Canonical Allele Identifier: CA2693234333
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: X-18894415-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894415G>T , CM000685.2:g.18894415G>T GRCh38
NC_000023.10:g.18912533G>T , CM000685.1:g.18912533G>T GRCh37
NC_000023.9:g.18822454G>T NCBI36
NG_016622.1:g.94948C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379942.5:c.3337-11C>A (PHKA2) MANE Select ENSP00000369274.4:n.3337-11C>A
ENST00000379942.4:c.3337-11C>A (PHKA2) ENSP00000369274.4:n.3337-11C>A
ENST00000469485.5:n.1062-11C>A (PHKA2)
ENST00000473597.1:n.106-11C>A (PHKA2)
ENST00000473739.5:n.429-11C>A (PHKA2)
ENST00000481718.1:n.2220C>A (PHKA2)
NM_000292.2:c.3337-11C>A (PHKA2) NP_000283.1:n.3337-11C>A
NR_029379.1:n.736G>T (PHKA2-AS1)
XM_005274548.3:c.3283-11C>A (PHKA2) XP_005274605.1:n.3283-11C>A
XM_005274550.3:c.3253-11C>A (PHKA2) XP_005274607.1:n.3253-11C>A
XM_006724496.2:c.3361-11C>A (PHKA2) XP_006724559.1:n.3361-11C>A
XM_006724498.2:c.2815-11C>A (PHKA2) XP_006724561.1:n.2815-11C>A
XM_011545537.1:c.3262-11C>A (PHKA2) XP_011543839.1:n.3262-11C>A
XM_011545538.1:c.2344-11C>A (PHKA2) XP_011543840.1:n.2344-11C>A
XM_005274548.5:c.3283-11C>A (PHKA2) XP_005274605.1:n.3283-11C>A
XM_005274550.5:c.3253-11C>A (PHKA2) XP_005274607.1:n.3253-11C>A
XM_006724496.4:c.3361-11C>A (PHKA2) XP_006724559.1:n.3361-11C>A
XM_006724498.4:c.2815-11C>A (PHKA2) XP_006724561.1:n.2815-11C>A
XM_011545537.3:c.3262-11C>A (PHKA2) XP_011543839.1:n.3262-11C>A
XM_011545538.3:c.2344-11C>A (PHKA2) XP_011543840.1:n.2344-11C>A
XM_017029580.2:c.2455-11C>A (PHKA2) XP_016885069.1:n.2455-11C>A
XR_001755698.2:n.5465-11C>A (PHKA2)
XR_002958777.1:n.3542-11C>A (PHKA2)
NM_000292.3:c.3337-11C>A (PHKA2) MANE Select NP_000283.1:n.3337-11C>A