Canonical Allele Identifier: CA412374572

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911740C>G (hg19) ; chrX:g.18893622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893622C>G , CM000685.2:g.18893622C>G	GRCh38
NC_000023.10:g.18911740C>G , CM000685.1:g.18911740C>G	GRCh37
NC_000023.9:g.18821661C>G	NCBI36
NG_016622.1:g.95741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3571G>C (PHKA2) MANE Select	ENSP00000369274.4:p.Asp1191His
ENST00000379942.4:c.3571G>C (PHKA2)	ENSP00000369274.4:p.Asp1191His
ENST00000469485.5:n.1296G>C (PHKA2)
ENST00000473597.1:n.340G>C (PHKA2)
ENST00000481718.1:n.2465G>C (PHKA2)
NM_000292.2:c.3571G>C (PHKA2)	NP_000283.1:p.Asp1191His
NR_029379.1:n.467+284C>G (PHKA2-AS1)
XM_005274548.3:c.3517G>C (PHKA2)	XP_005274605.1:p.Asp1173His
XM_005274550.3:c.3487G>C (PHKA2)	XP_005274607.1:p.Asp1163His
XM_006724496.2:c.3595G>C (PHKA2)	XP_006724559.1:p.Asp1199His
XM_006724498.2:c.3049G>C (PHKA2)	XP_006724561.1:p.Asp1017His
XM_011545537.1:c.3496G>C (PHKA2)	XP_011543839.1:p.Asp1166His
XM_011545538.1:c.2578G>C (PHKA2)	XP_011543840.1:p.Asp860His
XM_005274548.5:c.3517G>C (PHKA2)	XP_005274605.1:p.Asp1173His
XM_005274550.5:c.3487G>C (PHKA2)	XP_005274607.1:p.Asp1163His
XM_006724496.4:c.3595G>C (PHKA2)	XP_006724559.1:p.Asp1199His
XM_006724498.4:c.3049G>C (PHKA2)	XP_006724561.1:p.Asp1017His
XM_011545537.3:c.3496G>C (PHKA2)	XP_011543839.1:p.Asp1166His
XM_011545538.3:c.2578G>C (PHKA2)	XP_011543840.1:p.Asp860His
XM_017029580.2:c.2689G>C (PHKA2)	XP_016885069.1:p.Asp897His
XR_001755698.2:n.5699G>C (PHKA2)
NM_000292.3:c.3571G>C (PHKA2) MANE Select	NP_000283.1:p.Asp1191His