Canonical Allele Identifier: CA255291

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18897299G>T , CM000685.2:g.18897299G>T	GRCh38
NC_000023.10:g.18915417G>T , CM000685.1:g.18915417G>T	GRCh37
NC_000023.9:g.18825338G>T	NCBI36
NG_016622.1:g.92064C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.3146C>A MANE Select	NP_000283.1:p.Ser1049Ter
ENST00000379942.5:c.3146C>A MANE Select	ENSP00000369274.4:p.Ser1049Ter
NM_000292.2:c.3146C>A	NP_000283.1:p.Ser1049Ter
ENST00000379942.4:c.3146C>A	ENSP00000369274.4:p.Ser1049Ter
ENST00000469485.5:n.871C>A
ENST00000469645.5:n.546C>A
ENST00000473739.5:n.238C>A
XM_005274548.3:c.3092C>A	XP_005274605.1:p.Ser1031Ter
XM_005274548.5:c.3092C>A	XP_005274605.1:p.Ser1031Ter
XM_005274550.3:c.3062C>A	XP_005274607.1:p.Ser1021Ter
XM_005274550.5:c.3062C>A	XP_005274607.1:p.Ser1021Ter
XM_006724496.2:c.3170C>A	XP_006724559.1:p.Ser1057Ter
XM_006724496.4:c.3170C>A	XP_006724559.1:p.Ser1057Ter
XM_006724498.2:c.2624C>A	XP_006724561.1:p.Ser875Ter
XM_006724498.4:c.2624C>A	XP_006724561.1:p.Ser875Ter
XM_011545537.1:c.3071C>A	XP_011543839.1:p.Ser1024Ter
XM_011545537.3:c.3071C>A	XP_011543839.1:p.Ser1024Ter
XM_011545538.1:c.2153C>A	XP_011543840.1:p.Ser718Ter
XM_011545538.3:c.2153C>A	XP_011543840.1:p.Ser718Ter
XM_017029580.2:c.2264C>A	XP_016885069.1:p.Ser755Ter
XR_001755698.2:n.5274C>A
XR_002958777.1:n.3351C>A
XR_950461.1:n.4679C>A
XR_950461.3:n.4665C>A