Canonical Allele Identifier: CA2806482171
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753376_30753385del , CM000678.2:g.30753376_30753385del GRCh38
NC_000016.9:g.30764697_30764706del , CM000678.1:g.30764697_30764706del GRCh37
NC_000016.8:g.30672198_30672207del NCBI36
NG_016616.1:g.10078_10087del
NG_016616.2:g.10078_10087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.393-18_393-9del MANE Select ENSP00000455607.1:n.393-18_393-9del
ENST00000328273.11:c.393-18_393-9del ENSP00000329968.7:n.393-18_393-9del
ENST00000424889.7:c.393-18_393-9del ENSP00000388571.3:n.393-18_393-9del
ENST00000561712.1:c.67-18_67-9del
ENST00000563588.5:c.393-18_393-9del ENSP00000455607.1:n.393-18_393-9del
ENST00000563607.1:c.*65-18_*65-9del ENSP00000454641.1:n.*65-18_*65-9del
ENST00000563913.5:n.726-18_726-9del
ENST00000564838.5:n.767-18_767-9del
ENST00000565897.5:c.393-18_393-9del ENSP00000457359.1:n.393-18_393-9del
ENST00000565924.5:c.393-18_393-9del ENSP00000455091.1:n.393-18_393-9del
ENST00000569684.1:n.805-18_805-9del
NM_000294.2:c.393-18_393-9del NP_000285.1:n.393-18_393-9del
NM_001172432.1:c.393-18_393-9del NP_001165903.1:n.393-18_393-9del
NM_000294.3:c.393-18_393-9del MANE Select NP_000285.1:n.393-18_393-9del
NM_001172432.2:c.393-18_393-9del NP_001165903.1:n.393-18_393-9del