Canonical Allele Identifier: CA412374635
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893637C>G , CM000685.2:g.18893637C>G GRCh38
NC_000023.10:g.18911755C>G , CM000685.1:g.18911755C>G GRCh37
NC_000023.9:g.18821676C>G NCBI36
NG_016622.1:g.95726G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3556G>C (PHKA2) MANE Select ENSP00000369274.4:p.Asp1186His
ENST00000379942.4:c.3556G>C (PHKA2) ENSP00000369274.4:p.Asp1186His
ENST00000469485.5:n.1281G>C (PHKA2)
ENST00000473597.1:n.325G>C (PHKA2)
ENST00000481718.1:n.2450G>C (PHKA2)
NM_000292.2:c.3556G>C (PHKA2) NP_000283.1:p.Asp1186His
NR_029379.1:n.467+299C>G (PHKA2-AS1)
XM_005274548.3:c.3502G>C (PHKA2) XP_005274605.1:p.Asp1168His
XM_005274550.3:c.3472G>C (PHKA2) XP_005274607.1:p.Asp1158His
XM_006724496.2:c.3580G>C (PHKA2) XP_006724559.1:p.Asp1194His
XM_006724498.2:c.3034G>C (PHKA2) XP_006724561.1:p.Asp1012His
XM_011545537.1:c.3481G>C (PHKA2) XP_011543839.1:p.Asp1161His
XM_011545538.1:c.2563G>C (PHKA2) XP_011543840.1:p.Asp855His
XM_005274548.5:c.3502G>C (PHKA2) XP_005274605.1:p.Asp1168His
XM_005274550.5:c.3472G>C (PHKA2) XP_005274607.1:p.Asp1158His
XM_006724496.4:c.3580G>C (PHKA2) XP_006724559.1:p.Asp1194His
XM_006724498.4:c.3034G>C (PHKA2) XP_006724561.1:p.Asp1012His
XM_011545537.3:c.3481G>C (PHKA2) XP_011543839.1:p.Asp1161His
XM_011545538.3:c.2563G>C (PHKA2) XP_011543840.1:p.Asp855His
XM_017029580.2:c.2674G>C (PHKA2) XP_016885069.1:p.Asp892His
XR_001755698.2:n.5684G>C (PHKA2)
NM_000292.3:c.3556G>C (PHKA2) MANE Select NP_000283.1:p.Asp1186His