Canonical Allele Identifier: CA515472686
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: X-18893599-G-A
MyVariant Identifiers: chrX:g.18911717G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893599G>A , CM000685.2:g.18893599G>A GRCh38
NC_000023.10:g.18911717G>A , CM000685.1:g.18911717G>A GRCh37
NC_000023.9:g.18821638G>A NCBI36
NG_016622.1:g.95764C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3594C>T (PHKA2) MANE Select ENSP00000369274.4:p.His1198=
ENST00000379942.4:c.3594C>T (PHKA2) ENSP00000369274.4:p.His1198=
ENST00000469485.5:n.1319C>T (PHKA2)
ENST00000473597.1:n.363C>T (PHKA2)
ENST00000481718.1:n.2488C>T (PHKA2)
NM_000292.2:c.3594C>T (PHKA2) NP_000283.1:p.His1198=
NR_029379.1:n.467+261G>A (PHKA2-AS1)
XM_005274548.3:c.3540C>T (PHKA2) XP_005274605.1:p.His1180=
XM_005274550.3:c.3510C>T (PHKA2) XP_005274607.1:p.His1170=
XM_006724496.2:c.3618C>T (PHKA2) XP_006724559.1:p.His1206=
XM_006724498.2:c.3072C>T (PHKA2) XP_006724561.1:p.His1024=
XM_011545537.1:c.3519C>T (PHKA2) XP_011543839.1:p.His1173=
XM_011545538.1:c.2601C>T (PHKA2) XP_011543840.1:p.His867=
XM_005274548.5:c.3540C>T (PHKA2) XP_005274605.1:p.His1180=
XM_005274550.5:c.3510C>T (PHKA2) XP_005274607.1:p.His1170=
XM_006724496.4:c.3618C>T (PHKA2) XP_006724559.1:p.His1206=
XM_006724498.4:c.3072C>T (PHKA2) XP_006724561.1:p.His1024=
XM_011545537.3:c.3519C>T (PHKA2) XP_011543839.1:p.His1173=
XM_011545538.3:c.2601C>T (PHKA2) XP_011543840.1:p.His867=
XM_017029580.2:c.2712C>T (PHKA2) XP_016885069.1:p.His904=
XR_001755698.2:n.5722C>T (PHKA2)
NM_000292.3:c.3594C>T (PHKA2) MANE Select NP_000283.1:p.His1198=