Canonical Allele Identifier: CA472441522

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 881773
• ClinVar RCV Id: RCV001111016
• dbSNP Id: rs1845681871
• MyVariant Identifiers: chr11:g.821981C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821981C>T , CM000673.2:g.821981C>T	GRCh38
NC_000011.9:g.821981C>T , CM000673.1:g.821981C>T	GRCh37
NC_000011.8:g.811981C>T	NCBI36
NG_023394.1:g.8081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.444C>T MANE Select	ENSP00000337701.4:p.Ile148=
ENST00000336615.8:c.444C>T	ENSP00000337701.4:p.Ile148=
ENST00000525250.5:n.1050C>T
ENST00000534561.1:n.111C>T
ENST00000617551.1:c.-807C>T	ENSP00000481602.1:n.-807C>T
NM_020376.3:c.444C>T	NP_065109.1:p.Ile148=
XM_006718265.2:c.444C>T	XP_006718328.1:p.Ile148=
XM_006718266.2:c.444C>T	XP_006718329.1:p.Ile148=
XM_006718265.3:c.444C>T	XP_006718328.1:p.Ile148=
XM_006718266.3:c.444C>T	XP_006718329.1:p.Ile148=
XM_017018028.1:c.444C>T	XP_016873517.1:p.Ile148=
XM_024448618.1:c.444C>T	XP_024304386.1:p.Ile148=
NM_020376.4:c.444C>T MANE Select	NP_065109.1:p.Ile148=