SPTBN2 spectrin beta, non-erythrocytic 2

Information
Symbol
SPTBN2
Type
protein-coding
Description
spectrin beta, non-erythrocytic 2
Entrez Gene ID
6712
Genome
hg19
Position
chr11:66,453,342-66,486,343
Genome
hg38
Position
chr11:66,685,871-66,718,872
MIM
604985 OMIM
HGNC
HGNC:11276 HGNC
Ensembl
ENSG00000173898 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 48
Likely pathogenic 0 50
Benign 24 252
Likely benign 0 746
Conflicting classifications of pathogenicity 0 240
Uncertain significance 0 910
Ranking
ClinVar
0
0
390
1,458
22
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 GTRAP41
SYNONYM SCA5
SYNONYM SCAR14
MIM 604985 OMIM
HGNC HGNC:11276 HGNC
Ensembl ENSG00000173898 Ensembl
AllianceGenome HGNC:11276
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533211.6 hg38 chr11 66,682,497 66,729,216 46,720
ENST00000713742.1 hg38 chr11 66,685,655 66,728,500 42,846
ENST00000713740.1 hg38 chr11 66,685,254 66,721,240 35,987
ENST00000713741.1 hg38 chr11 66,685,254 66,728,985 43,732
ENST00000529997.5 hg38 chr11 66,685,252 66,721,240 35,989
ENST00000617502.5 hg38 chr11 66,685,871 66,718,872 33,002
ENST00000713739.1 hg38 chr11 66,685,252 66,721,240 35,989
ENST00000713738.1 hg38 chr11 66,682,496 66,728,458 45,963
ENST00000309996.7 hg38 chr11 66,685,871 66,729,226 43,356
ENST00000611817.5 hg38 chr11 66,685,871 66,744,670 58,800
ENST00000713738.1 hg19 chr11 66,449,967 66,495,929 45,963
ENST00000309996.7 hg19 chr11 66,453,342 66,496,697 43,356
ENST00000529997.5 hg19 chr11 66,452,723 66,488,711 35,989
ENST00000533211.6 hg19 chr11 66,449,968 66,496,687 46,720
ENST00000611817.5 hg19 chr11 66,453,342 66,512,141 58,800
ENST00000617502.5 hg19 chr11 66,453,342 66,486,343 33,002
ENST00000713739.1 hg19 chr11 66,452,723 66,488,711 35,989
ENST00000713740.1 hg19 chr11 66,452,725 66,488,711 35,987
ENST00000713741.1 hg19 chr11 66,452,725 66,496,456 43,732
ENST00000713742.1 hg19 chr11 66,453,126 66,495,971 42,846
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