MutSpliceDB: a database of Splice Sites Variants
Gene | MSH2 |
Mutation | NM_000251.2:c.1276+1G>A |
Allele registry ID | CA017744 |
Effect | Intron inclusion between exons 7 & 8 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
EFO-27 | G20475.EFO-27.2.bam | GDC/CCLE | EFO-27_MSH2_CA017744.jpeg | hg19 | G20475.EFO-27.2_MSH2_mini.zip | Open mini BAM in IGV |