Canonical Allele Identifier: CA2739266722
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30748873_30748874del , CM000678.2:g.30748873_30748874del GRCh38
NC_000016.9:g.30760194_30760195del , CM000678.1:g.30760194_30760195del GRCh37
NC_000016.8:g.30667695_30667696del NCBI36
NG_016616.1:g.5575_5576del
NG_016616.2:g.5575_5576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.53_54del MANE Select ENSP00000455607.1:p.Lys18ArgfsTer9
ENST00000328273.11:c.53_54del ENSP00000329968.7:p.Lys18ArgfsTer9
ENST00000424889.7:c.53_54del ENSP00000388571.3:p.Lys18ArgfsTer9
ENST00000563588.5:c.53_54del ENSP00000455607.1:p.Lys18ArgfsTer9
ENST00000563607.1:c.53_54del ENSP00000454641.1:p.Lys18ArgfsTer9
ENST00000563913.5:n.119_120del
ENST00000564838.5:n.160_161del
ENST00000565897.5:c.53_54del ENSP00000457359.1:p.Lys18ArgfsTer9
ENST00000565924.5:c.53_54del ENSP00000455091.1:p.Lys18ArgfsTer9
ENST00000569762.1:n.30_31del
NM_000294.2:c.53_54del NP_000285.1:p.Lys18ArgfsTer9
NM_001172432.1:c.53_54del NP_001165903.1:p.Lys18ArgfsTer9
NM_000294.3:c.53_54del MANE Select NP_000285.1:p.Lys18ArgfsTer9
NM_001172432.2:c.53_54del NP_001165903.1:p.Lys18ArgfsTer9