Canonical Allele Identifier: CA412374651

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs1348425357
• gnomAD v2: X-18911757-A-C
• gnomAD v4: X-18893639-A-C
• MyVariant Identifiers: chrX:g.18911757A>C (hg19) ; chrX:g.18893639A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893639A>C , CM000685.2:g.18893639A>C	GRCh38
NC_000023.10:g.18911757A>C , CM000685.1:g.18911757A>C	GRCh37
NC_000023.9:g.18821678A>C	NCBI36
NG_016622.1:g.95724T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3554T>G (PHKA2) MANE Select	ENSP00000369274.4:p.Met1185Arg
ENST00000379942.4:c.3554T>G (PHKA2)	ENSP00000369274.4:p.Met1185Arg
ENST00000469485.5:n.1279T>G (PHKA2)
ENST00000473597.1:n.323T>G (PHKA2)
ENST00000481718.1:n.2448T>G (PHKA2)
NM_000292.2:c.3554T>G (PHKA2)	NP_000283.1:p.Met1185Arg
NR_029379.1:n.467+301A>C (PHKA2-AS1)
XM_005274548.3:c.3500T>G (PHKA2)	XP_005274605.1:p.Met1167Arg
XM_005274550.3:c.3470T>G (PHKA2)	XP_005274607.1:p.Met1157Arg
XM_006724496.2:c.3578T>G (PHKA2)	XP_006724559.1:p.Met1193Arg
XM_006724498.2:c.3032T>G (PHKA2)	XP_006724561.1:p.Met1011Arg
XM_011545537.1:c.3479T>G (PHKA2)	XP_011543839.1:p.Met1160Arg
XM_011545538.1:c.2561T>G (PHKA2)	XP_011543840.1:p.Met854Arg
XM_005274548.5:c.3500T>G (PHKA2)	XP_005274605.1:p.Met1167Arg
XM_005274550.5:c.3470T>G (PHKA2)	XP_005274607.1:p.Met1157Arg
XM_006724496.4:c.3578T>G (PHKA2)	XP_006724559.1:p.Met1193Arg
XM_006724498.4:c.3032T>G (PHKA2)	XP_006724561.1:p.Met1011Arg
XM_011545537.3:c.3479T>G (PHKA2)	XP_011543839.1:p.Met1160Arg
XM_011545538.3:c.2561T>G (PHKA2)	XP_011543840.1:p.Met854Arg
XM_017029580.2:c.2672T>G (PHKA2)	XP_016885069.1:p.Met891Arg
XR_001755698.2:n.5682T>G (PHKA2)
NM_000292.3:c.3554T>G (PHKA2) MANE Select	NP_000283.1:p.Met1185Arg