Canonical Allele Identifier: CA1947314928
Gene: PNPLA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822001_822002delinsTC , CM000673.2:g.822001_822002delinsTC GRCh38
NC_000011.9:g.822001_822002delinsTC , CM000673.1:g.822001_822002delinsTC GRCh37
NC_000011.8:g.812001_812002delinsTC NCBI36
NG_023394.1:g.8101_8102delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.464_465delinsTC MANE Select ENSP00000337701.4:p.Ile155=
ENST00000336615.8:c.464_465delinsTC ENSP00000337701.4:p.Ile155=
ENST00000525250.5:n.1070_1071delinsTC
ENST00000534561.1:n.131_132delinsTC
ENST00000617551.1:c.-787_-786delinsTC ENSP00000481602.1:n.-787_-786delinsTC
NM_020376.3:c.464_465delinsTC NP_065109.1:p.Ile155=
XM_006718265.2:c.464_465delinsTC XP_006718328.1:p.Ile155=
XM_006718266.2:c.464_465delinsTC XP_006718329.1:p.Ile155=
XM_006718265.3:c.464_465delinsTC XP_006718328.1:p.Ile155=
XM_006718266.3:c.464_465delinsTC XP_006718329.1:p.Ile155=
XM_017018028.1:c.464_465delinsTC XP_016873517.1:p.Ile155=
XM_024448618.1:c.464_465delinsTC XP_024304386.1:p.Ile155=
NM_020376.4:c.464_465delinsTC MANE Select NP_065109.1:p.Ile155=