Canonical Allele Identifier: CA2695231376

Gene: PHKA2 PHKA2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893618_18893630dup , CM000685.2:g.18893618_18893630dup	GRCh38
NC_000023.10:g.18911736_18911748dup , CM000685.1:g.18911736_18911748dup	GRCh37
NC_000023.9:g.18821657_18821669dup	NCBI36
NG_016622.1:g.95733_95745dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3563_3575dup (PHKA2) MANE Select	ENSP00000369274.4:p.Gln1192HisfsTer15
ENST00000379942.4:c.3563_3575dup (PHKA2)	ENSP00000369274.4:p.Gln1192HisfsTer15
ENST00000469485.5:n.1288_1300dup (PHKA2)
ENST00000473597.1:n.332_344dup (PHKA2)
ENST00000481718.1:n.2457_2469dup (PHKA2)
NM_000292.2:c.3563_3575dup (PHKA2)	NP_000283.1:p.Gln1192HisfsTer15
NR_029379.1:n.467+280_467+292dup (PHKA2-AS1)
XM_005274548.3:c.3509_3521dup (PHKA2)	XP_005274605.1:p.Gln1174HisfsTer15
XM_005274550.3:c.3479_3491dup (PHKA2)	XP_005274607.1:p.Gln1164HisfsTer15
XM_006724496.2:c.3587_3599dup (PHKA2)	XP_006724559.1:p.Gln1200HisfsTer15
XM_006724498.2:c.3041_3053dup (PHKA2)	XP_006724561.1:p.Gln1018HisfsTer15
XM_011545537.1:c.3488_3500dup (PHKA2)	XP_011543839.1:p.Gln1167HisfsTer15
XM_011545538.1:c.2570_2582dup (PHKA2)	XP_011543840.1:p.Gln861HisfsTer15
XM_005274548.5:c.3509_3521dup (PHKA2)	XP_005274605.1:p.Gln1174HisfsTer15
XM_005274550.5:c.3479_3491dup (PHKA2)	XP_005274607.1:p.Gln1164HisfsTer15
XM_006724496.4:c.3587_3599dup (PHKA2)	XP_006724559.1:p.Gln1200HisfsTer15
XM_006724498.4:c.3041_3053dup (PHKA2)	XP_006724561.1:p.Gln1018HisfsTer15
XM_011545537.3:c.3488_3500dup (PHKA2)	XP_011543839.1:p.Gln1167HisfsTer15
XM_011545538.3:c.2570_2582dup (PHKA2)	XP_011543840.1:p.Gln861HisfsTer15
XM_017029580.2:c.2681_2693dup (PHKA2)	XP_016885069.1:p.Gln898HisfsTer15
XR_001755698.2:n.5691_5703dup (PHKA2)
NM_000292.3:c.3563_3575dup (PHKA2) MANE Select	NP_000283.1:p.Gln1192HisfsTer15