Canonical Allele Identifier: CA412374507
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893605G>C , CM000685.2:g.18893605G>C GRCh38
NC_000023.10:g.18911723G>C , CM000685.1:g.18911723G>C GRCh37
NC_000023.9:g.18821644G>C NCBI36
NG_016622.1:g.95758C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3588C>G (PHKA2) MANE Select ENSP00000369274.4:p.Ile1196Met
ENST00000379942.4:c.3588C>G (PHKA2) ENSP00000369274.4:p.Ile1196Met
ENST00000469485.5:n.1313C>G (PHKA2)
ENST00000473597.1:n.357C>G (PHKA2)
ENST00000481718.1:n.2482C>G (PHKA2)
NM_000292.2:c.3588C>G (PHKA2) NP_000283.1:p.Ile1196Met
NR_029379.1:n.467+267G>C (PHKA2-AS1)
XM_005274548.3:c.3534C>G (PHKA2) XP_005274605.1:p.Ile1178Met
XM_005274550.3:c.3504C>G (PHKA2) XP_005274607.1:p.Ile1168Met
XM_006724496.2:c.3612C>G (PHKA2) XP_006724559.1:p.Ile1204Met
XM_006724498.2:c.3066C>G (PHKA2) XP_006724561.1:p.Ile1022Met
XM_011545537.1:c.3513C>G (PHKA2) XP_011543839.1:p.Ile1171Met
XM_011545538.1:c.2595C>G (PHKA2) XP_011543840.1:p.Ile865Met
XM_005274548.5:c.3534C>G (PHKA2) XP_005274605.1:p.Ile1178Met
XM_005274550.5:c.3504C>G (PHKA2) XP_005274607.1:p.Ile1168Met
XM_006724496.4:c.3612C>G (PHKA2) XP_006724559.1:p.Ile1204Met
XM_006724498.4:c.3066C>G (PHKA2) XP_006724561.1:p.Ile1022Met
XM_011545537.3:c.3513C>G (PHKA2) XP_011543839.1:p.Ile1171Met
XM_011545538.3:c.2595C>G (PHKA2) XP_011543840.1:p.Ile865Met
XM_017029580.2:c.2706C>G (PHKA2) XP_016885069.1:p.Ile902Met
XR_001755698.2:n.5716C>G (PHKA2)
NM_000292.3:c.3588C>G (PHKA2) MANE Select NP_000283.1:p.Ile1196Met