Canonical Allele Identifier: CA412374569

Gene: PHKA2 PHKA2-AS1

Linked Data

• gnomAD v4: X-18893621-T-C
• MyVariant Identifiers: chrX:g.18911739T>C (hg19) ; chrX:g.18893621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893621T>C , CM000685.2:g.18893621T>C	GRCh38
NC_000023.10:g.18911739T>C , CM000685.1:g.18911739T>C	GRCh37
NC_000023.9:g.18821660T>C	NCBI36
NG_016622.1:g.95742A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3572A>G (PHKA2) MANE Select	ENSP00000369274.4:p.Asp1191Gly
ENST00000379942.4:c.3572A>G (PHKA2)	ENSP00000369274.4:p.Asp1191Gly
ENST00000469485.5:n.1297A>G (PHKA2)
ENST00000473597.1:n.341A>G (PHKA2)
ENST00000481718.1:n.2466A>G (PHKA2)
NM_000292.2:c.3572A>G (PHKA2)	NP_000283.1:p.Asp1191Gly
NR_029379.1:n.467+283T>C (PHKA2-AS1)
XM_005274548.3:c.3518A>G (PHKA2)	XP_005274605.1:p.Asp1173Gly
XM_005274550.3:c.3488A>G (PHKA2)	XP_005274607.1:p.Asp1163Gly
XM_006724496.2:c.3596A>G (PHKA2)	XP_006724559.1:p.Asp1199Gly
XM_006724498.2:c.3050A>G (PHKA2)	XP_006724561.1:p.Asp1017Gly
XM_011545537.1:c.3497A>G (PHKA2)	XP_011543839.1:p.Asp1166Gly
XM_011545538.1:c.2579A>G (PHKA2)	XP_011543840.1:p.Asp860Gly
XM_005274548.5:c.3518A>G (PHKA2)	XP_005274605.1:p.Asp1173Gly
XM_005274550.5:c.3488A>G (PHKA2)	XP_005274607.1:p.Asp1163Gly
XM_006724496.4:c.3596A>G (PHKA2)	XP_006724559.1:p.Asp1199Gly
XM_006724498.4:c.3050A>G (PHKA2)	XP_006724561.1:p.Asp1017Gly
XM_011545537.3:c.3497A>G (PHKA2)	XP_011543839.1:p.Asp1166Gly
XM_011545538.3:c.2579A>G (PHKA2)	XP_011543840.1:p.Asp860Gly
XM_017029580.2:c.2690A>G (PHKA2)	XP_016885069.1:p.Asp897Gly
XR_001755698.2:n.5700A>G (PHKA2)
NM_000292.3:c.3572A>G (PHKA2) MANE Select	NP_000283.1:p.Asp1191Gly