Canonical Allele Identifier: CA412374470
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893598A>G , CM000685.2:g.18893598A>G GRCh38
NC_000023.10:g.18911716A>G , CM000685.1:g.18911716A>G GRCh37
NC_000023.9:g.18821637A>G NCBI36
NG_016622.1:g.95765T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3595T>C (PHKA2) MANE Select ENSP00000369274.4:p.Phe1199Leu
ENST00000379942.4:c.3595T>C (PHKA2) ENSP00000369274.4:p.Phe1199Leu
ENST00000469485.5:n.1320T>C (PHKA2)
ENST00000473597.1:n.364T>C (PHKA2)
ENST00000481718.1:n.2489T>C (PHKA2)
NM_000292.2:c.3595T>C (PHKA2) NP_000283.1:p.Phe1199Leu
NR_029379.1:n.467+260A>G (PHKA2-AS1)
XM_005274548.3:c.3541T>C (PHKA2) XP_005274605.1:p.Phe1181Leu
XM_005274550.3:c.3511T>C (PHKA2) XP_005274607.1:p.Phe1171Leu
XM_006724496.2:c.3619T>C (PHKA2) XP_006724559.1:p.Phe1207Leu
XM_006724498.2:c.3073T>C (PHKA2) XP_006724561.1:p.Phe1025Leu
XM_011545537.1:c.3520T>C (PHKA2) XP_011543839.1:p.Phe1174Leu
XM_011545538.1:c.2602T>C (PHKA2) XP_011543840.1:p.Phe868Leu
XM_005274548.5:c.3541T>C (PHKA2) XP_005274605.1:p.Phe1181Leu
XM_005274550.5:c.3511T>C (PHKA2) XP_005274607.1:p.Phe1171Leu
XM_006724496.4:c.3619T>C (PHKA2) XP_006724559.1:p.Phe1207Leu
XM_006724498.4:c.3073T>C (PHKA2) XP_006724561.1:p.Phe1025Leu
XM_011545537.3:c.3520T>C (PHKA2) XP_011543839.1:p.Phe1174Leu
XM_011545538.3:c.2602T>C (PHKA2) XP_011543840.1:p.Phe868Leu
XM_017029580.2:c.2713T>C (PHKA2) XP_016885069.1:p.Phe905Leu
XR_001755698.2:n.5723T>C (PHKA2)
NM_000292.3:c.3595T>C (PHKA2) MANE Select NP_000283.1:p.Phe1199Leu