The TSC2 gene homepage

General information
Gene symbol TSC2
Gene name tuberous sclerosis 2
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference LRG_487
Transcript reference NM_000548.3, NM_000548.4
Associated with diseases TSC
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 259
Unique public DNA variants reported 247
Individuals with public variants 259
Hidden variants -
Date created February 16, 2015
Date last updated June 27, 2017
Version TSC2:170627

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL LRG_487
HGNC 12363
Entrez Gene 7249
PubMed articles TSC2
OMIM - Gene 191092
OMIM - Diseases TSC (Tuberous Sclerosis)
HGMD TSC2
GeneCards TSC2
GeneTests TSC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000142 16 transcript variant 1 NM_000548.3 NP_000539.2 218
00000291 16 transcript variant 1 NM_000548.4 NP_000539.2 41


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