Canonical Allele Identifier: CA2740097880
Community Standard Title: NM_000294.3(PHKG2):c.166del (p.Glu56LysfsTer2)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751176del , CM000678.2:g.30751176del GRCh38
NC_000016.9:g.30762497del , CM000678.1:g.30762497del GRCh37
NC_000016.8:g.30669998del NCBI36
NG_016616.1:g.7878del
NG_016616.2:g.7878del

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.166del MANE Select NP_000285.1:p.Glu56LysfsTer2
ENST00000563588.6:c.166del MANE Select ENSP00000455607.1:p.Glu56LysfsTer2
NM_000294.2:c.166del NP_000285.1:p.Glu56LysfsTer2
NM_001172432.1:c.166del NP_001165903.1:p.Glu56LysfsTer2
NM_001172432.2:c.166del NP_001165903.1:p.Glu56LysfsTer2
ENST00000328273.11:c.166del ENSP00000329968.7:p.Glu56LysfsTer2
ENST00000424889.7:c.166del ENSP00000388571.3:p.Glu56LysfsTer2
ENST00000563588.5:c.166del ENSP00000455607.1:p.Glu56LysfsTer2
ENST00000563607.1:c.166del ENSP00000454641.1:p.Glu56LysfsTer2
ENST00000563913.5:n.232del
ENST00000564838.5:n.273del
ENST00000565897.5:c.166del ENSP00000457359.1:p.Glu56LysfsTer2
ENST00000565924.5:c.166del ENSP00000455091.1:p.Glu56LysfsTer2
ENST00000569762.1:n.143del