Canonical Allele Identifier: CA5790997
Gene: PNPLA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 465794
ClinVar RCV Id: RCV000530684 RCV002528403
dbSNP Id: rs758738508
ExAC: 11:821962 A / G
gnomAD v2: 11-821962-A-G
gnomAD v3: 11-821962-A-G
gnomAD v4: 11-821962-A-G
COSMIC: COSM1357333
MyVariant Identifiers: chr11:g.821962A>G (hg19) chr11:g.821962A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.821962A>G , CM000673.2:g.821962A>G GRCh38
NC_000011.9:g.821962A>G , CM000673.1:g.821962A>G GRCh37
NC_000011.8:g.811962A>G NCBI36
NG_023394.1:g.8062A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.425A>G MANE Select ENSP00000337701.4:p.Asn142Ser
ENST00000336615.8:c.425A>G ENSP00000337701.4:p.Asn142Ser
ENST00000525250.5:n.1031A>G
ENST00000534561.1:n.92A>G
ENST00000617551.1:c.-826A>G ENSP00000481602.1:n.-826A>G
NM_020376.3:c.425A>G NP_065109.1:p.Asn142Ser
XM_006718265.2:c.425A>G XP_006718328.1:p.Asn142Ser
XM_006718266.2:c.425A>G XP_006718329.1:p.Asn142Ser
XM_006718265.3:c.425A>G XP_006718328.1:p.Asn142Ser
XM_006718266.3:c.425A>G XP_006718329.1:p.Asn142Ser
XM_017018028.1:c.425A>G XP_016873517.1:p.Asn142Ser
XM_024448618.1:c.425A>G XP_024304386.1:p.Asn142Ser
NM_020376.4:c.425A>G MANE Select NP_065109.1:p.Asn142Ser
Search 100 bp 5'
Search 100 bp 3'