Canonical Allele Identifier: CA515472701
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18911726T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893608T>G , CM000685.2:g.18893608T>G GRCh38
NC_000023.10:g.18911726T>G , CM000685.1:g.18911726T>G GRCh37
NC_000023.9:g.18821647T>G NCBI36
NG_016622.1:g.95755A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3585A>C (PHKA2) MANE Select ENSP00000369274.4:p.Gly1195=
ENST00000379942.4:c.3585A>C (PHKA2) ENSP00000369274.4:p.Gly1195=
ENST00000469485.5:n.1310A>C (PHKA2)
ENST00000473597.1:n.354A>C (PHKA2)
ENST00000481718.1:n.2479A>C (PHKA2)
NM_000292.2:c.3585A>C (PHKA2) NP_000283.1:p.Gly1195=
NR_029379.1:n.467+270T>G (PHKA2-AS1)
XM_005274548.3:c.3531A>C (PHKA2) XP_005274605.1:p.Gly1177=
XM_005274550.3:c.3501A>C (PHKA2) XP_005274607.1:p.Gly1167=
XM_006724496.2:c.3609A>C (PHKA2) XP_006724559.1:p.Gly1203=
XM_006724498.2:c.3063A>C (PHKA2) XP_006724561.1:p.Gly1021=
XM_011545537.1:c.3510A>C (PHKA2) XP_011543839.1:p.Gly1170=
XM_011545538.1:c.2592A>C (PHKA2) XP_011543840.1:p.Gly864=
XM_005274548.5:c.3531A>C (PHKA2) XP_005274605.1:p.Gly1177=
XM_005274550.5:c.3501A>C (PHKA2) XP_005274607.1:p.Gly1167=
XM_006724496.4:c.3609A>C (PHKA2) XP_006724559.1:p.Gly1203=
XM_006724498.4:c.3063A>C (PHKA2) XP_006724561.1:p.Gly1021=
XM_011545537.3:c.3510A>C (PHKA2) XP_011543839.1:p.Gly1170=
XM_011545538.3:c.2592A>C (PHKA2) XP_011543840.1:p.Gly864=
XM_017029580.2:c.2703A>C (PHKA2) XP_016885069.1:p.Gly901=
XR_001755698.2:n.5713A>C (PHKA2)
NM_000292.3:c.3585A>C (PHKA2) MANE Select NP_000283.1:p.Gly1195=