Canonical Allele Identifier: CA412375696
Community Standard Title: NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894332G>A , CM000685.2:g.18894332G>A GRCh38
NC_000023.10:g.18912450G>A , CM000685.1:g.18912450G>A GRCh37
NC_000023.9:g.18822371G>A NCBI36
NG_016622.1:g.95031C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3409C>T (PHKA2) MANE Select NP_000283.1:p.Arg1137Trp
ENST00000379942.5:c.3409C>T (PHKA2) MANE Select ENSP00000369274.4:p.Arg1137Trp
NM_000292.2:c.3409C>T (PHKA2) NP_000283.1:p.Arg1137Trp
NR_029379.1:n.653G>A (PHKA2-AS1)
ENST00000379942.4:c.3409C>T (PHKA2) ENSP00000369274.4:p.Arg1137Trp
ENST00000469485.5:n.1134C>T (PHKA2)
ENST00000473597.1:n.178C>T (PHKA2)
ENST00000473739.5:n.501C>T (PHKA2)
ENST00000481718.1:n.2303C>T (PHKA2)
XM_005274548.3:c.3355C>T (PHKA2) XP_005274605.1:p.Arg1119Trp
XM_005274548.5:c.3355C>T (PHKA2) XP_005274605.1:p.Arg1119Trp
XM_005274550.3:c.3325C>T (PHKA2) XP_005274607.1:p.Arg1109Trp
XM_005274550.5:c.3325C>T (PHKA2) XP_005274607.1:p.Arg1109Trp
XM_006724496.2:c.3433C>T (PHKA2) XP_006724559.1:p.Arg1145Trp
XM_006724496.4:c.3433C>T (PHKA2) XP_006724559.1:p.Arg1145Trp
XM_006724498.2:c.2887C>T (PHKA2) XP_006724561.1:p.Arg963Trp
XM_006724498.4:c.2887C>T (PHKA2) XP_006724561.1:p.Arg963Trp
XM_011545537.1:c.3334C>T (PHKA2) XP_011543839.1:p.Arg1112Trp
XM_011545537.3:c.3334C>T (PHKA2) XP_011543839.1:p.Arg1112Trp
XM_011545538.1:c.2416C>T (PHKA2) XP_011543840.1:p.Arg806Trp
XM_011545538.3:c.2416C>T (PHKA2) XP_011543840.1:p.Arg806Trp
XM_017029580.2:c.2527C>T (PHKA2) XP_016885069.1:p.Arg843Trp
XR_001755698.2:n.5537C>T (PHKA2)
XR_002958777.1:n.3614C>T (PHKA2)