Canonical Allele Identifier: CA2693234123

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893610-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893611del , CM000685.2:g.18893611del	GRCh38
NC_000023.10:g.18911729del , CM000685.1:g.18911729del	GRCh37
NC_000023.9:g.18821650del	NCBI36
NG_016622.1:g.95752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3582del (PHKA2) MANE Select	ENSP00000369274.4:p.Gly1195GlufsTer18
ENST00000379942.4:c.3582del (PHKA2)	ENSP00000369274.4:p.Gly1195GlufsTer18
ENST00000469485.5:n.1307del (PHKA2)
ENST00000473597.1:n.351del (PHKA2)
ENST00000481718.1:n.2476del (PHKA2)
NM_000292.2:c.3582del (PHKA2)	NP_000283.1:p.Gly1195GlufsTer18
NR_029379.1:n.467+273del (PHKA2-AS1)
XM_005274548.3:c.3528del (PHKA2)	XP_005274605.1:p.Gly1177GlufsTer18
XM_005274550.3:c.3498del (PHKA2)	XP_005274607.1:p.Gly1167GlufsTer18
XM_006724496.2:c.3606del (PHKA2)	XP_006724559.1:p.Gly1203GlufsTer18
XM_006724498.2:c.3060del (PHKA2)	XP_006724561.1:p.Gly1021GlufsTer18
XM_011545537.1:c.3507del (PHKA2)	XP_011543839.1:p.Gly1170GlufsTer18
XM_011545538.1:c.2589del (PHKA2)	XP_011543840.1:p.Gly864GlufsTer18
XM_005274548.5:c.3528del (PHKA2)	XP_005274605.1:p.Gly1177GlufsTer18
XM_005274550.5:c.3498del (PHKA2)	XP_005274607.1:p.Gly1167GlufsTer18
XM_006724496.4:c.3606del (PHKA2)	XP_006724559.1:p.Gly1203GlufsTer18
XM_006724498.4:c.3060del (PHKA2)	XP_006724561.1:p.Gly1021GlufsTer18
XM_011545537.3:c.3507del (PHKA2)	XP_011543839.1:p.Gly1170GlufsTer18
XM_011545538.3:c.2589del (PHKA2)	XP_011543840.1:p.Gly864GlufsTer18
XM_017029580.2:c.2700del (PHKA2)	XP_016885069.1:p.Gly901GlufsTer18
XR_001755698.2:n.5710del (PHKA2)
NM_000292.3:c.3582del (PHKA2) MANE Select	NP_000283.1:p.Gly1195GlufsTer18