Canonical Allele Identifier: CA515472808
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18911771C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893653C>A , CM000685.2:g.18893653C>A GRCh38
NC_000023.10:g.18911771C>A , CM000685.1:g.18911771C>A GRCh37
NC_000023.9:g.18821692C>A NCBI36
NG_016622.1:g.95710G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3540G>T (PHKA2) MANE Select ENSP00000369274.4:p.Val1180=
ENST00000379942.4:c.3540G>T (PHKA2) ENSP00000369274.4:p.Val1180=
ENST00000469485.5:n.1265G>T (PHKA2)
ENST00000473597.1:n.309G>T (PHKA2)
ENST00000481718.1:n.2434G>T (PHKA2)
NM_000292.2:c.3540G>T (PHKA2) NP_000283.1:p.Val1180=
NR_029379.1:n.467+315C>A (PHKA2-AS1)
XM_005274548.3:c.3486G>T (PHKA2) XP_005274605.1:p.Val1162=
XM_005274550.3:c.3456G>T (PHKA2) XP_005274607.1:p.Val1152=
XM_006724496.2:c.3564G>T (PHKA2) XP_006724559.1:p.Val1188=
XM_006724498.2:c.3018G>T (PHKA2) XP_006724561.1:p.Val1006=
XM_011545537.1:c.3465G>T (PHKA2) XP_011543839.1:p.Val1155=
XM_011545538.1:c.2547G>T (PHKA2) XP_011543840.1:p.Val849=
XM_005274548.5:c.3486G>T (PHKA2) XP_005274605.1:p.Val1162=
XM_005274550.5:c.3456G>T (PHKA2) XP_005274607.1:p.Val1152=
XM_006724496.4:c.3564G>T (PHKA2) XP_006724559.1:p.Val1188=
XM_006724498.4:c.3018G>T (PHKA2) XP_006724561.1:p.Val1006=
XM_011545537.3:c.3465G>T (PHKA2) XP_011543839.1:p.Val1155=
XM_011545538.3:c.2547G>T (PHKA2) XP_011543840.1:p.Val849=
XM_017029580.2:c.2658G>T (PHKA2) XP_016885069.1:p.Val886=
XR_001755698.2:n.5668G>T (PHKA2)
NM_000292.3:c.3540G>T (PHKA2) MANE Select NP_000283.1:p.Val1180=