MutSpliceDB: a database of Splice Sites Variants
| Gene | TSC2 |
| Mutation | NM_000548.5:c.1946+2T>C |
| Allele registry ID | CA016272 |
| Effect | Intron inclusion between exons 18 & 19 |
RNA-seq evidence:
| Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
|---|---|---|---|---|---|---|
| TCGA-DI-A1BU-01A | aaececd2-e6af-4a8a-ab8e-51ea5edcf0b7_gdc_realn_rehead.bam | GDC/TCGA | TCGA-DI-A1BU-01A_TSC2_CA016272.jpeg | hg38 |
