Canonical Allele Identifier: CA412374494

Gene: PHKA2 PHKA2-AS1

Linked Data

• ClinVar Variation Id: 634545
• ClinVar RCV Id: RCV000785050 ; RCV002535715
• dbSNP Id: rs1569286164
• gnomAD v4: X-18893603-C-A
• MyVariant Identifiers: chrX:g.18911721C>A (hg19) ; chrX:g.18893603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893603C>A , CM000685.2:g.18893603C>A	GRCh38
NC_000023.10:g.18911721C>A , CM000685.1:g.18911721C>A	GRCh37
NC_000023.9:g.18821642C>A	NCBI36
NG_016622.1:g.95760G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3590G>T (PHKA2) MANE Select	ENSP00000369274.4:p.Cys1197Phe
ENST00000379942.4:c.3590G>T (PHKA2)	ENSP00000369274.4:p.Cys1197Phe
ENST00000469485.5:n.1315G>T (PHKA2)
ENST00000473597.1:n.359G>T (PHKA2)
ENST00000481718.1:n.2484G>T (PHKA2)
NM_000292.2:c.3590G>T (PHKA2)	NP_000283.1:p.Cys1197Phe
NR_029379.1:n.467+265C>A (PHKA2-AS1)
XM_005274548.3:c.3536G>T (PHKA2)	XP_005274605.1:p.Cys1179Phe
XM_005274550.3:c.3506G>T (PHKA2)	XP_005274607.1:p.Cys1169Phe
XM_006724496.2:c.3614G>T (PHKA2)	XP_006724559.1:p.Cys1205Phe
XM_006724498.2:c.3068G>T (PHKA2)	XP_006724561.1:p.Cys1023Phe
XM_011545537.1:c.3515G>T (PHKA2)	XP_011543839.1:p.Cys1172Phe
XM_011545538.1:c.2597G>T (PHKA2)	XP_011543840.1:p.Cys866Phe
XM_005274548.5:c.3536G>T (PHKA2)	XP_005274605.1:p.Cys1179Phe
XM_005274550.5:c.3506G>T (PHKA2)	XP_005274607.1:p.Cys1169Phe
XM_006724496.4:c.3614G>T (PHKA2)	XP_006724559.1:p.Cys1205Phe
XM_006724498.4:c.3068G>T (PHKA2)	XP_006724561.1:p.Cys1023Phe
XM_011545537.3:c.3515G>T (PHKA2)	XP_011543839.1:p.Cys1172Phe
XM_011545538.3:c.2597G>T (PHKA2)	XP_011543840.1:p.Cys866Phe
XM_017029580.2:c.2708G>T (PHKA2)	XP_016885069.1:p.Cys903Phe
XR_001755698.2:n.5718G>T (PHKA2)
NM_000292.3:c.3590G>T (PHKA2) MANE Select	NP_000283.1:p.Cys1197Phe