Canonical Allele Identifier: CA144792

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 65421
• ClinVar RCV Id: RCV000055643
• dbSNP Id: rs796065310
• gnomAD v2: 11-822000-A-ATCCC
• gnomAD v3: 11-822000-A-ATCCC
• gnomAD v4: 11-822000-A-ATCCC
• MyVariant Identifiers: chr11:g.822012_822015dupCTCC (hg19) ; chr11:g.822004_822005insTCCC (hg19) ; chr11:g.822012_822015dupCTCC (hg38)
• PubMed: PMID:17657808

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822012_822015dup , CM000673.2:g.822012_822015dup	GRCh38
NC_000011.9:g.822012_822015dup , CM000673.1:g.822012_822015dup	GRCh37
NC_000011.8:g.812012_812015dup	NCBI36
NG_023394.1:g.8112_8115dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.475_478dup MANE Select	ENSP00000337701.4:p.Gln160ProfsTer19
ENST00000336615.8:c.475_478dup	ENSP00000337701.4:p.Gln160ProfsTer19
ENST00000525250.5:n.1081_1084dup
ENST00000534561.1:n.142_145dup
ENST00000617551.1:c.-776_-773dup	ENSP00000481602.1:n.-776_-773dup
NM_020376.3:c.475_478dup	NP_065109.1:p.Gln160ProfsTer19
XM_006718265.2:c.475_478dup	XP_006718328.1:p.Gln160ProfsTer19
XM_006718266.2:c.475_478dup	XP_006718329.1:p.Gln160ProfsTer19
XM_006718265.3:c.475_478dup	XP_006718328.1:p.Gln160ProfsTer19
XM_006718266.3:c.475_478dup	XP_006718329.1:p.Gln160ProfsTer19
XM_017018028.1:c.475_478dup	XP_016873517.1:p.Gln160ProfsTer19
XM_024448618.1:c.475_478dup	XP_024304386.1:p.Gln160ProfsTer19
NM_020376.4:c.475_478dup MANE Select	NP_065109.1:p.Gln160ProfsTer19