Canonical Allele Identifier: CA597022462

Gene: PNPLA2

Linked Data

• gnomAD v2: 11-821893-T-TGG
• gnomAD v4: 11-821893-T-TGG
• MyVariant Identifiers: chr11:g.821894_821895insGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821900_821901dup , CM000673.2:g.821900_821901dup	GRCh38
NC_000011.9:g.821900_821901dup , CM000673.1:g.821900_821901dup	GRCh37
NC_000011.8:g.811900_811901dup	NCBI36
NG_023394.1:g.8000_8001dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.420+40_420+41dup MANE Select	ENSP00000337701.4:n.420+40_420+41dup
ENST00000336615.8:c.420+40_420+41dup	ENSP00000337701.4:n.420+40_420+41dup
ENST00000525250.5:n.1026+40_1026+41dup
ENST00000534561.1:n.87+40_87+41dup
ENST00000617551.1:c.-831+40_-831+41dup	ENSP00000481602.1:n.-831+40_-831+41dup
NM_020376.3:c.420+40_420+41dup	NP_065109.1:n.420+40_420+41dup
XM_006718265.2:c.420+40_420+41dup	XP_006718328.1:n.420+40_420+41dup
XM_006718266.2:c.420+40_420+41dup	XP_006718329.1:n.420+40_420+41dup
XM_006718265.3:c.420+40_420+41dup	XP_006718328.1:n.420+40_420+41dup
XM_006718266.3:c.420+40_420+41dup	XP_006718329.1:n.420+40_420+41dup
XM_017018028.1:c.420+40_420+41dup	XP_016873517.1:n.420+40_420+41dup
XM_024448618.1:c.420+40_420+41dup	XP_024304386.1:n.420+40_420+41dup
NM_020376.4:c.420+40_420+41dup MANE Select	NP_065109.1:n.420+40_420+41dup