MutSpliceDB: a database of Splice Sites Variants
Gene | CDKN2A |
Mutation | NM_000077.4:c.457+1G>A |
Allele registry ID | CA373085806 |
Effect | Intron inclusion between exons 2 & 3, or skipping end of exon 2 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
KNS-62 | G20493.KNS-62.2.bam | GDC/CCLE | KNS-62_CDKN2A_CA373085806.jpeg | hg19 | G20493.KNS-62.2_CDKN2A_mini.zip | Open mini BAM in IGV |