Canonical Allele Identifier: CA5791076

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 882924
• ClinVar RCV Id: RCV001113010
• dbSNP Id: rs773938209
• ExAC: 11:822559 C / T
• gnomAD v2: 11-822559-C-T
• gnomAD v4: 11-822559-C-T
• MyVariant Identifiers: chr11:g.822559C>T (hg19) ; chr11:g.822559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822559C>T , CM000673.2:g.822559C>T	GRCh38
NC_000011.9:g.822559C>T , CM000673.1:g.822559C>T	GRCh37
NC_000011.8:g.812559C>T	NCBI36
NG_023394.1:g.8659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.649C>T MANE Select	ENSP00000337701.4:p.Arg217Cys
ENST00000336615.8:c.649C>T	ENSP00000337701.4:p.Arg217Cys
ENST00000525250.5:n.1255C>T
ENST00000531923.1:n.544C>T
ENST00000617551.1:c.-602C>T	ENSP00000481602.1:n.-602C>T
NM_020376.3:c.649C>T	NP_065109.1:p.Arg217Cys
XM_006718265.2:c.649C>T	XP_006718328.1:p.Arg217Cys
XM_006718266.2:c.649C>T	XP_006718329.1:p.Arg217Cys
XM_006718265.3:c.649C>T	XP_006718328.1:p.Arg217Cys
XM_006718266.3:c.649C>T	XP_006718329.1:p.Arg217Cys
XM_017018028.1:c.649C>T	XP_016873517.1:p.Arg217Cys
XM_024448618.1:c.649C>T	XP_024304386.1:p.Arg217Cys
NM_020376.4:c.649C>T MANE Select	NP_065109.1:p.Arg217Cys