Canonical Allele Identifier: CA10361310
Community Standard Title: NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
Gene: PHKA2 HGNC NCBI
PHKA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18894339G>A , CM000685.2:g.18894339G>A GRCh38
NC_000023.10:g.18912457G>A , CM000685.1:g.18912457G>A GRCh37
NC_000023.9:g.18822378G>A NCBI36
NG_016622.1:g.95024C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3402C>T (PHKA2) MANE Select NP_000283.1:p.Pro1134=
ENST00000379942.5:c.3402C>T (PHKA2) MANE Select ENSP00000369274.4:p.Pro1134=
NM_000292.2:c.3402C>T (PHKA2) NP_000283.1:p.Pro1134=
NR_029379.1:n.660G>A (PHKA2-AS1)
ENST00000379942.4:c.3402C>T (PHKA2) ENSP00000369274.4:p.Pro1134=
ENST00000469485.5:n.1127C>T (PHKA2)
ENST00000473597.1:n.171C>T (PHKA2)
ENST00000473739.5:n.494C>T (PHKA2)
ENST00000481718.1:n.2296C>T (PHKA2)
XM_005274548.3:c.3348C>T (PHKA2) XP_005274605.1:p.Pro1116=
XM_005274548.5:c.3348C>T (PHKA2) XP_005274605.1:p.Pro1116=
XM_005274550.3:c.3318C>T (PHKA2) XP_005274607.1:p.Pro1106=
XM_005274550.5:c.3318C>T (PHKA2) XP_005274607.1:p.Pro1106=
XM_006724496.2:c.3426C>T (PHKA2) XP_006724559.1:p.Pro1142=
XM_006724496.4:c.3426C>T (PHKA2) XP_006724559.1:p.Pro1142=
XM_006724498.2:c.2880C>T (PHKA2) XP_006724561.1:p.Pro960=
XM_006724498.4:c.2880C>T (PHKA2) XP_006724561.1:p.Pro960=
XM_011545537.1:c.3327C>T (PHKA2) XP_011543839.1:p.Pro1109=
XM_011545537.3:c.3327C>T (PHKA2) XP_011543839.1:p.Pro1109=
XM_011545538.1:c.2409C>T (PHKA2) XP_011543840.1:p.Pro803=
XM_011545538.3:c.2409C>T (PHKA2) XP_011543840.1:p.Pro803=
XM_017029580.2:c.2520C>T (PHKA2) XP_016885069.1:p.Pro840=
XR_001755698.2:n.5530C>T (PHKA2)
XR_002958777.1:n.3607C>T (PHKA2)