Canonical Allele Identifier: CA412374733

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911773C>G (hg19) ; chrX:g.18893655C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893655C>G , CM000685.2:g.18893655C>G	GRCh38
NC_000023.10:g.18911773C>G , CM000685.1:g.18911773C>G	GRCh37
NC_000023.9:g.18821694C>G	NCBI36
NG_016622.1:g.95708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3538G>C (PHKA2) MANE Select	ENSP00000369274.4:p.Val1180Leu
ENST00000379942.4:c.3538G>C (PHKA2)	ENSP00000369274.4:p.Val1180Leu
ENST00000469485.5:n.1263G>C (PHKA2)
ENST00000473597.1:n.307G>C (PHKA2)
ENST00000481718.1:n.2432G>C (PHKA2)
NM_000292.2:c.3538G>C (PHKA2)	NP_000283.1:p.Val1180Leu
NR_029379.1:n.467+317C>G (PHKA2-AS1)
XM_005274548.3:c.3484G>C (PHKA2)	XP_005274605.1:p.Val1162Leu
XM_005274550.3:c.3454G>C (PHKA2)	XP_005274607.1:p.Val1152Leu
XM_006724496.2:c.3562G>C (PHKA2)	XP_006724559.1:p.Val1188Leu
XM_006724498.2:c.3016G>C (PHKA2)	XP_006724561.1:p.Val1006Leu
XM_011545537.1:c.3463G>C (PHKA2)	XP_011543839.1:p.Val1155Leu
XM_011545538.1:c.2545G>C (PHKA2)	XP_011543840.1:p.Val849Leu
XM_005274548.5:c.3484G>C (PHKA2)	XP_005274605.1:p.Val1162Leu
XM_005274550.5:c.3454G>C (PHKA2)	XP_005274607.1:p.Val1152Leu
XM_006724496.4:c.3562G>C (PHKA2)	XP_006724559.1:p.Val1188Leu
XM_006724498.4:c.3016G>C (PHKA2)	XP_006724561.1:p.Val1006Leu
XM_011545537.3:c.3463G>C (PHKA2)	XP_011543839.1:p.Val1155Leu
XM_011545538.3:c.2545G>C (PHKA2)	XP_011543840.1:p.Val849Leu
XM_017029580.2:c.2656G>C (PHKA2)	XP_016885069.1:p.Val886Leu
XR_001755698.2:n.5666G>C (PHKA2)
NM_000292.3:c.3538G>C (PHKA2) MANE Select	NP_000283.1:p.Val1180Leu