Canonical Allele Identifier: CA515472773
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1304255736
gnomAD v2: X-18911753-G-A
gnomAD v4: X-18893635-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893635G>A , CM000685.2:g.18893635G>A GRCh38
NC_000023.10:g.18911753G>A , CM000685.1:g.18911753G>A GRCh37
NC_000023.9:g.18821674G>A NCBI36
NG_016622.1:g.95728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3558C>T (PHKA2) MANE Select ENSP00000369274.4:p.Asp1186=
ENST00000379942.4:c.3558C>T (PHKA2) ENSP00000369274.4:p.Asp1186=
ENST00000469485.5:n.1283C>T (PHKA2)
ENST00000473597.1:n.327C>T (PHKA2)
ENST00000481718.1:n.2452C>T (PHKA2)
NM_000292.2:c.3558C>T (PHKA2) NP_000283.1:p.Asp1186=
NR_029379.1:n.467+297G>A (PHKA2-AS1)
XM_005274548.3:c.3504C>T (PHKA2) XP_005274605.1:p.Asp1168=
XM_005274550.3:c.3474C>T (PHKA2) XP_005274607.1:p.Asp1158=
XM_006724496.2:c.3582C>T (PHKA2) XP_006724559.1:p.Asp1194=
XM_006724498.2:c.3036C>T (PHKA2) XP_006724561.1:p.Asp1012=
XM_011545537.1:c.3483C>T (PHKA2) XP_011543839.1:p.Asp1161=
XM_011545538.1:c.2565C>T (PHKA2) XP_011543840.1:p.Asp855=
XM_005274548.5:c.3504C>T (PHKA2) XP_005274605.1:p.Asp1168=
XM_005274550.5:c.3474C>T (PHKA2) XP_005274607.1:p.Asp1158=
XM_006724496.4:c.3582C>T (PHKA2) XP_006724559.1:p.Asp1194=
XM_006724498.4:c.3036C>T (PHKA2) XP_006724561.1:p.Asp1012=
XM_011545537.3:c.3483C>T (PHKA2) XP_011543839.1:p.Asp1161=
XM_011545538.3:c.2565C>T (PHKA2) XP_011543840.1:p.Asp855=
XM_017029580.2:c.2676C>T (PHKA2) XP_016885069.1:p.Asp892=
XR_001755698.2:n.5686C>T (PHKA2)
NM_000292.3:c.3558C>T (PHKA2) MANE Select NP_000283.1:p.Asp1186=