Canonical Allele Identifier: CA412375627
Community Standard Title: NM_000292.3(PHKA2):c.3422T>A (p.Val1141Glu)
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894319A>T , CM000685.2:g.18894319A>T GRCh38
NC_000023.10:g.18912437A>T , CM000685.1:g.18912437A>T GRCh37
NC_000023.9:g.18822358A>T NCBI36
NG_016622.1:g.95044T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3422T>A (PHKA2) MANE Select NP_000283.1:p.Val1141Glu
ENST00000379942.5:c.3422T>A (PHKA2) MANE Select ENSP00000369274.4:p.Val1141Glu
NM_000292.2:c.3422T>A (PHKA2) NP_000283.1:p.Val1141Glu
NR_029379.1:n.640A>T (PHKA2-AS1)
ENST00000379942.4:c.3422T>A (PHKA2) ENSP00000369274.4:p.Val1141Glu
ENST00000469485.5:n.1147T>A (PHKA2)
ENST00000473597.1:n.191T>A (PHKA2)
ENST00000473739.5:n.514T>A (PHKA2)
ENST00000481718.1:n.2316T>A (PHKA2)
XM_005274548.3:c.3368T>A (PHKA2) XP_005274605.1:p.Val1123Glu
XM_005274548.5:c.3368T>A (PHKA2) XP_005274605.1:p.Val1123Glu
XM_005274550.3:c.3338T>A (PHKA2) XP_005274607.1:p.Val1113Glu
XM_005274550.5:c.3338T>A (PHKA2) XP_005274607.1:p.Val1113Glu
XM_006724496.2:c.3446T>A (PHKA2) XP_006724559.1:p.Val1149Glu
XM_006724496.4:c.3446T>A (PHKA2) XP_006724559.1:p.Val1149Glu
XM_006724498.2:c.2900T>A (PHKA2) XP_006724561.1:p.Val967Glu
XM_006724498.4:c.2900T>A (PHKA2) XP_006724561.1:p.Val967Glu
XM_011545537.1:c.3347T>A (PHKA2) XP_011543839.1:p.Val1116Glu
XM_011545537.3:c.3347T>A (PHKA2) XP_011543839.1:p.Val1116Glu
XM_011545538.1:c.2429T>A (PHKA2) XP_011543840.1:p.Val810Glu
XM_011545538.3:c.2429T>A (PHKA2) XP_011543840.1:p.Val810Glu
XM_017029580.2:c.2540T>A (PHKA2) XP_016885069.1:p.Val847Glu
XR_001755698.2:n.5550T>A (PHKA2)
XR_002958777.1:n.3627T>A (PHKA2)