Canonical Allele Identifier: CA412374517

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911725T>A (hg19) ; chrX:g.18893607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893607T>A , CM000685.2:g.18893607T>A	GRCh38
NC_000023.10:g.18911725T>A , CM000685.1:g.18911725T>A	GRCh37
NC_000023.9:g.18821646T>A	NCBI36
NG_016622.1:g.95756A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3586A>T (PHKA2) MANE Select	ENSP00000369274.4:p.Ile1196Phe
ENST00000379942.4:c.3586A>T (PHKA2)	ENSP00000369274.4:p.Ile1196Phe
ENST00000469485.5:n.1311A>T (PHKA2)
ENST00000473597.1:n.355A>T (PHKA2)
ENST00000481718.1:n.2480A>T (PHKA2)
NM_000292.2:c.3586A>T (PHKA2)	NP_000283.1:p.Ile1196Phe
NR_029379.1:n.467+269T>A (PHKA2-AS1)
XM_005274548.3:c.3532A>T (PHKA2)	XP_005274605.1:p.Ile1178Phe
XM_005274550.3:c.3502A>T (PHKA2)	XP_005274607.1:p.Ile1168Phe
XM_006724496.2:c.3610A>T (PHKA2)	XP_006724559.1:p.Ile1204Phe
XM_006724498.2:c.3064A>T (PHKA2)	XP_006724561.1:p.Ile1022Phe
XM_011545537.1:c.3511A>T (PHKA2)	XP_011543839.1:p.Ile1171Phe
XM_011545538.1:c.2593A>T (PHKA2)	XP_011543840.1:p.Ile865Phe
XM_005274548.5:c.3532A>T (PHKA2)	XP_005274605.1:p.Ile1178Phe
XM_005274550.5:c.3502A>T (PHKA2)	XP_005274607.1:p.Ile1168Phe
XM_006724496.4:c.3610A>T (PHKA2)	XP_006724559.1:p.Ile1204Phe
XM_006724498.4:c.3064A>T (PHKA2)	XP_006724561.1:p.Ile1022Phe
XM_011545537.3:c.3511A>T (PHKA2)	XP_011543839.1:p.Ile1171Phe
XM_011545538.3:c.2593A>T (PHKA2)	XP_011543840.1:p.Ile865Phe
XM_017029580.2:c.2704A>T (PHKA2)	XP_016885069.1:p.Ile902Phe
XR_001755698.2:n.5714A>T (PHKA2)
NM_000292.3:c.3586A>T (PHKA2) MANE Select	NP_000283.1:p.Ile1196Phe