Canonical Allele Identifier: CA5791008

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 1088850
• ClinVar RCV Id: RCV001407496
• dbSNP Id: rs774288999
• ExAC: 11:822032 T / G
• gnomAD v2: 11-822032-T-G
• gnomAD v4: 11-822032-T-G
• MyVariant Identifiers: chr11:g.822032T>G (hg19) ; chr11:g.822032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822032T>G , CM000673.2:g.822032T>G	GRCh38
NC_000011.9:g.822032T>G , CM000673.1:g.822032T>G	GRCh37
NC_000011.8:g.812032T>G	NCBI36
NG_023394.1:g.8132T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.486+9T>G MANE Select	ENSP00000337701.4:n.486+9T>G
ENST00000336615.8:c.486+9T>G	ENSP00000337701.4:n.486+9T>G
ENST00000525250.5:n.1092+9T>G
ENST00000531923.1:n.17T>G
ENST00000534561.1:n.162T>G
ENST00000617551.1:c.-765+9T>G	ENSP00000481602.1:n.-765+9T>G
NM_020376.3:c.486+9T>G	NP_065109.1:n.486+9T>G
XM_006718265.2:c.486+9T>G	XP_006718328.1:n.486+9T>G
XM_006718266.2:c.486+9T>G	XP_006718329.1:n.486+9T>G
XM_006718265.3:c.486+9T>G	XP_006718328.1:n.486+9T>G
XM_006718266.3:c.486+9T>G	XP_006718329.1:n.486+9T>G
XM_017018028.1:c.486+9T>G	XP_016873517.1:n.486+9T>G
XM_024448618.1:c.486+9T>G	XP_024304386.1:n.486+9T>G
NM_020376.4:c.486+9T>G MANE Select	NP_065109.1:n.486+9T>G