Canonical Allele Identifier: CA412374607
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893631G>C , CM000685.2:g.18893631G>C GRCh38
NC_000023.10:g.18911749G>C , CM000685.1:g.18911749G>C GRCh37
NC_000023.9:g.18821670G>C NCBI36
NG_016622.1:g.95732C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3562C>G (PHKA2) MANE Select ENSP00000369274.4:p.Leu1188Val
ENST00000379942.4:c.3562C>G (PHKA2) ENSP00000369274.4:p.Leu1188Val
ENST00000469485.5:n.1287C>G (PHKA2)
ENST00000473597.1:n.331C>G (PHKA2)
ENST00000481718.1:n.2456C>G (PHKA2)
NM_000292.2:c.3562C>G (PHKA2) NP_000283.1:p.Leu1188Val
NR_029379.1:n.467+293G>C (PHKA2-AS1)
XM_005274548.3:c.3508C>G (PHKA2) XP_005274605.1:p.Leu1170Val
XM_005274550.3:c.3478C>G (PHKA2) XP_005274607.1:p.Leu1160Val
XM_006724496.2:c.3586C>G (PHKA2) XP_006724559.1:p.Leu1196Val
XM_006724498.2:c.3040C>G (PHKA2) XP_006724561.1:p.Leu1014Val
XM_011545537.1:c.3487C>G (PHKA2) XP_011543839.1:p.Leu1163Val
XM_011545538.1:c.2569C>G (PHKA2) XP_011543840.1:p.Leu857Val
XM_005274548.5:c.3508C>G (PHKA2) XP_005274605.1:p.Leu1170Val
XM_005274550.5:c.3478C>G (PHKA2) XP_005274607.1:p.Leu1160Val
XM_006724496.4:c.3586C>G (PHKA2) XP_006724559.1:p.Leu1196Val
XM_006724498.4:c.3040C>G (PHKA2) XP_006724561.1:p.Leu1014Val
XM_011545537.3:c.3487C>G (PHKA2) XP_011543839.1:p.Leu1163Val
XM_011545538.3:c.2569C>G (PHKA2) XP_011543840.1:p.Leu857Val
XM_017029580.2:c.2680C>G (PHKA2) XP_016885069.1:p.Leu894Val
XR_001755698.2:n.5690C>G (PHKA2)
NM_000292.3:c.3562C>G (PHKA2) MANE Select NP_000283.1:p.Leu1188Val