Canonical Allele Identifier: CA412374474

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911717G>C (hg19) ; chrX:g.18893599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893599G>C , CM000685.2:g.18893599G>C	GRCh38
NC_000023.10:g.18911717G>C , CM000685.1:g.18911717G>C	GRCh37
NC_000023.9:g.18821638G>C	NCBI36
NG_016622.1:g.95764C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3594C>G (PHKA2) MANE Select	ENSP00000369274.4:p.His1198Gln
ENST00000379942.4:c.3594C>G (PHKA2)	ENSP00000369274.4:p.His1198Gln
ENST00000469485.5:n.1319C>G (PHKA2)
ENST00000473597.1:n.363C>G (PHKA2)
ENST00000481718.1:n.2488C>G (PHKA2)
NM_000292.2:c.3594C>G (PHKA2)	NP_000283.1:p.His1198Gln
NR_029379.1:n.467+261G>C (PHKA2-AS1)
XM_005274548.3:c.3540C>G (PHKA2)	XP_005274605.1:p.His1180Gln
XM_005274550.3:c.3510C>G (PHKA2)	XP_005274607.1:p.His1170Gln
XM_006724496.2:c.3618C>G (PHKA2)	XP_006724559.1:p.His1206Gln
XM_006724498.2:c.3072C>G (PHKA2)	XP_006724561.1:p.His1024Gln
XM_011545537.1:c.3519C>G (PHKA2)	XP_011543839.1:p.His1173Gln
XM_011545538.1:c.2601C>G (PHKA2)	XP_011543840.1:p.His867Gln
XM_005274548.5:c.3540C>G (PHKA2)	XP_005274605.1:p.His1180Gln
XM_005274550.5:c.3510C>G (PHKA2)	XP_005274607.1:p.His1170Gln
XM_006724496.4:c.3618C>G (PHKA2)	XP_006724559.1:p.His1206Gln
XM_006724498.4:c.3072C>G (PHKA2)	XP_006724561.1:p.His1024Gln
XM_011545537.3:c.3519C>G (PHKA2)	XP_011543839.1:p.His1173Gln
XM_011545538.3:c.2601C>G (PHKA2)	XP_011543840.1:p.His867Gln
XM_017029580.2:c.2712C>G (PHKA2)	XP_016885069.1:p.His904Gln
XR_001755698.2:n.5722C>G (PHKA2)
NM_000292.3:c.3594C>G (PHKA2) MANE Select	NP_000283.1:p.His1198Gln