Canonical Allele Identifier: CA412375623
Community Standard Title: NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894317C>T , CM000685.2:g.18894317C>T GRCh38
NC_000023.10:g.18912435C>T , CM000685.1:g.18912435C>T GRCh37
NC_000023.9:g.18822356C>T NCBI36
NG_016622.1:g.95046G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3424G>A (PHKA2) MANE Select NP_000283.1:p.Glu1142Lys
ENST00000379942.5:c.3424G>A (PHKA2) MANE Select ENSP00000369274.4:p.Glu1142Lys
NM_000292.2:c.3424G>A (PHKA2) NP_000283.1:p.Glu1142Lys
NR_029379.1:n.638C>T (PHKA2-AS1)
ENST00000379942.4:c.3424G>A (PHKA2) ENSP00000369274.4:p.Glu1142Lys
ENST00000469485.5:n.1149G>A (PHKA2)
ENST00000473597.1:n.193G>A (PHKA2)
ENST00000473739.5:n.516G>A (PHKA2)
ENST00000481718.1:n.2318G>A (PHKA2)
XM_005274548.3:c.3370G>A (PHKA2) XP_005274605.1:p.Glu1124Lys
XM_005274548.5:c.3370G>A (PHKA2) XP_005274605.1:p.Glu1124Lys
XM_005274550.3:c.3340G>A (PHKA2) XP_005274607.1:p.Glu1114Lys
XM_005274550.5:c.3340G>A (PHKA2) XP_005274607.1:p.Glu1114Lys
XM_006724496.2:c.3448G>A (PHKA2) XP_006724559.1:p.Glu1150Lys
XM_006724496.4:c.3448G>A (PHKA2) XP_006724559.1:p.Glu1150Lys
XM_006724498.2:c.2902G>A (PHKA2) XP_006724561.1:p.Glu968Lys
XM_006724498.4:c.2902G>A (PHKA2) XP_006724561.1:p.Glu968Lys
XM_011545537.1:c.3349G>A (PHKA2) XP_011543839.1:p.Glu1117Lys
XM_011545537.3:c.3349G>A (PHKA2) XP_011543839.1:p.Glu1117Lys
XM_011545538.1:c.2431G>A (PHKA2) XP_011543840.1:p.Glu811Lys
XM_011545538.3:c.2431G>A (PHKA2) XP_011543840.1:p.Glu811Lys
XM_017029580.2:c.2542G>A (PHKA2) XP_016885069.1:p.Glu848Lys
XR_001755698.2:n.5552G>A (PHKA2)
XR_002958777.1:n.3629G>A (PHKA2)