Canonical Allele Identifier: CA412374631

Gene: PHKA2 PHKA2-AS1

Linked Data

• ClinVar Variation Id: 2664022
• ClinVar RCV Id: RCV003444484
• gnomAD v4: X-18893636-T-G
• MyVariant Identifiers: chrX:g.18911754T>G (hg19) ; chrX:g.18893636T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893636T>G , CM000685.2:g.18893636T>G	GRCh38
NC_000023.10:g.18911754T>G , CM000685.1:g.18911754T>G	GRCh37
NC_000023.9:g.18821675T>G	NCBI36
NG_016622.1:g.95727A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3557A>C (PHKA2) MANE Select	ENSP00000369274.4:p.Asp1186Ala
ENST00000379942.4:c.3557A>C (PHKA2)	ENSP00000369274.4:p.Asp1186Ala
ENST00000469485.5:n.1282A>C (PHKA2)
ENST00000473597.1:n.326A>C (PHKA2)
ENST00000481718.1:n.2451A>C (PHKA2)
NM_000292.2:c.3557A>C (PHKA2)	NP_000283.1:p.Asp1186Ala
NR_029379.1:n.467+298T>G (PHKA2-AS1)
XM_005274548.3:c.3503A>C (PHKA2)	XP_005274605.1:p.Asp1168Ala
XM_005274550.3:c.3473A>C (PHKA2)	XP_005274607.1:p.Asp1158Ala
XM_006724496.2:c.3581A>C (PHKA2)	XP_006724559.1:p.Asp1194Ala
XM_006724498.2:c.3035A>C (PHKA2)	XP_006724561.1:p.Asp1012Ala
XM_011545537.1:c.3482A>C (PHKA2)	XP_011543839.1:p.Asp1161Ala
XM_011545538.1:c.2564A>C (PHKA2)	XP_011543840.1:p.Asp855Ala
XM_005274548.5:c.3503A>C (PHKA2)	XP_005274605.1:p.Asp1168Ala
XM_005274550.5:c.3473A>C (PHKA2)	XP_005274607.1:p.Asp1158Ala
XM_006724496.4:c.3581A>C (PHKA2)	XP_006724559.1:p.Asp1194Ala
XM_006724498.4:c.3035A>C (PHKA2)	XP_006724561.1:p.Asp1012Ala
XM_011545537.3:c.3482A>C (PHKA2)	XP_011543839.1:p.Asp1161Ala
XM_011545538.3:c.2564A>C (PHKA2)	XP_011543840.1:p.Asp855Ala
XM_017029580.2:c.2675A>C (PHKA2)	XP_016885069.1:p.Asp892Ala
XR_001755698.2:n.5685A>C (PHKA2)
NM_000292.3:c.3557A>C (PHKA2) MANE Select	NP_000283.1:p.Asp1186Ala