Canonical Allele Identifier: CA378980506
Gene: PNPLA2 HGNC NCBI

Linked Data

gnomAD v4: 11-822569-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822569A>G , CM000673.2:g.822569A>G GRCh38
NC_000011.9:g.822569A>G , CM000673.1:g.822569A>G GRCh37
NC_000011.8:g.812569A>G NCBI36
NG_023394.1:g.8669A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.659A>G MANE Select ENSP00000337701.4:p.Tyr220Cys
ENST00000336615.8:c.659A>G ENSP00000337701.4:p.Tyr220Cys
ENST00000525250.5:n.1265A>G
ENST00000531923.1:n.554A>G
ENST00000617551.1:c.-592A>G ENSP00000481602.1:n.-592A>G
NM_020376.3:c.659A>G NP_065109.1:p.Tyr220Cys
XM_006718265.2:c.659A>G XP_006718328.1:p.Tyr220Cys
XM_006718266.2:c.659A>G XP_006718329.1:p.Tyr220Cys
XM_006718265.3:c.659A>G XP_006718328.1:p.Tyr220Cys
XM_006718266.3:c.659A>G XP_006718329.1:p.Tyr220Cys
XM_017018028.1:c.659A>G XP_016873517.1:p.Tyr220Cys
XM_024448618.1:c.659A>G XP_024304386.1:p.Tyr220Cys
NM_020376.4:c.659A>G MANE Select NP_065109.1:p.Tyr220Cys