Canonical Allele Identifier: CA412374402

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893584-G-T
• COSMIC: COSM3844251
• MyVariant Identifiers: chrX:g.18911702G>T (hg19) ; chrX:g.18893584G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893584G>T , CM000685.2:g.18893584G>T	GRCh38
NC_000023.10:g.18911702G>T , CM000685.1:g.18911702G>T	GRCh37
NC_000023.9:g.18821623G>T	NCBI36
NG_016622.1:g.95779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3609C>A (PHKA2) MANE Select	ENSP00000369274.4:p.Ser1203Arg
ENST00000379942.4:c.3609C>A (PHKA2)	ENSP00000369274.4:p.Ser1203Arg
ENST00000469485.5:n.1334C>A (PHKA2)
ENST00000473597.1:n.378C>A (PHKA2)
ENST00000481718.1:n.2503C>A (PHKA2)
NM_000292.2:c.3609C>A (PHKA2)	NP_000283.1:p.Ser1203Arg
NR_029379.1:n.467+246G>T (PHKA2-AS1)
XM_005274548.3:c.3555C>A (PHKA2)	XP_005274605.1:p.Ser1185Arg
XM_005274550.3:c.3525C>A (PHKA2)	XP_005274607.1:p.Ser1175Arg
XM_006724496.2:c.3633C>A (PHKA2)	XP_006724559.1:p.Ser1211Arg
XM_006724498.2:c.3087C>A (PHKA2)	XP_006724561.1:p.Ser1029Arg
XM_011545537.1:c.3534C>A (PHKA2)	XP_011543839.1:p.Ser1178Arg
XM_011545538.1:c.2616C>A (PHKA2)	XP_011543840.1:p.Ser872Arg
XM_005274548.5:c.3555C>A (PHKA2)	XP_005274605.1:p.Ser1185Arg
XM_005274550.5:c.3525C>A (PHKA2)	XP_005274607.1:p.Ser1175Arg
XM_006724496.4:c.3633C>A (PHKA2)	XP_006724559.1:p.Ser1211Arg
XM_006724498.4:c.3087C>A (PHKA2)	XP_006724561.1:p.Ser1029Arg
XM_011545537.3:c.3534C>A (PHKA2)	XP_011543839.1:p.Ser1178Arg
XM_011545538.3:c.2616C>A (PHKA2)	XP_011543840.1:p.Ser872Arg
XM_017029580.2:c.2727C>A (PHKA2)	XP_016885069.1:p.Ser909Arg
XR_001755698.2:n.5737C>A (PHKA2)
NM_000292.3:c.3609C>A (PHKA2) MANE Select	NP_000283.1:p.Ser1203Arg