Canonical Allele Identifier: CA16621290
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420714
ClinVar RCV Id: RCV000482027
dbSNP Id: rs1064794657
MyVariant Identifiers: chrX:g.18911710_18911712del (hg19) chrX:g.18893592_18893594del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893593_18893595del , CM000685.2:g.18893593_18893595del GRCh38
NC_000023.10:g.18911711_18911713del , CM000685.1:g.18911711_18911713del GRCh37
NC_000023.9:g.18821632_18821634del NCBI36
NG_016622.1:g.95769_95771del

Transcript Alleles

HGVS Amino-acid change
ENST00000379942.5:c.3599_3601del (PHKA2) MANE Select ENSP00000369274.4:p.Phe1200del
ENST00000379942.4:c.3599_3601del (PHKA2) ENSP00000369274.4:p.Phe1200del
ENST00000469485.5:n.1324_1326del (PHKA2)
ENST00000473597.1:n.368_370del (PHKA2)
ENST00000481718.1:n.2493_2495del (PHKA2)
NM_000292.2:c.3599_3601del (PHKA2) NP_000283.1:p.Phe1200del
NR_029379.1:n.467+255_467+257del (PHKA2-AS1)
XM_005274548.3:c.3545_3547del (PHKA2) XP_005274605.1:p.Phe1182del
XM_005274550.3:c.3515_3517del (PHKA2) XP_005274607.1:p.Phe1172del
XM_006724496.2:c.3623_3625del (PHKA2) XP_006724559.1:p.Phe1208del
XM_006724498.2:c.3077_3079del (PHKA2) XP_006724561.1:p.Phe1026del
XM_011545537.1:c.3524_3526del (PHKA2) XP_011543839.1:p.Phe1175del
XM_011545538.1:c.2606_2608del (PHKA2) XP_011543840.1:p.Phe869del
XM_005274548.5:c.3545_3547del (PHKA2) XP_005274605.1:p.Phe1182del
XM_005274550.5:c.3515_3517del (PHKA2) XP_005274607.1:p.Phe1172del
XM_006724496.4:c.3623_3625del (PHKA2) XP_006724559.1:p.Phe1208del
XM_006724498.4:c.3077_3079del (PHKA2) XP_006724561.1:p.Phe1026del
XM_011545537.3:c.3524_3526del (PHKA2) XP_011543839.1:p.Phe1175del
XM_011545538.3:c.2606_2608del (PHKA2) XP_011543840.1:p.Phe869del
XM_017029580.2:c.2717_2719del (PHKA2) XP_016885069.1:p.Phe906del
XR_001755698.2:n.5727_5729del (PHKA2)
NM_000292.3:c.3599_3601del (PHKA2) MANE Select NP_000283.1:p.Phe1200del
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