Canonical Allele Identifier: CA130659

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 39868
• ClinVar RCV Id: RCV000033095
• dbSNP Id: rs796065307
• MyVariant Identifiers: chr11:g.822004del (hg19) ; chr11:g.822004del (hg38)
• PubMed: PMID:22832386

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822004del , CM000673.2:g.822004del	GRCh38
NC_000011.9:g.822004del , CM000673.1:g.822004del	GRCh37
NC_000011.8:g.812004del	NCBI36
NG_023394.1:g.8104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.467del MANE Select	ENSP00000337701.4:p.Pro156LeufsTer?
ENST00000336615.8:c.467del	ENSP00000337701.4:p.Pro156LeufsTer?
ENST00000525250.5:n.1073del
ENST00000534561.1:n.134del
ENST00000617551.1:c.-784del	ENSP00000481602.1:n.-784del
NM_020376.3:c.467del	NP_065109.1:p.Pro156LeufsTer?
XM_006718265.2:c.467del	XP_006718328.1:p.Pro156LeufsTer?
XM_006718266.2:c.467del	XP_006718329.1:p.Pro156LeufsTer?
XM_006718265.3:c.467del	XP_006718328.1:p.Pro156LeufsTer?
XM_006718266.3:c.467del	XP_006718329.1:p.Pro156LeufsTer?
XM_017018028.1:c.467del	XP_016873517.1:p.Pro156LeufsTer?
XM_024448618.1:c.467del	XP_024304386.1:p.Pro156LeufsTer?
NM_020376.4:c.467del MANE Select	NP_065109.1:p.Pro156LeufsTer?