Canonical Allele Identifier: CA2573880194
Gene: PNPLA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822307dup , CM000673.2:g.822307dup GRCh38
NC_000011.9:g.822307dup , CM000673.1:g.822307dup GRCh37
NC_000011.8:g.812307dup NCBI36
NG_023394.1:g.8407dup

Transcript Alleles

HGVS Amino-acid change
ENST00000336615.9:c.487-90dup MANE Select ENSP00000337701.4:n.487-90dup
ENST00000336615.8:c.487-90dup ENSP00000337701.4:n.487-90dup
ENST00000525250.5:n.1093-90dup
ENST00000531923.1:n.292dup
ENST00000617551.1:c.-764-90dup ENSP00000481602.1:n.-764-90dup
NM_020376.3:c.487-90dup NP_065109.1:n.487-90dup
XM_006718265.2:c.487-90dup XP_006718328.1:n.487-90dup
XM_006718266.2:c.487-90dup XP_006718329.1:n.487-90dup
XM_006718265.3:c.487-90dup XP_006718328.1:n.487-90dup
XM_006718266.3:c.487-90dup XP_006718329.1:n.487-90dup
XM_017018028.1:c.487-90dup XP_016873517.1:n.487-90dup
XM_024448618.1:c.487-90dup XP_024304386.1:n.487-90dup
NM_020376.4:c.487-90dup MANE Select NP_065109.1:n.487-90dup