Canonical Allele Identifier: CA412376281
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894402C>A , CM000685.2:g.18894402C>A GRCh38
NC_000023.10:g.18912520C>A , CM000685.1:g.18912520C>A GRCh37
NC_000023.9:g.18822441C>A NCBI36
NG_016622.1:g.94961G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.3339G>T (PHKA2) MANE Select ENSP00000369274.4:p.Met1113Ile
ENST00000379942.4:c.3339G>T (PHKA2) ENSP00000369274.4:p.Met1113Ile
ENST00000469485.5:n.1064G>T (PHKA2)
ENST00000473597.1:n.108G>T (PHKA2)
ENST00000473739.5:n.431G>T (PHKA2)
ENST00000481718.1:n.2233G>T (PHKA2)
NM_000292.2:c.3339G>T (PHKA2) NP_000283.1:p.Met1113Ile
NR_029379.1:n.723C>A (PHKA2-AS1)
XM_005274548.3:c.3285G>T (PHKA2) XP_005274605.1:p.Met1095Ile
XM_005274550.3:c.3255G>T (PHKA2) XP_005274607.1:p.Met1085Ile
XM_006724496.2:c.3363G>T (PHKA2) XP_006724559.1:p.Met1121Ile
XM_006724498.2:c.2817G>T (PHKA2) XP_006724561.1:p.Met939Ile
XM_011545537.1:c.3264G>T (PHKA2) XP_011543839.1:p.Met1088Ile
XM_011545538.1:c.2346G>T (PHKA2) XP_011543840.1:p.Met782Ile
XM_005274548.5:c.3285G>T (PHKA2) XP_005274605.1:p.Met1095Ile
XM_005274550.5:c.3255G>T (PHKA2) XP_005274607.1:p.Met1085Ile
XM_006724496.4:c.3363G>T (PHKA2) XP_006724559.1:p.Met1121Ile
XM_006724498.4:c.2817G>T (PHKA2) XP_006724561.1:p.Met939Ile
XM_011545537.3:c.3264G>T (PHKA2) XP_011543839.1:p.Met1088Ile
XM_011545538.3:c.2346G>T (PHKA2) XP_011543840.1:p.Met782Ile
XM_017029580.2:c.2457G>T (PHKA2) XP_016885069.1:p.Met819Ile
XR_001755698.2:n.5467G>T (PHKA2)
XR_002958777.1:n.3544G>T (PHKA2)
NM_000292.3:c.3339G>T (PHKA2) MANE Select NP_000283.1:p.Met1113Ile