Canonical Allele Identifier: CA1947315003
Gene: PNPLA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822091C= , CM000673.2:g.822091C= GRCh38
NC_000011.9:g.822091C= , CM000673.1:g.822091C= GRCh37
NC_000011.8:g.812091C= NCBI36
NG_023394.1:g.8191C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.486+68C= MANE Select ENSP00000337701.4:n.486+68C=
ENST00000336615.8:c.486+68C= ENSP00000337701.4:n.486+68C=
ENST00000525250.5:n.1092+68C=
ENST00000531923.1:n.76C=
ENST00000534561.1:n.221C=
ENST00000617551.1:c.-765+68C= ENSP00000481602.1:n.-765+68C=
NM_020376.3:c.486+68C= NP_065109.1:n.486+68C=
XM_006718265.2:c.486+68C= XP_006718328.1:n.486+68C=
XM_006718266.2:c.486+68C= XP_006718329.1:n.486+68C=
XM_006718265.3:c.486+68C= XP_006718328.1:n.486+68C=
XM_006718266.3:c.486+68C= XP_006718329.1:n.486+68C=
XM_017018028.1:c.486+68C= XP_016873517.1:n.486+68C=
XM_024448618.1:c.486+68C= XP_024304386.1:n.486+68C=
NM_020376.4:c.486+68C= MANE Select NP_065109.1:n.486+68C=