Canonical Allele Identifier: CA10361246
Community Standard Title: NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893528T>G , CM000685.2:g.18893528T>G GRCh38
NC_000023.10:g.18911646T>G , CM000685.1:g.18911646T>G GRCh37
NC_000023.9:g.18821567T>G NCBI36
NG_016622.1:g.95835A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3665A>C (PHKA2) MANE Select NP_000283.1:p.Tyr1222Ser
ENST00000379942.5:c.3665A>C (PHKA2) MANE Select ENSP00000369274.4:p.Tyr1222Ser
NM_000292.2:c.3665A>C (PHKA2) NP_000283.1:p.Tyr1222Ser
NR_029379.1:n.467+190T>G (PHKA2-AS1)
ENST00000379942.4:c.3665A>C (PHKA2) ENSP00000369274.4:p.Tyr1222Ser
ENST00000469485.5:n.1390A>C (PHKA2)
ENST00000473597.1:n.434A>C (PHKA2)
ENST00000481718.1:n.2559A>C (PHKA2)
XM_005274548.3:c.3611A>C (PHKA2) XP_005274605.1:p.Tyr1204Ser
XM_005274548.5:c.3611A>C (PHKA2) XP_005274605.1:p.Tyr1204Ser
XM_005274550.3:c.3581A>C (PHKA2) XP_005274607.1:p.Tyr1194Ser
XM_005274550.5:c.3581A>C (PHKA2) XP_005274607.1:p.Tyr1194Ser
XM_006724496.2:c.3689A>C (PHKA2) XP_006724559.1:p.Tyr1230Ser
XM_006724496.4:c.3689A>C (PHKA2) XP_006724559.1:p.Tyr1230Ser
XM_006724498.2:c.3143A>C (PHKA2) XP_006724561.1:p.Tyr1048Ser
XM_006724498.4:c.3143A>C (PHKA2) XP_006724561.1:p.Tyr1048Ser
XM_011545537.1:c.3590A>C (PHKA2) XP_011543839.1:p.Tyr1197Ser
XM_011545537.3:c.3590A>C (PHKA2) XP_011543839.1:p.Tyr1197Ser
XM_011545538.1:c.2672A>C (PHKA2) XP_011543840.1:p.Tyr891Ser
XM_011545538.3:c.2672A>C (PHKA2) XP_011543840.1:p.Tyr891Ser
XM_017029580.2:c.2783A>C (PHKA2) XP_016885069.1:p.Tyr928Ser
XR_001755698.2:n.5793A>C (PHKA2)