Canonical Allele Identifier: CA2418074976
Community Standard Title: NM_000292.3(PHKA2):c.3025C= (p.Gln1009=)
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18901487G= , CM000685.2:g.18901487G= GRCh38
NC_000023.10:g.18919605G= , CM000685.1:g.18919605G= GRCh37
NC_000023.9:g.18829526G= NCBI36
NG_016622.1:g.87876C=

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3025C= MANE Select NP_000283.1:p.Gln1009=
ENST00000379942.5:c.3025C= MANE Select ENSP00000369274.4:p.Gln1009=
NM_000292.2:c.3025C= NP_000283.1:p.Gln1009=
ENST00000379942.4:c.3025C= ENSP00000369274.4:p.Gln1009=
ENST00000469645.5:n.509C=
ENST00000473739.5:n.117C=
ENST00000486231.2:n.294C=
XM_005274548.3:c.3025C= XP_005274605.1:p.Gln1009=
XM_005274548.5:c.3025C= XP_005274605.1:p.Gln1009=
XM_005274550.3:c.3025C= XP_005274607.1:p.Gln1009=
XM_005274550.5:c.3025C= XP_005274607.1:p.Gln1009=
XM_006724496.2:c.3025C= XP_006724559.1:p.Gln1009=
XM_006724496.4:c.3025C= XP_006724559.1:p.Gln1009=
XM_006724498.2:c.2479C= XP_006724561.1:p.Gln827=
XM_006724498.4:c.2479C= XP_006724561.1:p.Gln827=
XM_011545537.1:c.2926C= XP_011543839.1:p.Gln976=
XM_011545537.3:c.2926C= XP_011543839.1:p.Gln976=
XM_011545538.1:c.2008C= XP_011543840.1:p.Gln670=
XM_011545538.3:c.2008C= XP_011543840.1:p.Gln670=
XM_017029580.2:c.2119C= XP_016885069.1:p.Gln707=
XR_001755697.2:n.3195C=
XR_001755698.2:n.3314C=
XR_002958777.1:n.3314C=
XR_950461.1:n.3209C=
XR_950461.3:n.3195C=