TELO2 telomere maintenance 2

Information
Symbol
TELO2
Type
protein-coding
Description
telomere maintenance 2
Entrez Gene ID
9894
Genome
hg19
Position
chr16:1,543,361-1,560,455
Genome
hg38
Position
chr16:1,493,360-1,510,454
MIM
611140 OMIM
HGNC
HGNC:29099 HGNC
Ensembl
ENSG00000100726 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 10
Benign 0 118
Likely benign 0 378
Conflicting classifications of pathogenicity 0 30
no classification for the single variant 0 4
Uncertain significance 0 360
Ranking
ClinVar
0
0
124
732
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CLK2
SYNONYM TEL2
SYNONYM YHFS
MIM 611140 OMIM
HGNC HGNC:29099 HGNC
Ensembl ENSG00000100726 Ensembl
AllianceGenome HGNC:29099
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262319.11 hg38 chr16 1,493,360 1,510,454 17,095
ENST00000262319.11 hg19 chr16 1,543,361 1,560,455 17,095
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