Canonical Allele Identifier: CA10361260

Gene: PHKA2 PHKA2-AS1

Linked Data

• ClinVar Variation Id: 3061037
• ClinVar RCV Id: RCV003982549
• dbSNP Id: rs745392510
• ExAC: X:18911746 C / T
• gnomAD v2: X-18911746-C-T
• gnomAD v3: X-18893628-C-T
• gnomAD v4: X-18893628-C-T
• MyVariant Identifiers: chrX:g.18911746C>T (hg19) ; chrX:g.18893628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893628C>T , CM000685.2:g.18893628C>T	GRCh38
NC_000023.10:g.18911746C>T , CM000685.1:g.18911746C>T	GRCh37
NC_000023.9:g.18821667C>T	NCBI36
NG_016622.1:g.95735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3565G>A (PHKA2) MANE Select	ENSP00000369274.4:p.Glu1189Lys
ENST00000379942.4:c.3565G>A (PHKA2)	ENSP00000369274.4:p.Glu1189Lys
ENST00000469485.5:n.1290G>A (PHKA2)
ENST00000473597.1:n.334G>A (PHKA2)
ENST00000481718.1:n.2459G>A (PHKA2)
NM_000292.2:c.3565G>A (PHKA2)	NP_000283.1:p.Glu1189Lys
NR_029379.1:n.467+290C>T (PHKA2-AS1)
XM_005274548.3:c.3511G>A (PHKA2)	XP_005274605.1:p.Glu1171Lys
XM_005274550.3:c.3481G>A (PHKA2)	XP_005274607.1:p.Glu1161Lys
XM_006724496.2:c.3589G>A (PHKA2)	XP_006724559.1:p.Glu1197Lys
XM_006724498.2:c.3043G>A (PHKA2)	XP_006724561.1:p.Glu1015Lys
XM_011545537.1:c.3490G>A (PHKA2)	XP_011543839.1:p.Glu1164Lys
XM_011545538.1:c.2572G>A (PHKA2)	XP_011543840.1:p.Glu858Lys
XM_005274548.5:c.3511G>A (PHKA2)	XP_005274605.1:p.Glu1171Lys
XM_005274550.5:c.3481G>A (PHKA2)	XP_005274607.1:p.Glu1161Lys
XM_006724496.4:c.3589G>A (PHKA2)	XP_006724559.1:p.Glu1197Lys
XM_006724498.4:c.3043G>A (PHKA2)	XP_006724561.1:p.Glu1015Lys
XM_011545537.3:c.3490G>A (PHKA2)	XP_011543839.1:p.Glu1164Lys
XM_011545538.3:c.2572G>A (PHKA2)	XP_011543840.1:p.Glu858Lys
XM_017029580.2:c.2683G>A (PHKA2)	XP_016885069.1:p.Glu895Lys
XR_001755698.2:n.5693G>A (PHKA2)
NM_000292.3:c.3565G>A (PHKA2) MANE Select	NP_000283.1:p.Glu1189Lys