Canonical Allele Identifier: CA1947314836

Gene: PNPLA2

Linked Data

• dbSNP Id: rs1734499357

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821939_821947dup , CM000673.2:g.821939_821947dup	GRCh38
NC_000011.9:g.821939_821947dup , CM000673.1:g.821939_821947dup	GRCh37
NC_000011.8:g.811939_811947dup	NCBI36
NG_023394.1:g.8039_8047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.421-19_421-11dup MANE Select	ENSP00000337701.4:n.421-19_421-11dup
ENST00000336615.8:c.421-19_421-11dup	ENSP00000337701.4:n.421-19_421-11dup
ENST00000525250.5:n.1027-19_1027-11dup
ENST00000534561.1:n.88-19_88-11dup
ENST00000617551.1:c.-830-19_-830-11dup	ENSP00000481602.1:n.-830-19_-830-11dup
NM_020376.3:c.421-19_421-11dup	NP_065109.1:n.421-19_421-11dup
XM_006718265.2:c.421-19_421-11dup	XP_006718328.1:n.421-19_421-11dup
XM_006718266.2:c.421-19_421-11dup	XP_006718329.1:n.421-19_421-11dup
XM_006718265.3:c.421-19_421-11dup	XP_006718328.1:n.421-19_421-11dup
XM_006718266.3:c.421-19_421-11dup	XP_006718329.1:n.421-19_421-11dup
XM_017018028.1:c.421-19_421-11dup	XP_016873517.1:n.421-19_421-11dup
XM_024448618.1:c.421-19_421-11dup	XP_024304386.1:n.421-19_421-11dup
NM_020376.4:c.421-19_421-11dup MANE Select	NP_065109.1:n.421-19_421-11dup