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TransVar is a versatile annotator for 3-way conversion and annotation among genomic characterization(s) of mutations (e.g., chr3:g.178936091G>A) and transcript-dependent annotation(s) (e.g., PIK3CA:p.E545K or PIK3CA:c.1633G>A, or NM_006218.2:p.E545K, or NP_006266.2:p.G240Afs*50). It is particularly designed with the functionality of resolving ambiguous mutation annotations arising from differential transcript usage. TransVar keeps awareness of the underlying unknown transcript structure (exon boundary, reference amino acid/base) while performing reverse annotation (via fuzzy matching from protein level to cDNA level).

Download and Install

Quick Start

Setup and customize TransVar

Annotation From Protein Level

Annotation From cDNA Level

Annotation From Genomic Level

FAQ

News and Features

Bug report and feature request

Bug reports are always welcomed at the issue tracker. One could also send an email to [email protected].

Reference

Zhou et al. Nature Methods 12, 1002-1003 (2015)