Canonical Allele Identifier: CA515472677

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893593-A-G
• MyVariant Identifiers: chrX:g.18911711A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893593A>G , CM000685.2:g.18893593A>G	GRCh38
NC_000023.10:g.18911711A>G , CM000685.1:g.18911711A>G	GRCh37
NC_000023.9:g.18821632A>G	NCBI36
NG_016622.1:g.95770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3600T>C (PHKA2) MANE Select	ENSP00000369274.4:p.Phe1200=
ENST00000379942.4:c.3600T>C (PHKA2)	ENSP00000369274.4:p.Phe1200=
ENST00000469485.5:n.1325T>C (PHKA2)
ENST00000473597.1:n.369T>C (PHKA2)
ENST00000481718.1:n.2494T>C (PHKA2)
NM_000292.2:c.3600T>C (PHKA2)	NP_000283.1:p.Phe1200=
NR_029379.1:n.467+255A>G (PHKA2-AS1)
XM_005274548.3:c.3546T>C (PHKA2)	XP_005274605.1:p.Phe1182=
XM_005274550.3:c.3516T>C (PHKA2)	XP_005274607.1:p.Phe1172=
XM_006724496.2:c.3624T>C (PHKA2)	XP_006724559.1:p.Phe1208=
XM_006724498.2:c.3078T>C (PHKA2)	XP_006724561.1:p.Phe1026=
XM_011545537.1:c.3525T>C (PHKA2)	XP_011543839.1:p.Phe1175=
XM_011545538.1:c.2607T>C (PHKA2)	XP_011543840.1:p.Phe869=
XM_005274548.5:c.3546T>C (PHKA2)	XP_005274605.1:p.Phe1182=
XM_005274550.5:c.3516T>C (PHKA2)	XP_005274607.1:p.Phe1172=
XM_006724496.4:c.3624T>C (PHKA2)	XP_006724559.1:p.Phe1208=
XM_006724498.4:c.3078T>C (PHKA2)	XP_006724561.1:p.Phe1026=
XM_011545537.3:c.3525T>C (PHKA2)	XP_011543839.1:p.Phe1175=
XM_011545538.3:c.2607T>C (PHKA2)	XP_011543840.1:p.Phe869=
XM_017029580.2:c.2718T>C (PHKA2)	XP_016885069.1:p.Phe906=
XR_001755698.2:n.5728T>C (PHKA2)
NM_000292.3:c.3600T>C (PHKA2) MANE Select	NP_000283.1:p.Phe1200=