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Announcement: Mutalyzer goes Open Source

Mutalyzer 2.0.beta-31
released on 27 Mar 2014

HGVS nomenclature version 2.0

Welcome to the Mutalyzer web site


The aim of this program suite is to support checks of sequence variant nomenclature according to the guidelines of the Human Genome Variation Society.


Different interfaces are provided to collect the information necessary for the checks:
  • The Name Checker takes the complete sequence variant description as input and checks whether it is correct.
  • The Syntax Checker takes the complete sequence variant description as input and checks whether the syntax is correct.
  • The Position Converter can convert chromosomal positions to transcript orientated positions and vice versa.
  • The SNP converter allows you to convert a dbSNP rsId to HGVS notation.
  • The Name Generator is a user friendly interface that helps to make a valid HGVS variant description.
  • The Description Extractor allows you to generate the HGVS variant description from a reference sequence and an observed sequence.
  • The Reference File Loader allows you to load and use your own reference sequence.
  • The Batch Checkers are interfaces that accept a list of inputs. These interfaces can be used for large quantities of checks.
  • The Web services page provides instructions for the web services.

GenBank sequences are retrieved from the NCBI (Copyright and Disclaimers).
This project is sponsored by SUN Microsystems with server hardware within the scope of the Academic Excellence Grant (AEG) program (award EDUD-7832-080223-CNE).
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