Canonical Allele Identifier: CA412376280

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18912519T>C (hg19) ; chrX:g.18894401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18894401T>C , CM000685.2:g.18894401T>C	GRCh38
NC_000023.10:g.18912519T>C , CM000685.1:g.18912519T>C	GRCh37
NC_000023.9:g.18822440T>C	NCBI36
NG_016622.1:g.94962A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.3340A>G (PHKA2) MANE Select	ENSP00000369274.4:p.Thr1114Ala
ENST00000379942.4:c.3340A>G (PHKA2)	ENSP00000369274.4:p.Thr1114Ala
ENST00000469485.5:n.1065A>G (PHKA2)
ENST00000473597.1:n.109A>G (PHKA2)
ENST00000473739.5:n.432A>G (PHKA2)
ENST00000481718.1:n.2234A>G (PHKA2)
NM_000292.2:c.3340A>G (PHKA2)	NP_000283.1:p.Thr1114Ala
NR_029379.1:n.722T>C (PHKA2-AS1)
XM_005274548.3:c.3286A>G (PHKA2)	XP_005274605.1:p.Thr1096Ala
XM_005274550.3:c.3256A>G (PHKA2)	XP_005274607.1:p.Thr1086Ala
XM_006724496.2:c.3364A>G (PHKA2)	XP_006724559.1:p.Thr1122Ala
XM_006724498.2:c.2818A>G (PHKA2)	XP_006724561.1:p.Thr940Ala
XM_011545537.1:c.3265A>G (PHKA2)	XP_011543839.1:p.Thr1089Ala
XM_011545538.1:c.2347A>G (PHKA2)	XP_011543840.1:p.Thr783Ala
XM_005274548.5:c.3286A>G (PHKA2)	XP_005274605.1:p.Thr1096Ala
XM_005274550.5:c.3256A>G (PHKA2)	XP_005274607.1:p.Thr1086Ala
XM_006724496.4:c.3364A>G (PHKA2)	XP_006724559.1:p.Thr1122Ala
XM_006724498.4:c.2818A>G (PHKA2)	XP_006724561.1:p.Thr940Ala
XM_011545537.3:c.3265A>G (PHKA2)	XP_011543839.1:p.Thr1089Ala
XM_011545538.3:c.2347A>G (PHKA2)	XP_011543840.1:p.Thr783Ala
XM_017029580.2:c.2458A>G (PHKA2)	XP_016885069.1:p.Thr820Ala
XR_001755698.2:n.5468A>G (PHKA2)
XR_002958777.1:n.3545A>G (PHKA2)
NM_000292.3:c.3340A>G (PHKA2) MANE Select	NP_000283.1:p.Thr1114Ala