Canonical Allele Identifier: CA255293
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10531
dbSNP Id: rs137852288

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893579G>A , CM000685.2:g.18893579G>A GRCh38
NC_000023.10:g.18911697G>A , CM000685.1:g.18911697G>A GRCh37
NC_000023.9:g.18821618G>A NCBI36
NG_016622.1:g.95784C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379942.5:c.3614C>T (PHKA2) MANE Select ENSP00000369274.4:p.Pro1205Leu
ENST00000379942.4:c.3614C>T (PHKA2) ENSP00000369274.4:p.Pro1205Leu
ENST00000469485.5:n.1339C>T (PHKA2)
ENST00000473597.1:n.383C>T (PHKA2)
ENST00000481718.1:n.2508C>T (PHKA2)
NM_000292.2:c.3614C>T (PHKA2) NP_000283.1:p.Pro1205Leu
NR_029379.1:n.467+241G>A (PHKA2-AS1)
XM_005274548.3:c.3560C>T (PHKA2) XP_005274605.1:p.Pro1187Leu
XM_005274550.3:c.3530C>T (PHKA2) XP_005274607.1:p.Pro1177Leu
XM_006724496.2:c.3638C>T (PHKA2) XP_006724559.1:p.Pro1213Leu
XM_006724498.2:c.3092C>T (PHKA2) XP_006724561.1:p.Pro1031Leu
XM_011545537.1:c.3539C>T (PHKA2) XP_011543839.1:p.Pro1180Leu
XM_011545538.1:c.2621C>T (PHKA2) XP_011543840.1:p.Pro874Leu
XM_005274548.5:c.3560C>T (PHKA2) XP_005274605.1:p.Pro1187Leu
XM_005274550.5:c.3530C>T (PHKA2) XP_005274607.1:p.Pro1177Leu
XM_006724496.4:c.3638C>T (PHKA2) XP_006724559.1:p.Pro1213Leu
XM_006724498.4:c.3092C>T (PHKA2) XP_006724561.1:p.Pro1031Leu
XM_011545537.3:c.3539C>T (PHKA2) XP_011543839.1:p.Pro1180Leu
XM_011545538.3:c.2621C>T (PHKA2) XP_011543840.1:p.Pro874Leu
XM_017029580.2:c.2732C>T (PHKA2) XP_016885069.1:p.Pro911Leu
XR_001755698.2:n.5742C>T (PHKA2)
NM_000292.3:c.3614C>T (PHKA2) MANE Select NP_000283.1:p.Pro1205Leu