Canonical Allele Identifier: CA412374548

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911734C>G (hg19) ; chrX:g.18893616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893616C>G , CM000685.2:g.18893616C>G	GRCh38
NC_000023.10:g.18911734C>G , CM000685.1:g.18911734C>G	GRCh37
NC_000023.9:g.18821655C>G	NCBI36
NG_016622.1:g.95747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3577G>C (PHKA2) MANE Select	ENSP00000369274.4:p.Ala1193Pro
ENST00000379942.4:c.3577G>C (PHKA2)	ENSP00000369274.4:p.Ala1193Pro
ENST00000469485.5:n.1302G>C (PHKA2)
ENST00000473597.1:n.346G>C (PHKA2)
ENST00000481718.1:n.2471G>C (PHKA2)
NM_000292.2:c.3577G>C (PHKA2)	NP_000283.1:p.Ala1193Pro
NR_029379.1:n.467+278C>G (PHKA2-AS1)
XM_005274548.3:c.3523G>C (PHKA2)	XP_005274605.1:p.Ala1175Pro
XM_005274550.3:c.3493G>C (PHKA2)	XP_005274607.1:p.Ala1165Pro
XM_006724496.2:c.3601G>C (PHKA2)	XP_006724559.1:p.Ala1201Pro
XM_006724498.2:c.3055G>C (PHKA2)	XP_006724561.1:p.Ala1019Pro
XM_011545537.1:c.3502G>C (PHKA2)	XP_011543839.1:p.Ala1168Pro
XM_011545538.1:c.2584G>C (PHKA2)	XP_011543840.1:p.Ala862Pro
XM_005274548.5:c.3523G>C (PHKA2)	XP_005274605.1:p.Ala1175Pro
XM_005274550.5:c.3493G>C (PHKA2)	XP_005274607.1:p.Ala1165Pro
XM_006724496.4:c.3601G>C (PHKA2)	XP_006724559.1:p.Ala1201Pro
XM_006724498.4:c.3055G>C (PHKA2)	XP_006724561.1:p.Ala1019Pro
XM_011545537.3:c.3502G>C (PHKA2)	XP_011543839.1:p.Ala1168Pro
XM_011545538.3:c.2584G>C (PHKA2)	XP_011543840.1:p.Ala862Pro
XM_017029580.2:c.2695G>C (PHKA2)	XP_016885069.1:p.Ala899Pro
XR_001755698.2:n.5705G>C (PHKA2)
NM_000292.3:c.3577G>C (PHKA2) MANE Select	NP_000283.1:p.Ala1193Pro