Canonical Allele Identifier: CA1947315167
Gene: PNPLA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822323T= , CM000673.2:g.822323T= GRCh38
NC_000011.9:g.822323T= , CM000673.1:g.822323T= GRCh37
NC_000011.8:g.812323T= NCBI36
NG_023394.1:g.8423T=

Transcript Alleles

HGVS Amino-acid change
ENST00000336615.9:c.487-74T= MANE Select ENSP00000337701.4:n.487-74T=
ENST00000336615.8:c.487-74T= ENSP00000337701.4:n.487-74T=
ENST00000525250.5:n.1093-74T=
ENST00000531923.1:n.308T=
ENST00000617551.1:c.-764-74T= ENSP00000481602.1:n.-764-74T=
NM_020376.3:c.487-74T= NP_065109.1:n.487-74T=
XM_006718265.2:c.487-74T= XP_006718328.1:n.487-74T=
XM_006718266.2:c.487-74T= XP_006718329.1:n.487-74T=
XM_006718265.3:c.487-74T= XP_006718328.1:n.487-74T=
XM_006718266.3:c.487-74T= XP_006718329.1:n.487-74T=
XM_017018028.1:c.487-74T= XP_016873517.1:n.487-74T=
XM_024448618.1:c.487-74T= XP_024304386.1:n.487-74T=
NM_020376.4:c.487-74T= MANE Select NP_065109.1:n.487-74T=