Last modified January 14, 2013

NOTE: this website is frozen since May 1, 2016. It has been replaced by a new version at These pages serve as archival copy only.


The recommendations for the description of sequence variants are designed to be stable, meaningful, memorable and unequivocal. Still, every now and then small modifications will need to be made to remove small inconsistencies and/or to clarify confusing conventions. In addition, the recommendations may be extended to resolve cases that were hitherto not covered. To allow users to specify up to what point they follow the HGVS recommendations we have started to work with version numbers.

As of now, any change in the recommendations will get a new version number based on the date of the change. Both in the version list, and on the page giving details of the change, it will be clearly marked using a format like date 2012-08-31. The version of the HGVS recommendations including that change will be version 2.120831.

At the top of all pages on this site you will also find a Last modified date. This date indicates when the respective page was modified last. When this includes changes/extensions of the HGVS recommendation, the version number of the recommendation will also change. Note however that it often happens that simply a typing error was corrected, an example was added, an explanation was further clarified, a question answered, etc. In such cases the recommendations do not actually change and the version number will thus also not change.


Version 0  -  On the page "History regarding the description of sequence variants" we give an overview of all publications on the description of sequence variants. These papers can be considered as pre-versions of the first recommendations, a version 0.

Version 1  -  we consider the 2000 publication of den Dunnen JT and Antonarakis SE (Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum.Mutat. 15 (1): 7-12) as a more formal set of recommendations, i.e. version 1.

Version 2  -  We are currently preparing a new publication that will summarize the current HGVS recommendations. The most significant and latest changes for version 2.0 compared to version 1.0 include;

See the Version list for additional changes and the latest version number.

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| Recommendations:  DNARNAprotein, uncertain |
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| Example descriptions:  QuickRefDNARNAprotein |

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