Canonical Allele Identifier: CA412374514
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893607T>C , CM000685.2:g.18893607T>C GRCh38
NC_000023.10:g.18911725T>C , CM000685.1:g.18911725T>C GRCh37
NC_000023.9:g.18821646T>C NCBI36
NG_016622.1:g.95756A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3586A>G (PHKA2) MANE Select ENSP00000369274.4:p.Ile1196Val
ENST00000379942.4:c.3586A>G (PHKA2) ENSP00000369274.4:p.Ile1196Val
ENST00000469485.5:n.1311A>G (PHKA2)
ENST00000473597.1:n.355A>G (PHKA2)
ENST00000481718.1:n.2480A>G (PHKA2)
NM_000292.2:c.3586A>G (PHKA2) NP_000283.1:p.Ile1196Val
NR_029379.1:n.467+269T>C (PHKA2-AS1)
XM_005274548.3:c.3532A>G (PHKA2) XP_005274605.1:p.Ile1178Val
XM_005274550.3:c.3502A>G (PHKA2) XP_005274607.1:p.Ile1168Val
XM_006724496.2:c.3610A>G (PHKA2) XP_006724559.1:p.Ile1204Val
XM_006724498.2:c.3064A>G (PHKA2) XP_006724561.1:p.Ile1022Val
XM_011545537.1:c.3511A>G (PHKA2) XP_011543839.1:p.Ile1171Val
XM_011545538.1:c.2593A>G (PHKA2) XP_011543840.1:p.Ile865Val
XM_005274548.5:c.3532A>G (PHKA2) XP_005274605.1:p.Ile1178Val
XM_005274550.5:c.3502A>G (PHKA2) XP_005274607.1:p.Ile1168Val
XM_006724496.4:c.3610A>G (PHKA2) XP_006724559.1:p.Ile1204Val
XM_006724498.4:c.3064A>G (PHKA2) XP_006724561.1:p.Ile1022Val
XM_011545537.3:c.3511A>G (PHKA2) XP_011543839.1:p.Ile1171Val
XM_011545538.3:c.2593A>G (PHKA2) XP_011543840.1:p.Ile865Val
XM_017029580.2:c.2704A>G (PHKA2) XP_016885069.1:p.Ile902Val
XR_001755698.2:n.5714A>G (PHKA2)
NM_000292.3:c.3586A>G (PHKA2) MANE Select NP_000283.1:p.Ile1196Val