Canonical Allele Identifier: CA412374639

Gene: PHKA2 PHKA2-AS1

Linked Data

• MyVariant Identifiers: chrX:g.18911756C>A (hg19) ; chrX:g.18893638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893638C>A , CM000685.2:g.18893638C>A	GRCh38
NC_000023.10:g.18911756C>A , CM000685.1:g.18911756C>A	GRCh37
NC_000023.9:g.18821677C>A	NCBI36
NG_016622.1:g.95725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3555G>T (PHKA2) MANE Select	ENSP00000369274.4:p.Met1185Ile
ENST00000379942.4:c.3555G>T (PHKA2)	ENSP00000369274.4:p.Met1185Ile
ENST00000469485.5:n.1280G>T (PHKA2)
ENST00000473597.1:n.324G>T (PHKA2)
ENST00000481718.1:n.2449G>T (PHKA2)
NM_000292.2:c.3555G>T (PHKA2)	NP_000283.1:p.Met1185Ile
NR_029379.1:n.467+300C>A (PHKA2-AS1)
XM_005274548.3:c.3501G>T (PHKA2)	XP_005274605.1:p.Met1167Ile
XM_005274550.3:c.3471G>T (PHKA2)	XP_005274607.1:p.Met1157Ile
XM_006724496.2:c.3579G>T (PHKA2)	XP_006724559.1:p.Met1193Ile
XM_006724498.2:c.3033G>T (PHKA2)	XP_006724561.1:p.Met1011Ile
XM_011545537.1:c.3480G>T (PHKA2)	XP_011543839.1:p.Met1160Ile
XM_011545538.1:c.2562G>T (PHKA2)	XP_011543840.1:p.Met854Ile
XM_005274548.5:c.3501G>T (PHKA2)	XP_005274605.1:p.Met1167Ile
XM_005274550.5:c.3471G>T (PHKA2)	XP_005274607.1:p.Met1157Ile
XM_006724496.4:c.3579G>T (PHKA2)	XP_006724559.1:p.Met1193Ile
XM_006724498.4:c.3033G>T (PHKA2)	XP_006724561.1:p.Met1011Ile
XM_011545537.3:c.3480G>T (PHKA2)	XP_011543839.1:p.Met1160Ile
XM_011545538.3:c.2562G>T (PHKA2)	XP_011543840.1:p.Met854Ile
XM_017029580.2:c.2673G>T (PHKA2)	XP_016885069.1:p.Met891Ile
XR_001755698.2:n.5683G>T (PHKA2)
NM_000292.3:c.3555G>T (PHKA2) MANE Select	NP_000283.1:p.Met1185Ile