Canonical Allele Identifier: CA412374674

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs1204416957
• gnomAD v2: X-18911763-C-T
• gnomAD v4: X-18893645-C-T
• MyVariant Identifiers: chrX:g.18911763C>T (hg19) ; chrX:g.18893645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893645C>T , CM000685.2:g.18893645C>T	GRCh38
NC_000023.10:g.18911763C>T , CM000685.1:g.18911763C>T	GRCh37
NC_000023.9:g.18821684C>T	NCBI36
NG_016622.1:g.95718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3548G>A (PHKA2) MANE Select	ENSP00000369274.4:p.Gly1183Asp
ENST00000379942.4:c.3548G>A (PHKA2)	ENSP00000369274.4:p.Gly1183Asp
ENST00000469485.5:n.1273G>A (PHKA2)
ENST00000473597.1:n.317G>A (PHKA2)
ENST00000481718.1:n.2442G>A (PHKA2)
NM_000292.2:c.3548G>A (PHKA2)	NP_000283.1:p.Gly1183Asp
NR_029379.1:n.467+307C>T (PHKA2-AS1)
XM_005274548.3:c.3494G>A (PHKA2)	XP_005274605.1:p.Gly1165Asp
XM_005274550.3:c.3464G>A (PHKA2)	XP_005274607.1:p.Gly1155Asp
XM_006724496.2:c.3572G>A (PHKA2)	XP_006724559.1:p.Gly1191Asp
XM_006724498.2:c.3026G>A (PHKA2)	XP_006724561.1:p.Gly1009Asp
XM_011545537.1:c.3473G>A (PHKA2)	XP_011543839.1:p.Gly1158Asp
XM_011545538.1:c.2555G>A (PHKA2)	XP_011543840.1:p.Gly852Asp
XM_005274548.5:c.3494G>A (PHKA2)	XP_005274605.1:p.Gly1165Asp
XM_005274550.5:c.3464G>A (PHKA2)	XP_005274607.1:p.Gly1155Asp
XM_006724496.4:c.3572G>A (PHKA2)	XP_006724559.1:p.Gly1191Asp
XM_006724498.4:c.3026G>A (PHKA2)	XP_006724561.1:p.Gly1009Asp
XM_011545537.3:c.3473G>A (PHKA2)	XP_011543839.1:p.Gly1158Asp
XM_011545538.3:c.2555G>A (PHKA2)	XP_011543840.1:p.Gly852Asp
XM_017029580.2:c.2666G>A (PHKA2)	XP_016885069.1:p.Gly889Asp
XR_001755698.2:n.5676G>A (PHKA2)
NM_000292.3:c.3548G>A (PHKA2) MANE Select	NP_000283.1:p.Gly1183Asp