Canonical Allele Identifier: CA2418091322
Gene: PHKA2 HGNC NCBI

Linked Data

dbSNP Id: rs2048668094

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18950722dup , CM000685.2:g.18950722dup GRCh38
NC_000023.10:g.18968840dup , CM000685.1:g.18968840dup GRCh37
NC_000023.9:g.18878761dup NCBI36
NG_016622.1:g.38641dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379942.5:c.454+382dup MANE Select ENSP00000369274.4:n.454+382dup
ENST00000379942.4:c.454+382dup ENSP00000369274.4:n.454+382dup
NM_000292.2:c.454+382dup NP_000283.1:n.454+382dup
XM_005274548.3:c.454+382dup XP_005274605.1:n.454+382dup
XM_005274550.3:c.454+382dup XP_005274607.1:n.454+382dup
XM_006724496.2:c.454+382dup XP_006724559.1:n.454+382dup
XM_006724498.2:c.-93+1772dup XP_006724561.1:n.-93+1772dup
XM_011545537.1:c.454+382dup XP_011543839.1:n.454+382dup
XR_950461.1:n.638+382dup
XM_005274548.5:c.454+382dup XP_005274605.1:n.454+382dup
XM_005274550.5:c.454+382dup XP_005274607.1:n.454+382dup
XM_006724496.4:c.454+382dup XP_006724559.1:n.454+382dup
XM_006724498.4:c.-93+1772dup XP_006724561.1:n.-93+1772dup
XM_011545537.3:c.454+382dup XP_011543839.1:n.454+382dup
XM_017029580.2:c.-388+382dup XP_016885069.1:n.-388+382dup
XR_001755697.2:n.624+382dup
XR_001755698.2:n.624+382dup
XR_002958777.1:n.624+382dup
XR_950461.3:n.624+382dup
NM_000292.3:c.454+382dup MANE Select NP_000283.1:n.454+382dup