TERF2 telomeric repeat binding factor 2

Information
Symbol
TERF2
Type
protein-coding
Description
telomeric repeat binding factor 2
Entrez Gene ID
7014
Genome
hg19
Position
chr16:69,389,470-69,419,910
Genome
hg38
Position
chr16:69,355,567-69,386,007
MIM
602027 OMIM
HGNC
HGNC:11729 HGNC
Ensembl
ENSG00000132604 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 30
Likely benign 0 14
not provided 2 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
4
80
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 TRBF2
SYNONYM TRF2
MIM 602027 OMIM
HGNC HGNC:11729 HGNC
Ensembl ENSG00000132604 Ensembl
AllianceGenome HGNC:11729
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000254942.8 hg38 chr16 69,355,567 69,386,007 30,441
ENST00000567296.6 hg38 chr16 69,370,211 69,385,988 15,778
ENST00000254942.8 hg19 chr16 69,389,470 69,419,910 30,441
ENST00000567296.6 hg19 chr16 69,404,114 69,419,891 15,778
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