Canonical Allele Identifier: CA412374684
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893647A>C , CM000685.2:g.18893647A>C GRCh38
NC_000023.10:g.18911765A>C , CM000685.1:g.18911765A>C GRCh37
NC_000023.9:g.18821686A>C NCBI36
NG_016622.1:g.95716T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3546T>G (PHKA2) MANE Select ENSP00000369274.4:p.Ile1182Met
ENST00000379942.4:c.3546T>G (PHKA2) ENSP00000369274.4:p.Ile1182Met
ENST00000469485.5:n.1271T>G (PHKA2)
ENST00000473597.1:n.315T>G (PHKA2)
ENST00000481718.1:n.2440T>G (PHKA2)
NM_000292.2:c.3546T>G (PHKA2) NP_000283.1:p.Ile1182Met
NR_029379.1:n.467+309A>C (PHKA2-AS1)
XM_005274548.3:c.3492T>G (PHKA2) XP_005274605.1:p.Ile1164Met
XM_005274550.3:c.3462T>G (PHKA2) XP_005274607.1:p.Ile1154Met
XM_006724496.2:c.3570T>G (PHKA2) XP_006724559.1:p.Ile1190Met
XM_006724498.2:c.3024T>G (PHKA2) XP_006724561.1:p.Ile1008Met
XM_011545537.1:c.3471T>G (PHKA2) XP_011543839.1:p.Ile1157Met
XM_011545538.1:c.2553T>G (PHKA2) XP_011543840.1:p.Ile851Met
XM_005274548.5:c.3492T>G (PHKA2) XP_005274605.1:p.Ile1164Met
XM_005274550.5:c.3462T>G (PHKA2) XP_005274607.1:p.Ile1154Met
XM_006724496.4:c.3570T>G (PHKA2) XP_006724559.1:p.Ile1190Met
XM_006724498.4:c.3024T>G (PHKA2) XP_006724561.1:p.Ile1008Met
XM_011545537.3:c.3471T>G (PHKA2) XP_011543839.1:p.Ile1157Met
XM_011545538.3:c.2553T>G (PHKA2) XP_011543840.1:p.Ile851Met
XM_017029580.2:c.2664T>G (PHKA2) XP_016885069.1:p.Ile888Met
XR_001755698.2:n.5674T>G (PHKA2)
NM_000292.3:c.3546T>G (PHKA2) MANE Select NP_000283.1:p.Ile1182Met