ETV2 ETS variant transcription factor 2

Information
Symbol
ETV2
Type
protein-coding
Description
ETS variant transcription factor 2
Entrez Gene ID
2116
Genome
hg19
Position
chr19:36,132,647-36,135,773
Genome
hg38
Position
chr19:35,641,745-35,644,871
MIM
609358 OMIM
HGNC
HGNC:3491 HGNC
Ensembl
ENSG00000105672 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Likely benign 0 2
Uncertain significance 0 48
Ranking
ClinVar
0
0
0
50
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 :
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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 ER71
SYNONYM ETSRP71
MIM 609358 OMIM
HGNC HGNC:3491 HGNC
Ensembl ENSG00000105672 Ensembl
AllianceGenome HGNC:3491
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000402764.6 hg38 chr19 35,641,745 35,644,871 3,127
ENST00000479824.5 hg38 chr19 35,641,793 35,644,871 3,079
ENST00000379023.8 hg38 chr19 35,641,745 35,644,871 3,127
ENST00000379026.6 hg38 chr19 35,641,745 35,644,871 3,127
ENST00000403402.1 hg38 chr19 35,642,155 35,644,852 2,698
ENST00000379023.8 hg19 chr19 36,132,647 36,135,773 3,127
ENST00000379026.6 hg19 chr19 36,132,647 36,135,773 3,127
ENST00000402764.6 hg19 chr19 36,132,647 36,135,773 3,127
ENST00000479824.5 hg19 chr19 36,132,695 36,135,773 3,079
ENST00000403402.1 hg19 chr19 36,133,057 36,135,754 2,698
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