Canonical Allele Identifier: CA121109
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10533
dbSNP Id: rs137852293

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894400G>A , CM000685.2:g.18894400G>A GRCh38
NC_000023.10:g.18912518G>A , CM000685.1:g.18912518G>A GRCh37
NC_000023.9:g.18822439G>A NCBI36
NG_016622.1:g.94963C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379942.5:c.3341C>T (PHKA2) MANE Select ENSP00000369274.4:p.Thr1114Ile
ENST00000379942.4:c.3341C>T (PHKA2) ENSP00000369274.4:p.Thr1114Ile
ENST00000469485.5:n.1066C>T (PHKA2)
ENST00000473597.1:n.110C>T (PHKA2)
ENST00000473739.5:n.433C>T (PHKA2)
ENST00000481718.1:n.2235C>T (PHKA2)
NM_000292.2:c.3341C>T (PHKA2) NP_000283.1:p.Thr1114Ile
NR_029379.1:n.721G>A (PHKA2-AS1)
XM_005274548.3:c.3287C>T (PHKA2) XP_005274605.1:p.Thr1096Ile
XM_005274550.3:c.3257C>T (PHKA2) XP_005274607.1:p.Thr1086Ile
XM_006724496.2:c.3365C>T (PHKA2) XP_006724559.1:p.Thr1122Ile
XM_006724498.2:c.2819C>T (PHKA2) XP_006724561.1:p.Thr940Ile
XM_011545537.1:c.3266C>T (PHKA2) XP_011543839.1:p.Thr1089Ile
XM_011545538.1:c.2348C>T (PHKA2) XP_011543840.1:p.Thr783Ile
XM_005274548.5:c.3287C>T (PHKA2) XP_005274605.1:p.Thr1096Ile
XM_005274550.5:c.3257C>T (PHKA2) XP_005274607.1:p.Thr1086Ile
XM_006724496.4:c.3365C>T (PHKA2) XP_006724559.1:p.Thr1122Ile
XM_006724498.4:c.2819C>T (PHKA2) XP_006724561.1:p.Thr940Ile
XM_011545537.3:c.3266C>T (PHKA2) XP_011543839.1:p.Thr1089Ile
XM_011545538.3:c.2348C>T (PHKA2) XP_011543840.1:p.Thr783Ile
XM_017029580.2:c.2459C>T (PHKA2) XP_016885069.1:p.Thr820Ile
XR_001755698.2:n.5469C>T (PHKA2)
XR_002958777.1:n.3546C>T (PHKA2)
NM_000292.3:c.3341C>T (PHKA2) MANE Select NP_000283.1:p.Thr1114Ile