Canonical Allele Identifier: CA2693234124
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

gnomAD v4: X-18893658-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18893658G>A , CM000685.2:g.18893658G>A GRCh38
NC_000023.10:g.18911776G>A , CM000685.1:g.18911776G>A GRCh37
NC_000023.9:g.18821697G>A NCBI36
NG_016622.1:g.95705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3538-3C>T (PHKA2) MANE Select ENSP00000369274.4:n.3538-3C>T
ENST00000379942.4:c.3538-3C>T (PHKA2) ENSP00000369274.4:n.3538-3C>T
ENST00000469485.5:n.1263-3C>T (PHKA2)
ENST00000473597.1:n.307-3C>T (PHKA2)
ENST00000481718.1:n.2432-3C>T (PHKA2)
NM_000292.2:c.3538-3C>T (PHKA2) NP_000283.1:n.3538-3C>T
NR_029379.1:n.467+320G>A (PHKA2-AS1)
XM_005274548.3:c.3484-3C>T (PHKA2) XP_005274605.1:n.3484-3C>T
XM_005274550.3:c.3454-3C>T (PHKA2) XP_005274607.1:n.3454-3C>T
XM_006724496.2:c.3562-3C>T (PHKA2) XP_006724559.1:n.3562-3C>T
XM_006724498.2:c.3016-3C>T (PHKA2) XP_006724561.1:n.3016-3C>T
XM_011545537.1:c.3463-3C>T (PHKA2) XP_011543839.1:n.3463-3C>T
XM_011545538.1:c.2545-3C>T (PHKA2) XP_011543840.1:n.2545-3C>T
XM_005274548.5:c.3484-3C>T (PHKA2) XP_005274605.1:n.3484-3C>T
XM_005274550.5:c.3454-3C>T (PHKA2) XP_005274607.1:n.3454-3C>T
XM_006724496.4:c.3562-3C>T (PHKA2) XP_006724559.1:n.3562-3C>T
XM_006724498.4:c.3016-3C>T (PHKA2) XP_006724561.1:n.3016-3C>T
XM_011545537.3:c.3463-3C>T (PHKA2) XP_011543839.1:n.3463-3C>T
XM_011545538.3:c.2545-3C>T (PHKA2) XP_011543840.1:n.2545-3C>T
XM_017029580.2:c.2656-3C>T (PHKA2) XP_016885069.1:n.2656-3C>T
XR_001755698.2:n.5666-3C>T (PHKA2)
NM_000292.3:c.3538-3C>T (PHKA2) MANE Select NP_000283.1:n.3538-3C>T