SOX2 SRY-box transcription factor 2

Information
Symbol
SOX2
Type
protein-coding
Description
SRY-box transcription factor 2
Entrez Gene ID
6657
Genome
hg19
Position
chr3:181,429,713-181,432,224
Genome
hg38
Position
chr3:181,711,925-181,714,436
MIM
184429 OMIM
HGNC
HGNC:11195 HGNC
Ensembl
ENSG00000181449 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 22 140
Likely pathogenic 1 26
Benign 0 32
Likely benign 0 74
Conflicting classifications of pathogenicity 0 14
not provided 68 0
Uncertain significance 0 104
Ranking
ClinVar
0
0
38
278
54
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 :
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 ANOP3
SYNONYM MCOPS3
MIM 184429 OMIM
HGNC HGNC:11195 HGNC
Ensembl ENSG00000181449 Ensembl
AllianceGenome HGNC:11195
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000325404.3 hg38 chr3 181,711,925 181,714,436 2,512
ENST00000325404.3 hg19 chr3 181,429,713 181,432,224 2,512
KeyValue
strand+
start181,429,711
Gene SymbolSOX2
Entrez GeneId6,657
Chr Band3q26.3-q27
end181,432,222
chrchr3
NameSRY (sex determining region Y)-box 2
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