ATXN2L ataxin 2 like

Information
Symbol
ATXN2L
Type
protein-coding
Description
ataxin 2 like
Entrez Gene ID
11273
Genome
hg19
Position
chr16:28,834,414-28,848,558
Genome
hg38
Position
chr16:28,823,093-28,837,237
MIM
607931 OMIM
HGNC
HGNC:31326 HGNC
Ensembl
ENSG00000168488 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
not provided 1 0
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
104
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
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 A2D
SYNONYM A2LG
SYNONYM A2LP
SYNONYM A2RP
MIM 607931 OMIM
HGNC HGNC:31326 HGNC
Ensembl ENSG00000168488 Ensembl
AllianceGenome HGNC:31326
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395547.6 hg38 chr16 28,823,093 28,837,237 14,145
ENST00000325215.10 hg38 chr16 28,823,093 28,837,232 14,140
ENST00000340394.12 hg38 chr16 28,823,048 28,837,237 14,190
ENST00000564304.5 hg38 chr16 28,823,095 28,836,919 13,825
ENST00000336783.9 hg38 chr16 28,822,999 28,837,232 14,234
ENST00000570200.5 hg38 chr16 28,823,252 28,837,215 13,964
ENST00000382686.8 hg38 chr16 28,823,093 28,837,237 14,145
ENST00000336783.9 hg19 chr16 28,834,320 28,848,553 14,234
ENST00000340394.12 hg19 chr16 28,834,369 28,848,558 14,190
ENST00000325215.10 hg19 chr16 28,834,414 28,848,553 14,140
ENST00000382686.8 hg19 chr16 28,834,414 28,848,558 14,145
ENST00000395547.6 hg19 chr16 28,834,414 28,848,558 14,145
ENST00000564304.5 hg19 chr16 28,834,416 28,848,240 13,825
ENST00000570200.5 hg19 chr16 28,834,573 28,848,536 13,964
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