Canonical Allele Identifier: CA640514149

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs1389288272
• gnomAD v2: X-18912529-A-C
• gnomAD v4: X-18894411-A-C
• MyVariant Identifiers: chrX:g.18912529A>C (hg19) ; chrX:g.18894411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18894411A>C , CM000685.2:g.18894411A>C	GRCh38
NC_000023.10:g.18912529A>C , CM000685.1:g.18912529A>C	GRCh37
NC_000023.9:g.18822450A>C	NCBI36
NG_016622.1:g.94952T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.3337-7T>G (PHKA2) MANE Select	ENSP00000369274.4:n.3337-7T>G
ENST00000379942.4:c.3337-7T>G (PHKA2)	ENSP00000369274.4:n.3337-7T>G
ENST00000469485.5:n.1062-7T>G (PHKA2)
ENST00000473597.1:n.106-7T>G (PHKA2)
ENST00000473739.5:n.429-7T>G (PHKA2)
ENST00000481718.1:n.2224T>G (PHKA2)
NM_000292.2:c.3337-7T>G (PHKA2)	NP_000283.1:n.3337-7T>G
NR_029379.1:n.732A>C (PHKA2-AS1)
XM_005274548.3:c.3283-7T>G (PHKA2)	XP_005274605.1:n.3283-7T>G
XM_005274550.3:c.3253-7T>G (PHKA2)	XP_005274607.1:n.3253-7T>G
XM_006724496.2:c.3361-7T>G (PHKA2)	XP_006724559.1:n.3361-7T>G
XM_006724498.2:c.2815-7T>G (PHKA2)	XP_006724561.1:n.2815-7T>G
XM_011545537.1:c.3262-7T>G (PHKA2)	XP_011543839.1:n.3262-7T>G
XM_011545538.1:c.2344-7T>G (PHKA2)	XP_011543840.1:n.2344-7T>G
XM_005274548.5:c.3283-7T>G (PHKA2)	XP_005274605.1:n.3283-7T>G
XM_005274550.5:c.3253-7T>G (PHKA2)	XP_005274607.1:n.3253-7T>G
XM_006724496.4:c.3361-7T>G (PHKA2)	XP_006724559.1:n.3361-7T>G
XM_006724498.4:c.2815-7T>G (PHKA2)	XP_006724561.1:n.2815-7T>G
XM_011545537.3:c.3262-7T>G (PHKA2)	XP_011543839.1:n.3262-7T>G
XM_011545538.3:c.2344-7T>G (PHKA2)	XP_011543840.1:n.2344-7T>G
XM_017029580.2:c.2455-7T>G (PHKA2)	XP_016885069.1:n.2455-7T>G
XR_001755698.2:n.5465-7T>G (PHKA2)
XR_002958777.1:n.3542-7T>G (PHKA2)
NM_000292.3:c.3337-7T>G (PHKA2) MANE Select	NP_000283.1:n.3337-7T>G