Canonical Allele Identifier: CA115259
Gene: PNPLA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1874
ClinVar RCV Id: RCV000001951
dbSNP Id: rs121918259
gnomAD v2: 11-822494-C-T
gnomAD v3: 11-822494-C-T
gnomAD v4: 11-822494-C-T
COSMIC: COSM932490

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822494C>T , CM000673.2:g.822494C>T GRCh38
NC_000011.9:g.822494C>T , CM000673.1:g.822494C>T GRCh37
NC_000011.8:g.812494C>T NCBI36
NG_023394.1:g.8594C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.584C>T MANE Select ENSP00000337701.4:p.Pro195Leu
ENST00000336615.8:c.584C>T ENSP00000337701.4:p.Pro195Leu
ENST00000525250.5:n.1190C>T
ENST00000531923.1:n.479C>T
ENST00000617551.1:c.-667C>T ENSP00000481602.1:n.-667C>T
NM_020376.3:c.584C>T NP_065109.1:p.Pro195Leu
XM_006718265.2:c.584C>T XP_006718328.1:p.Pro195Leu
XM_006718266.2:c.584C>T XP_006718329.1:p.Pro195Leu
XM_006718265.3:c.584C>T XP_006718328.1:p.Pro195Leu
XM_006718266.3:c.584C>T XP_006718329.1:p.Pro195Leu
XM_017018028.1:c.584C>T XP_016873517.1:p.Pro195Leu
XM_024448618.1:c.584C>T XP_024304386.1:p.Pro195Leu
NM_020376.4:c.584C>T MANE Select NP_065109.1:p.Pro195Leu