SHOX2 SHOX homeobox 2

Information
Symbol
SHOX2
Type
protein-coding
Description
SHOX homeobox 2
Entrez Gene ID
6474
Genome
hg19
Position
chr3:157,814,948-157,823,949
Genome
hg38
Position
chr3:158,097,159-158,106,160
MIM
602504 OMIM
HGNC
HGNC:10854 HGNC
Ensembl
ENSG00000168779 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 18
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
78
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
[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 OG12
SYNONYM OG12X
SYNONYM SHOT
MIM 602504 OMIM
HGNC HGNC:10854 HGNC
Ensembl ENSG00000168779 Ensembl
AllianceGenome HGNC:10854
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000483851.7 hg38 chr3 158,095,905 158,106,420 10,516
ENST00000441443.6 hg38 chr3 158,096,011 158,106,050 10,040
ENST00000389589.8 hg38 chr3 158,097,159 158,106,160 9,002
ENST00000483851.7 hg19 chr3 157,813,694 157,824,209 10,516
ENST00000441443.6 hg19 chr3 157,813,800 157,823,839 10,040
ENST00000389589.8 hg19 chr3 157,814,948 157,823,949 9,002
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