Canonical Allele Identifier: CA2611770648

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-821897-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821897G>C , CM000673.2:g.821897G>C	GRCh38
NC_000011.9:g.821897G>C , CM000673.1:g.821897G>C	GRCh37
NC_000011.8:g.811897G>C	NCBI36
NG_023394.1:g.7997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.420+37G>C MANE Select	ENSP00000337701.4:n.420+37G>C
ENST00000336615.8:c.420+37G>C	ENSP00000337701.4:n.420+37G>C
ENST00000525250.5:n.1026+37G>C
ENST00000534561.1:n.87+37G>C
ENST00000617551.1:c.-831+37G>C	ENSP00000481602.1:n.-831+37G>C
NM_020376.3:c.420+37G>C	NP_065109.1:n.420+37G>C
XM_006718265.2:c.420+37G>C	XP_006718328.1:n.420+37G>C
XM_006718266.2:c.420+37G>C	XP_006718329.1:n.420+37G>C
XM_006718265.3:c.420+37G>C	XP_006718328.1:n.420+37G>C
XM_006718266.3:c.420+37G>C	XP_006718329.1:n.420+37G>C
XM_017018028.1:c.420+37G>C	XP_016873517.1:n.420+37G>C
XM_024448618.1:c.420+37G>C	XP_024304386.1:n.420+37G>C
NM_020376.4:c.420+37G>C MANE Select	NP_065109.1:n.420+37G>C