Canonical Allele Identifier: CA378980002

Gene: PNPLA2

Linked Data

• MyVariant Identifiers: chr11:g.822416T>A (hg19) ; chr11:g.822416T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822416T>A , CM000673.2:g.822416T>A	GRCh38
NC_000011.9:g.822416T>A , CM000673.1:g.822416T>A	GRCh37
NC_000011.8:g.812416T>A	NCBI36
NG_023394.1:g.8516T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.506T>A MANE Select	ENSP00000337701.4:p.Ile169Asn
ENST00000336615.8:c.506T>A	ENSP00000337701.4:p.Ile169Asn
ENST00000525250.5:n.1112T>A
ENST00000531923.1:n.401T>A
ENST00000617551.1:c.-745T>A	ENSP00000481602.1:n.-745T>A
NM_020376.3:c.506T>A	NP_065109.1:p.Ile169Asn
XM_006718265.2:c.506T>A	XP_006718328.1:p.Ile169Asn
XM_006718266.2:c.506T>A	XP_006718329.1:p.Ile169Asn
XM_006718265.3:c.506T>A	XP_006718328.1:p.Ile169Asn
XM_006718266.3:c.506T>A	XP_006718329.1:p.Ile169Asn
XM_017018028.1:c.506T>A	XP_016873517.1:p.Ile169Asn
XM_024448618.1:c.506T>A	XP_024304386.1:p.Ile169Asn
NM_020376.4:c.506T>A MANE Select	NP_065109.1:p.Ile169Asn