Canonical Allele Identifier: CA1947315041

Gene: PNPLA2

Linked Data

• dbSNP Id: rs1845687847
• gnomAD v4: 11-822139-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822139A>G , CM000673.2:g.822139A>G	GRCh38
NC_000011.9:g.822139A>G , CM000673.1:g.822139A>G	GRCh37
NC_000011.8:g.812139A>G	NCBI36
NG_023394.1:g.8239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.486+116A>G MANE Select	ENSP00000337701.4:n.486+116A>G
ENST00000336615.8:c.486+116A>G	ENSP00000337701.4:n.486+116A>G
ENST00000525250.5:n.1092+116A>G
ENST00000531923.1:n.124A>G
ENST00000534561.1:n.269A>G
ENST00000617551.1:c.-765+116A>G	ENSP00000481602.1:n.-765+116A>G
NM_020376.3:c.486+116A>G	NP_065109.1:n.486+116A>G
XM_006718265.2:c.486+116A>G	XP_006718328.1:n.486+116A>G
XM_006718266.2:c.486+116A>G	XP_006718329.1:n.486+116A>G
XM_006718265.3:c.486+116A>G	XP_006718328.1:n.486+116A>G
XM_006718266.3:c.486+116A>G	XP_006718329.1:n.486+116A>G
XM_017018028.1:c.486+116A>G	XP_016873517.1:n.486+116A>G
XM_024448618.1:c.486+116A>G	XP_024304386.1:n.486+116A>G
NM_020376.4:c.486+116A>G MANE Select	NP_065109.1:n.486+116A>G