Canonical Allele Identifier: CA472441529

Gene: PNPLA2

Linked Data

• MyVariant Identifiers: chr11:g.821984C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821984C>A , CM000673.2:g.821984C>A	GRCh38
NC_000011.9:g.821984C>A , CM000673.1:g.821984C>A	GRCh37
NC_000011.8:g.811984C>A	NCBI36
NG_023394.1:g.8084C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.447C>A MANE Select	ENSP00000337701.4:p.Pro149=
ENST00000336615.8:c.447C>A	ENSP00000337701.4:p.Pro149=
ENST00000525250.5:n.1053C>A
ENST00000534561.1:n.114C>A
ENST00000617551.1:c.-804C>A	ENSP00000481602.1:n.-804C>A
NM_020376.3:c.447C>A	NP_065109.1:p.Pro149=
XM_006718265.2:c.447C>A	XP_006718328.1:p.Pro149=
XM_006718266.2:c.447C>A	XP_006718329.1:p.Pro149=
XM_006718265.3:c.447C>A	XP_006718328.1:p.Pro149=
XM_006718266.3:c.447C>A	XP_006718329.1:p.Pro149=
XM_017018028.1:c.447C>A	XP_016873517.1:p.Pro149=
XM_024448618.1:c.447C>A	XP_024304386.1:p.Pro149=
NM_020376.4:c.447C>A MANE Select	NP_065109.1:p.Pro149=