Canonical Allele Identifier: CA368249654
Community Standard Title: NM_000305.3(PON2):c.443C>A (p.Ala148Glu)
Gene: PON2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.95411704G>T , CM000669.2:g.95411704G>T GRCh38
NC_000007.13:g.95041016G>T , CM000669.1:g.95041016G>T GRCh37
NC_000007.12:g.94878952G>T NCBI36
NG_008725.1:g.28369C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000305.3:c.443C>A MANE Select NP_000296.2:p.Ala148Glu
ENST00000222572.8:c.443C>A MANE Select ENSP00000222572.3:p.Ala148Glu
NM_000305.2:c.443C>A NP_000296.2:p.Ala148Glu
NM_001018161.1:c.407C>A NP_001018171.1:p.Ala136Glu
NM_001018161.2:c.407C>A NP_001018171.1:p.Ala136Glu
ENST00000222572.7:c.443C>A ENSP00000222572.3:p.Ala148Glu
ENST00000433091.6:c.407C>A ENSP00000404622.2:p.Ala136Glu
ENST00000446142.5:c.*308C>A ENSP00000405211.1:n.*308C>A
ENST00000455123.5:c.443C>A ENSP00000414515.1:p.Ala148Glu
ENST00000469926.5:c.185C>A ENSP00000488550.1:p.Ala62Glu
ENST00000490778.5:c.185C>A ENSP00000488826.1:p.Ala62Glu
ENST00000491069.5:c.513C>A ENSP00000488462.1:n.513C>A
ENST00000632034.1:c.*258C>A ENSP00000487898.1:n.*258C>A
ENST00000633192.1:c.506C>A ENSP00000488378.1:p.Ala169Glu
ENST00000633531.1:c.443C>A ENSP00000488838.1:p.Ala148Glu
XM_005250453.1:c.239C>A XP_005250510.1:p.Ala80Glu
XM_005250454.1:c.233C>A XP_005250511.1:p.Ala78Glu
XM_011516333.1:c.185C>A XP_011514635.1:p.Ala62Glu
XM_017012357.2:c.233C>A XP_016867846.1:p.Ala78Glu
XM_017012358.2:c.185C>A XP_016867847.1:p.Ala62Glu