Canonical Allele Identifier: CA327024885

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs984309635
• gnomAD v2: X-18911737-G-T
• MyVariant Identifiers: chrX:g.18911737G>T (hg19) ; chrX:g.18893619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893619G>T , CM000685.2:g.18893619G>T	GRCh38
NC_000023.10:g.18911737G>T , CM000685.1:g.18911737G>T	GRCh37
NC_000023.9:g.18821658G>T	NCBI36
NG_016622.1:g.95744C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3574C>A (PHKA2) MANE Select	ENSP00000369274.4:p.Gln1192Lys
ENST00000379942.4:c.3574C>A (PHKA2)	ENSP00000369274.4:p.Gln1192Lys
ENST00000469485.5:n.1299C>A (PHKA2)
ENST00000473597.1:n.343C>A (PHKA2)
ENST00000481718.1:n.2468C>A (PHKA2)
NM_000292.2:c.3574C>A (PHKA2)	NP_000283.1:p.Gln1192Lys
NR_029379.1:n.467+281G>T (PHKA2-AS1)
XM_005274548.3:c.3520C>A (PHKA2)	XP_005274605.1:p.Gln1174Lys
XM_005274550.3:c.3490C>A (PHKA2)	XP_005274607.1:p.Gln1164Lys
XM_006724496.2:c.3598C>A (PHKA2)	XP_006724559.1:p.Gln1200Lys
XM_006724498.2:c.3052C>A (PHKA2)	XP_006724561.1:p.Gln1018Lys
XM_011545537.1:c.3499C>A (PHKA2)	XP_011543839.1:p.Gln1167Lys
XM_011545538.1:c.2581C>A (PHKA2)	XP_011543840.1:p.Gln861Lys
XM_005274548.5:c.3520C>A (PHKA2)	XP_005274605.1:p.Gln1174Lys
XM_005274550.5:c.3490C>A (PHKA2)	XP_005274607.1:p.Gln1164Lys
XM_006724496.4:c.3598C>A (PHKA2)	XP_006724559.1:p.Gln1200Lys
XM_006724498.4:c.3052C>A (PHKA2)	XP_006724561.1:p.Gln1018Lys
XM_011545537.3:c.3499C>A (PHKA2)	XP_011543839.1:p.Gln1167Lys
XM_011545538.3:c.2581C>A (PHKA2)	XP_011543840.1:p.Gln861Lys
XM_017029580.2:c.2692C>A (PHKA2)	XP_016885069.1:p.Gln898Lys
XR_001755698.2:n.5702C>A (PHKA2)
NM_000292.3:c.3574C>A (PHKA2) MANE Select	NP_000283.1:p.Gln1192Lys