Canonical Allele Identifier: CA378980378

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822519-C-G
• MyVariant Identifiers: chr11:g.822519C>G (hg19) ; chr11:g.822519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822519C>G , CM000673.2:g.822519C>G	GRCh38
NC_000011.9:g.822519C>G , CM000673.1:g.822519C>G	GRCh37
NC_000011.8:g.812519C>G	NCBI36
NG_023394.1:g.8619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.609C>G MANE Select	ENSP00000337701.4:p.His203Gln
ENST00000336615.8:c.609C>G	ENSP00000337701.4:p.His203Gln
ENST00000525250.5:n.1215C>G
ENST00000531923.1:n.504C>G
ENST00000617551.1:c.-642C>G	ENSP00000481602.1:n.-642C>G
NM_020376.3:c.609C>G	NP_065109.1:p.His203Gln
XM_006718265.2:c.609C>G	XP_006718328.1:p.His203Gln
XM_006718266.2:c.609C>G	XP_006718329.1:p.His203Gln
XM_006718265.3:c.609C>G	XP_006718328.1:p.His203Gln
XM_006718266.3:c.609C>G	XP_006718329.1:p.His203Gln
XM_017018028.1:c.609C>G	XP_016873517.1:p.His203Gln
XM_024448618.1:c.609C>G	XP_024304386.1:p.His203Gln
NM_020376.4:c.609C>G MANE Select	NP_065109.1:p.His203Gln