Canonical Allele Identifier: CA10361321

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs749043832
• ExAC: X:18912526 C / T
• gnomAD v2: X-18912526-C-T
• gnomAD v4: X-18894408-C-T
• MyVariant Identifiers: chrX:g.18912526C>T (hg19) ; chrX:g.18894408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18894408C>T , CM000685.2:g.18894408C>T	GRCh38
NC_000023.10:g.18912526C>T , CM000685.1:g.18912526C>T	GRCh37
NC_000023.9:g.18822447C>T	NCBI36
NG_016622.1:g.94955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3337-4G>A (PHKA2) MANE Select	ENSP00000369274.4:n.3337-4G>A
ENST00000379942.4:c.3337-4G>A (PHKA2)	ENSP00000369274.4:n.3337-4G>A
ENST00000469485.5:n.1062-4G>A (PHKA2)
ENST00000473597.1:n.106-4G>A (PHKA2)
ENST00000473739.5:n.429-4G>A (PHKA2)
ENST00000481718.1:n.2227G>A (PHKA2)
NM_000292.2:c.3337-4G>A (PHKA2)	NP_000283.1:n.3337-4G>A
NR_029379.1:n.729C>T (PHKA2-AS1)
XM_005274548.3:c.3283-4G>A (PHKA2)	XP_005274605.1:n.3283-4G>A
XM_005274550.3:c.3253-4G>A (PHKA2)	XP_005274607.1:n.3253-4G>A
XM_006724496.2:c.3361-4G>A (PHKA2)	XP_006724559.1:n.3361-4G>A
XM_006724498.2:c.2815-4G>A (PHKA2)	XP_006724561.1:n.2815-4G>A
XM_011545537.1:c.3262-4G>A (PHKA2)	XP_011543839.1:n.3262-4G>A
XM_011545538.1:c.2344-4G>A (PHKA2)	XP_011543840.1:n.2344-4G>A
XM_005274548.5:c.3283-4G>A (PHKA2)	XP_005274605.1:n.3283-4G>A
XM_005274550.5:c.3253-4G>A (PHKA2)	XP_005274607.1:n.3253-4G>A
XM_006724496.4:c.3361-4G>A (PHKA2)	XP_006724559.1:n.3361-4G>A
XM_006724498.4:c.2815-4G>A (PHKA2)	XP_006724561.1:n.2815-4G>A
XM_011545537.3:c.3262-4G>A (PHKA2)	XP_011543839.1:n.3262-4G>A
XM_011545538.3:c.2344-4G>A (PHKA2)	XP_011543840.1:n.2344-4G>A
XM_017029580.2:c.2455-4G>A (PHKA2)	XP_016885069.1:n.2455-4G>A
XR_001755698.2:n.5465-4G>A (PHKA2)
XR_002958777.1:n.3542-4G>A (PHKA2)
NM_000292.3:c.3337-4G>A (PHKA2) MANE Select	NP_000283.1:n.3337-4G>A