Canonical Allele Identifier: CA472352637
Gene: PNPLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.822522G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822522G>A , CM000673.2:g.822522G>A GRCh38
NC_000011.9:g.822522G>A , CM000673.1:g.822522G>A GRCh37
NC_000011.8:g.812522G>A NCBI36
NG_023394.1:g.8622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.612G>A MANE Select ENSP00000337701.4:p.Glu204=
ENST00000336615.8:c.612G>A ENSP00000337701.4:p.Glu204=
ENST00000525250.5:n.1218G>A
ENST00000531923.1:n.507G>A
ENST00000617551.1:c.-639G>A ENSP00000481602.1:n.-639G>A
NM_020376.3:c.612G>A NP_065109.1:p.Glu204=
XM_006718265.2:c.612G>A XP_006718328.1:p.Glu204=
XM_006718266.2:c.612G>A XP_006718329.1:p.Glu204=
XM_006718265.3:c.612G>A XP_006718328.1:p.Glu204=
XM_006718266.3:c.612G>A XP_006718329.1:p.Glu204=
XM_017018028.1:c.612G>A XP_016873517.1:p.Glu204=
XM_024448618.1:c.612G>A XP_024304386.1:p.Glu204=
NM_020376.4:c.612G>A MANE Select NP_065109.1:p.Glu204=