Canonical Allele Identifier: CA2695223526
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753262_30753268del , CM000678.2:g.30753262_30753268del GRCh38
NC_000016.9:g.30764583_30764589del , CM000678.1:g.30764583_30764589del GRCh37
NC_000016.8:g.30672084_30672090del NCBI36
NG_016616.1:g.9964_9970del
NG_016616.2:g.9964_9970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.357_363del MANE Select ENSP00000455607.1:p.Thr120ArgfsTer20
ENST00000328273.11:c.357_363del ENSP00000329968.7:p.Thr120ArgfsTer20
ENST00000424889.7:c.357_363del ENSP00000388571.3:p.Thr120ArgfsTer20
ENST00000561712.1:c.31_37del
ENST00000563588.5:c.357_363del ENSP00000455607.1:p.Thr120ArgfsTer20
ENST00000563607.1:c.*29_*35del ENSP00000454641.1:n.*29_*35del
ENST00000563913.5:n.690_696del
ENST00000564838.5:n.731_737del
ENST00000565897.5:c.357_363del ENSP00000457359.1:p.Thr120ArgfsTer20
ENST00000565924.5:c.357_363del ENSP00000455091.1:p.Thr120ArgfsTer20
ENST00000569684.1:n.769_775del
NM_000294.2:c.357_363del NP_000285.1:p.Thr120ArgfsTer20
NM_001172432.1:c.357_363del NP_001165903.1:p.Thr120ArgfsTer20
NM_000294.3:c.357_363del MANE Select NP_000285.1:p.Thr120ArgfsTer20
NM_001172432.2:c.357_363del NP_001165903.1:p.Thr120ArgfsTer20