RTN2 reticulon 2

Information
Symbol
RTN2
Type
protein-coding
Description
reticulon 2
Entrez Gene ID
6253
Genome
hg19
Position
chr19:45,988,552-46,000,305
Genome
hg38
Position
chr19:45,485,294-45,497,047
MIM
603183 OMIM
HGNC
HGNC:10468 HGNC
Ensembl
ENSG00000125744 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 20
Benign 0 72
Likely benign 0 156
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 252
Ranking
ClinVar
0
0
76
404
2
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 NSP2
SYNONYM NSPL1
SYNONYM NSPLI
SYNONYM SPG12
MIM 603183 OMIM
HGNC HGNC:10468 HGNC
Ensembl ENSG00000125744 Ensembl
AllianceGenome HGNC:10468
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000344680.8 hg38 chr19 45,485,294 45,497,055 11,762
ENST00000590526.5 hg38 chr19 45,485,294 45,497,055 11,762
ENST00000430715.6 hg38 chr19 45,485,294 45,493,267 7,974
ENST00000245923.9 hg38 chr19 45,485,294 45,497,047 11,754
ENST00000430715.6 hg19 chr19 45,988,552 45,996,525 7,974
ENST00000245923.9 hg19 chr19 45,988,552 46,000,305 11,754
ENST00000344680.8 hg19 chr19 45,988,552 46,000,313 11,762
ENST00000590526.5 hg19 chr19 45,988,552 46,000,313 11,762
Genome browser