Canonical Allele Identifier: CA2573147089

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 1454689
• ClinVar RCV Id: RCV001941995
• dbSNP Id: rs2133847468
• gnomAD v4: 11-821974-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821977del , CM000673.2:g.821977del	GRCh38
NC_000011.9:g.821977del , CM000673.1:g.821977del	GRCh37
NC_000011.8:g.811977del	NCBI36
NG_023394.1:g.8077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.440del MANE Select	ENSP00000337701.4:p.Phe147SerfsTer?
ENST00000336615.8:c.440del	ENSP00000337701.4:p.Phe147SerfsTer?
ENST00000525250.5:n.1046del
ENST00000534561.1:n.107del
ENST00000617551.1:c.-811del	ENSP00000481602.1:n.-811del
NM_020376.3:c.440del	NP_065109.1:p.Phe147SerfsTer?
XM_006718265.2:c.440del	XP_006718328.1:p.Phe147SerfsTer?
XM_006718266.2:c.440del	XP_006718329.1:p.Phe147SerfsTer?
XM_006718265.3:c.440del	XP_006718328.1:p.Phe147SerfsTer?
XM_006718266.3:c.440del	XP_006718329.1:p.Phe147SerfsTer?
XM_017018028.1:c.440del	XP_016873517.1:p.Phe147SerfsTer?
XM_024448618.1:c.440del	XP_024304386.1:p.Phe147SerfsTer?
NM_020376.4:c.440del MANE Select	NP_065109.1:p.Phe147SerfsTer?