Canonical Allele Identifier: CA412374579
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893624T>A , CM000685.2:g.18893624T>A GRCh38
NC_000023.10:g.18911742T>A , CM000685.1:g.18911742T>A GRCh37
NC_000023.9:g.18821663T>A NCBI36
NG_016622.1:g.95739A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3569A>T (PHKA2) MANE Select ENSP00000369274.4:p.Lys1190Ile
ENST00000379942.4:c.3569A>T (PHKA2) ENSP00000369274.4:p.Lys1190Ile
ENST00000469485.5:n.1294A>T (PHKA2)
ENST00000473597.1:n.338A>T (PHKA2)
ENST00000481718.1:n.2463A>T (PHKA2)
NM_000292.2:c.3569A>T (PHKA2) NP_000283.1:p.Lys1190Ile
NR_029379.1:n.467+286T>A (PHKA2-AS1)
XM_005274548.3:c.3515A>T (PHKA2) XP_005274605.1:p.Lys1172Ile
XM_005274550.3:c.3485A>T (PHKA2) XP_005274607.1:p.Lys1162Ile
XM_006724496.2:c.3593A>T (PHKA2) XP_006724559.1:p.Lys1198Ile
XM_006724498.2:c.3047A>T (PHKA2) XP_006724561.1:p.Lys1016Ile
XM_011545537.1:c.3494A>T (PHKA2) XP_011543839.1:p.Lys1165Ile
XM_011545538.1:c.2576A>T (PHKA2) XP_011543840.1:p.Lys859Ile
XM_005274548.5:c.3515A>T (PHKA2) XP_005274605.1:p.Lys1172Ile
XM_005274550.5:c.3485A>T (PHKA2) XP_005274607.1:p.Lys1162Ile
XM_006724496.4:c.3593A>T (PHKA2) XP_006724559.1:p.Lys1198Ile
XM_006724498.4:c.3047A>T (PHKA2) XP_006724561.1:p.Lys1016Ile
XM_011545537.3:c.3494A>T (PHKA2) XP_011543839.1:p.Lys1165Ile
XM_011545538.3:c.2576A>T (PHKA2) XP_011543840.1:p.Lys859Ile
XM_017029580.2:c.2687A>T (PHKA2) XP_016885069.1:p.Lys896Ile
XR_001755698.2:n.5697A>T (PHKA2)
NM_000292.3:c.3569A>T (PHKA2) MANE Select NP_000283.1:p.Lys1190Ile