Canonical Allele Identifier: CA2611772544

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822308-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822308C>A , CM000673.2:g.822308C>A	GRCh38
NC_000011.9:g.822308C>A , CM000673.1:g.822308C>A	GRCh37
NC_000011.8:g.812308C>A	NCBI36
NG_023394.1:g.8408C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.487-89C>A MANE Select	ENSP00000337701.4:n.487-89C>A
ENST00000336615.8:c.487-89C>A	ENSP00000337701.4:n.487-89C>A
ENST00000525250.5:n.1093-89C>A
ENST00000531923.1:n.293C>A
ENST00000617551.1:c.-764-89C>A	ENSP00000481602.1:n.-764-89C>A
NM_020376.3:c.487-89C>A	NP_065109.1:n.487-89C>A
XM_006718265.2:c.487-89C>A	XP_006718328.1:n.487-89C>A
XM_006718266.2:c.487-89C>A	XP_006718329.1:n.487-89C>A
XM_006718265.3:c.487-89C>A	XP_006718328.1:n.487-89C>A
XM_006718266.3:c.487-89C>A	XP_006718329.1:n.487-89C>A
XM_017018028.1:c.487-89C>A	XP_016873517.1:n.487-89C>A
XM_024448618.1:c.487-89C>A	XP_024304386.1:n.487-89C>A
NM_020376.4:c.487-89C>A MANE Select	NP_065109.1:n.487-89C>A