Canonical Allele Identifier: CA680817889

Gene: PNPLA2

Linked Data

• dbSNP Id: rs1296734300
• gnomAD v3: 11-822322-G-GTGGGGTGGC
• gnomAD v4: 11-822322-G-GTGGGGTGGC
• MyVariant Identifiers: chr11:g.822322_822323insTGGGGTGGC (hg19) ; chr11:g.822322_822323insTGGGGTGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822331_822339dup , CM000673.2:g.822331_822339dup	GRCh38
NC_000011.9:g.822331_822339dup , CM000673.1:g.822331_822339dup	GRCh37
NC_000011.8:g.812331_812339dup	NCBI36
NG_023394.1:g.8431_8439dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.487-66_487-58dup MANE Select	ENSP00000337701.4:n.487-66_487-58dup
ENST00000336615.8:c.487-66_487-58dup	ENSP00000337701.4:n.487-66_487-58dup
ENST00000525250.5:n.1093-66_1093-58dup
ENST00000531923.1:n.316_324dup
ENST00000617551.1:c.-764-66_-764-58dup	ENSP00000481602.1:n.-764-66_-764-58dup
NM_020376.3:c.487-66_487-58dup	NP_065109.1:n.487-66_487-58dup
XM_006718265.2:c.487-66_487-58dup	XP_006718328.1:n.487-66_487-58dup
XM_006718266.2:c.487-66_487-58dup	XP_006718329.1:n.487-66_487-58dup
XM_006718265.3:c.487-66_487-58dup	XP_006718328.1:n.487-66_487-58dup
XM_006718266.3:c.487-66_487-58dup	XP_006718329.1:n.487-66_487-58dup
XM_017018028.1:c.487-66_487-58dup	XP_016873517.1:n.487-66_487-58dup
XM_024448618.1:c.487-66_487-58dup	XP_024304386.1:n.487-66_487-58dup
NM_020376.4:c.487-66_487-58dup MANE Select	NP_065109.1:n.487-66_487-58dup