Canonical Allele Identifier: CA412376302

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18912522T>G (hg19) ; chrX:g.18894404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18894404T>G , CM000685.2:g.18894404T>G	GRCh38
NC_000023.10:g.18912522T>G , CM000685.1:g.18912522T>G	GRCh37
NC_000023.9:g.18822443T>G	NCBI36
NG_016622.1:g.94959A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.3337A>C (PHKA2) MANE Select	ENSP00000369274.4:p.Met1113Leu
ENST00000379942.4:c.3337A>C (PHKA2)	ENSP00000369274.4:p.Met1113Leu
ENST00000469485.5:n.1062A>C (PHKA2)
ENST00000473597.1:n.106A>C (PHKA2)
ENST00000473739.5:n.429A>C (PHKA2)
ENST00000481718.1:n.2231A>C (PHKA2)
NM_000292.2:c.3337A>C (PHKA2)	NP_000283.1:p.Met1113Leu
NR_029379.1:n.725T>G (PHKA2-AS1)
XM_005274548.3:c.3283A>C (PHKA2)	XP_005274605.1:p.Met1095Leu
XM_005274550.3:c.3253A>C (PHKA2)	XP_005274607.1:p.Met1085Leu
XM_006724496.2:c.3361A>C (PHKA2)	XP_006724559.1:p.Met1121Leu
XM_006724498.2:c.2815A>C (PHKA2)	XP_006724561.1:p.Met939Leu
XM_011545537.1:c.3262A>C (PHKA2)	XP_011543839.1:p.Met1088Leu
XM_011545538.1:c.2344A>C (PHKA2)	XP_011543840.1:p.Met782Leu
XM_005274548.5:c.3283A>C (PHKA2)	XP_005274605.1:p.Met1095Leu
XM_005274550.5:c.3253A>C (PHKA2)	XP_005274607.1:p.Met1085Leu
XM_006724496.4:c.3361A>C (PHKA2)	XP_006724559.1:p.Met1121Leu
XM_006724498.4:c.2815A>C (PHKA2)	XP_006724561.1:p.Met939Leu
XM_011545537.3:c.3262A>C (PHKA2)	XP_011543839.1:p.Met1088Leu
XM_011545538.3:c.2344A>C (PHKA2)	XP_011543840.1:p.Met782Leu
XM_017029580.2:c.2455A>C (PHKA2)	XP_016885069.1:p.Met819Leu
XR_001755698.2:n.5465A>C (PHKA2)
XR_002958777.1:n.3542A>C (PHKA2)
NM_000292.3:c.3337A>C (PHKA2) MANE Select	NP_000283.1:p.Met1113Leu