MutSpliceDB: a database of Splice Sites Variants
Gene | CDKN2A |
Mutation | NM_000077.4:c.457+2T>C |
Allele registry ID | CA373085801 |
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 |
---|---|---|---|---|---|---|
Hs 766T | G26233.Hs_766T.2.bam | GDC/CCLE | Hs766T_CDKN2A_CA373085801.jpeg | hg19 | G26233.Hs_766T.2_CDKN2A_mini.zip | Open mini BAM in IGV |
HSC-2 | G28896.HSC-2.3.bam | GDC/CCLE | HSC-2_CDKN2A_CA373085801.jpeg | hg19 | G28896.HSC-2.3_CDKN2A_mini.zip | Open mini BAM in IGV |