Canonical Allele Identifier: CA2418089490
Community Standard Title: NM_000292.3(PHKA2):c.556C= (p.Arg186=)
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18945140G= , CM000685.2:g.18945140G= GRCh38
NC_000023.10:g.18963258G= , CM000685.1:g.18963258G= GRCh37
NC_000023.9:g.18873179G= NCBI36
NG_016622.1:g.44223C=

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.556C= MANE Select NP_000283.1:p.Arg186=
ENST00000379942.5:c.556C= MANE Select ENSP00000369274.4:p.Arg186=
NM_000292.2:c.556C= NP_000283.1:p.Arg186=
ENST00000379942.4:c.556C= ENSP00000369274.4:p.Arg186=
XM_005274548.3:c.556C= XP_005274605.1:p.Arg186=
XM_005274548.5:c.556C= XP_005274605.1:p.Arg186=
XM_005274550.3:c.556C= XP_005274607.1:p.Arg186=
XM_005274550.5:c.556C= XP_005274607.1:p.Arg186=
XM_006724496.2:c.556C= XP_006724559.1:p.Arg186=
XM_006724496.4:c.556C= XP_006724559.1:p.Arg186=
XM_006724498.2:c.10C= XP_006724561.1:p.Arg4=
XM_006724498.4:c.10C= XP_006724561.1:p.Arg4=
XM_011545537.1:c.556C= XP_011543839.1:p.Arg186=
XM_011545537.3:c.556C= XP_011543839.1:p.Arg186=
XM_017029580.2:c.-286C= XP_016885069.1:n.-286C=
XR_001755697.2:n.726C=
XR_001755698.2:n.726C=
XR_002958777.1:n.726C=
XR_950461.1:n.740C=
XR_950461.3:n.726C=