MutSpliceDB: a database of Splice Sites Variants
Gene | MSH2 |
Mutation | NM_000251.2:c.2211-1G>A |
Allele registry ID | CA346729646 |
Effect | Intron inclusion between exons 13 & 14 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
JHUEM-1 | G41715.JHUEM-1.5.bam | GDC/CCLE | JHUEM-1_MSH2_CA346729646.jpeg | hg19 | G41715.JHUEM-1.5_MSH2_mini.zip | Open mini BAM in IGV |