v4: 11-822407-A-G
MyVariant Identifiers: chr11:g.822407A>G (hg19) chr11:g.822407A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822407A>G , CM000673.2:g.822407A>G GRCh38
NC_000011.9:g.822407A>G , CM000673.1:g.822407A>G GRCh37
NC_000011.8:g.812407A>G NCBI36
NG_023394.1:g.8507A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000336615.9:c.497A>G MANE Select ENSP00000337701.4:p.Asp166Gly
ENST00000336615.8:c.497A>G ENSP00000337701.4:p.Asp166Gly
ENST00000525250.5:n.1103A>G
ENST00000531923.1:n.392A>G
ENST00000617551.1:c.-754A>G ENSP00000481602.1:n.-754A>G
NM_020376.3:c.497A>G NP_065109.1:p.Asp166Gly
XM_006718265.2:c.497A>G XP_006718328.1:p.Asp166Gly
XM_006718266.2:c.497A>G XP_006718329.1:p.Asp166Gly
XM_006718265.3:c.497A>G XP_006718328.1:p.Asp166Gly
XM_006718266.3:c.497A>G XP_006718329.1:p.Asp166Gly
XM_017018028.1:c.497A>G XP_016873517.1:p.Asp166Gly
XM_024448618.1:c.497A>G XP_024304386.1:p.Asp166Gly
NM_020376.4:c.497A>G MANE Select NP_065109.1:p.Asp166Gly
Search 100 bp 5'
Search 100 bp 3'