Canonical Allele Identifier: CA515472660
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18911699A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893581A>C , CM000685.2:g.18893581A>C GRCh38
NC_000023.10:g.18911699A>C , CM000685.1:g.18911699A>C GRCh37
NC_000023.9:g.18821620A>C NCBI36
NG_016622.1:g.95782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3612T>G (PHKA2) MANE Select ENSP00000369274.4:p.Ala1204=
ENST00000379942.4:c.3612T>G (PHKA2) ENSP00000369274.4:p.Ala1204=
ENST00000469485.5:n.1337T>G (PHKA2)
ENST00000473597.1:n.381T>G (PHKA2)
ENST00000481718.1:n.2506T>G (PHKA2)
NM_000292.2:c.3612T>G (PHKA2) NP_000283.1:p.Ala1204=
NR_029379.1:n.467+243A>C (PHKA2-AS1)
XM_005274548.3:c.3558T>G (PHKA2) XP_005274605.1:p.Ala1186=
XM_005274550.3:c.3528T>G (PHKA2) XP_005274607.1:p.Ala1176=
XM_006724496.2:c.3636T>G (PHKA2) XP_006724559.1:p.Ala1212=
XM_006724498.2:c.3090T>G (PHKA2) XP_006724561.1:p.Ala1030=
XM_011545537.1:c.3537T>G (PHKA2) XP_011543839.1:p.Ala1179=
XM_011545538.1:c.2619T>G (PHKA2) XP_011543840.1:p.Ala873=
XM_005274548.5:c.3558T>G (PHKA2) XP_005274605.1:p.Ala1186=
XM_005274550.5:c.3528T>G (PHKA2) XP_005274607.1:p.Ala1176=
XM_006724496.4:c.3636T>G (PHKA2) XP_006724559.1:p.Ala1212=
XM_006724498.4:c.3090T>G (PHKA2) XP_006724561.1:p.Ala1030=
XM_011545537.3:c.3537T>G (PHKA2) XP_011543839.1:p.Ala1179=
XM_011545538.3:c.2619T>G (PHKA2) XP_011543840.1:p.Ala873=
XM_017029580.2:c.2730T>G (PHKA2) XP_016885069.1:p.Ala910=
XR_001755698.2:n.5740T>G (PHKA2)
NM_000292.3:c.3612T>G (PHKA2) MANE Select NP_000283.1:p.Ala1204=