ATXN2 ataxin 2

Information
Symbol
ATXN2
Type
protein-coding
Description
ataxin 2
Entrez Gene ID
6311
Genome
hg19
Position
chr12:111,890,018-112,037,119
Genome
hg38
Position
chr12:111,452,214-111,599,315
MIM
601517 OMIM
HGNC
HGNC:10555 HGNC
Ensembl
ENSG00000204842 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 14 24
Likely benign 0 54
Conflicting classifications of pathogenicity 0 6
low penetrance 0 2
not provided 1 0
Uncertain significance 0 154
Ranking
ClinVar
0
0
2
202
18
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 ATX2
SYNONYM SCA2
SYNONYM TNRC13
MIM 601517 OMIM
HGNC HGNC:10555 HGNC
Ensembl ENSG00000204842 Ensembl
AllianceGenome HGNC:10555
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000542287.6 hg38 chr12 111,452,754 111,599,673 146,920
ENST00000644883.1 hg38 chr12 111,468,358 111,599,122 130,765
ENST00000647305.1 hg38 chr12 111,469,426 111,599,122 129,697
ENST00000616825.4 hg38 chr12 111,452,215 111,599,676 147,462
ENST00000672613.1 hg38 chr12 111,452,214 111,599,315 147,102
ENST00000608853.5 hg38 chr12 111,452,214 111,599,350 147,137
ENST00000535949.5 hg38 chr12 111,452,754 111,599,673 146,920
ENST00000673283.1 hg38 chr12 111,452,529 111,599,079 146,551
ENST00000643669.2 hg38 chr12 111,452,214 111,599,315 147,102
ENST00000389153.10 hg38 chr12 111,452,223 111,599,122 146,900
ENST00000673557.1 hg38 chr12 111,452,482 111,599,126 146,645
ENST00000673449.1 hg38 chr12 111,452,683 111,599,122 146,440
ENST00000550104.5 hg38 chr12 111,452,268 111,599,676 147,409
ENST00000673436.1 hg38 chr12 111,452,214 111,599,315 147,102
ENST00000389153.10 hg19 chr12 111,890,027 112,036,926 146,900
ENST00000542287.6 hg19 chr12 111,890,558 112,037,477 146,920
ENST00000535949.5 hg19 chr12 111,890,558 112,037,477 146,920
ENST00000673283.1 hg19 chr12 111,890,333 112,036,883 146,551
ENST00000673449.1 hg19 chr12 111,890,487 112,036,926 146,440
ENST00000673557.1 hg19 chr12 111,890,286 112,036,930 146,645
ENST00000550104.5 hg19 chr12 111,890,072 112,037,480 147,409
ENST00000608853.5 hg19 chr12 111,890,018 112,037,154 147,137
ENST00000616825.4 hg19 chr12 111,890,019 112,037,480 147,462
ENST00000673436.1 hg19 chr12 111,890,018 112,037,119 147,102
ENST00000672613.1 hg19 chr12 111,890,018 112,037,119 147,102
ENST00000643669.2 hg19 chr12 111,890,018 112,037,119 147,102
ENST00000644883.1 hg19 chr12 111,906,162 112,036,926 130,765
ENST00000647305.1 hg19 chr12 111,907,230 112,036,926 129,697
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