Before you start
For this exercise, it is most convenient to right-click this link and open a separate window for Mutalyzer. The exercise will use different Mutalyzer functionalities.
Description Extractor exercise How to generate the HGVS variant description from a reference sequence and an observed sequence.
Name Generator exercise How to generate complete sequence variant descriptions.
Name Checker exercise How to check complete sequence variant descriptions.
Syntax Checker exercise How to check the syntax of the complete sequence variant description.
Custom reference sequences
Reference File Loader exercise How to load and use your own reference sequence.
Position Converter exercise How to convert chromosomal positions to transcript orientated positions and vice versa.
SNP Converter exercise How to convert a dbSNP rsId to HGVS notation.
High-throughput and programmatic functionality
Batch Checkers exercise How to perform large quantities of checks using list of inputs.
Web services exercise How to programmatically access Mutalyzer 2 functionality via SOAP.
Mutalyzer's main functions can be selected from the index page or the list on the left side of any Mutalyzer window. For more information, please check the help file.
Although the correctness of Mutalyzer has been checked using complete sequence variation database contents, some changes might not be processed correctly. Please include screenshots and submitted information when reporting any strange results to:
You can use Mutalyzer's bugtracking system to report errors and send in feature requests.