Canonical Allele Identifier: CA412374720

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911772A>G (hg19) ; chrX:g.18893654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893654A>G , CM000685.2:g.18893654A>G	GRCh38
NC_000023.10:g.18911772A>G , CM000685.1:g.18911772A>G	GRCh37
NC_000023.9:g.18821693A>G	NCBI36
NG_016622.1:g.95709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3539T>C (PHKA2) MANE Select	ENSP00000369274.4:p.Val1180Ala
ENST00000379942.4:c.3539T>C (PHKA2)	ENSP00000369274.4:p.Val1180Ala
ENST00000469485.5:n.1264T>C (PHKA2)
ENST00000473597.1:n.308T>C (PHKA2)
ENST00000481718.1:n.2433T>C (PHKA2)
NM_000292.2:c.3539T>C (PHKA2)	NP_000283.1:p.Val1180Ala
NR_029379.1:n.467+316A>G (PHKA2-AS1)
XM_005274548.3:c.3485T>C (PHKA2)	XP_005274605.1:p.Val1162Ala
XM_005274550.3:c.3455T>C (PHKA2)	XP_005274607.1:p.Val1152Ala
XM_006724496.2:c.3563T>C (PHKA2)	XP_006724559.1:p.Val1188Ala
XM_006724498.2:c.3017T>C (PHKA2)	XP_006724561.1:p.Val1006Ala
XM_011545537.1:c.3464T>C (PHKA2)	XP_011543839.1:p.Val1155Ala
XM_011545538.1:c.2546T>C (PHKA2)	XP_011543840.1:p.Val849Ala
XM_005274548.5:c.3485T>C (PHKA2)	XP_005274605.1:p.Val1162Ala
XM_005274550.5:c.3455T>C (PHKA2)	XP_005274607.1:p.Val1152Ala
XM_006724496.4:c.3563T>C (PHKA2)	XP_006724559.1:p.Val1188Ala
XM_006724498.4:c.3017T>C (PHKA2)	XP_006724561.1:p.Val1006Ala
XM_011545537.3:c.3464T>C (PHKA2)	XP_011543839.1:p.Val1155Ala
XM_011545538.3:c.2546T>C (PHKA2)	XP_011543840.1:p.Val849Ala
XM_017029580.2:c.2657T>C (PHKA2)	XP_016885069.1:p.Val886Ala
XR_001755698.2:n.5667T>C (PHKA2)
NM_000292.3:c.3539T>C (PHKA2) MANE Select	NP_000283.1:p.Val1180Ala