The TSC2 gene homepage

General information
Gene symbol TSC2
Gene name tuberous sclerosis 2
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_005895.1
Transcript reference NM_000548.3, NM_001077183.1, NM_001114382.1, XM_005255527.2, XM_005255528.2, XM_005255529.2, XM_005255530.2, XM_005255531.2, XM_005255532.2
Associated with diseases ID, LAM, TSC-2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 215
Unique public DNA variants reported 55
Individuals with public variants 35
Hidden variants 21
Date created November 30, -0001
Date last updated September 28, 2016
Version TSC2:160928

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 List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:12363
Entrez Gene 7249
PubMed articles TSC2
OMIM - Gene 191092
OMIM - Diseases LAM (lymphangioleiomyomatosis (LAM))
TSC-2 (tuberous sclerosis, type 2 (TSC-2))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023142 16 transcript variant 1 NM_000548.3 NP_000539.2 215
00023143 16 transcript variant 5 NM_001114382.1 NP_001107854.1 215
00023144 16 transcript variant 4 NM_001077183.1 NP_001070651.1 214
00037456 16 transcript variant X3 XM_005255529.2 XP_005255586.1 -
00037457 16 transcript variant X5 XM_005255531.2 XP_005255588.1 -
00037458 16 transcript variant X4 XM_005255530.2 XP_005255587.1 -
00037459 16 transcript variant X2 XM_005255528.2 XP_005255585.1 -
00037460 16 transcript variant X1 XM_005255527.2 XP_005255584.1 -
00037461 16 transcript variant X6 XM_005255532.2 XP_005255589.1 -