Mutalyzer 2 is no longer supported and access to it will be provided only for a limited amount of time.
Please switch to Mutalyzer 3 !
The aim of this program suite is to support checks of Sequence Variant Nomenclature according to the guidelines of the Human Genome Variation Society.
The Name Checker takes the complete sequence variant description as input and checks whether it is correct.
Examples:
AB026906.1:c.40_42del,
NG_012337.1(SDHD_v001):c.274G>T,
LRG_24t1:c.159dup
Takes the complete sequence variant description as input and checks whether the syntax is correct.
Converts chromosomal positions to transcript orientated positions and vice versa.
Allows you to convert a dbSNP rsId to HGVS notation.
A user friendly interface that helps to make a valid HGVS variant description.
Allows you to generate the HGVS variant description from a reference sequence and an observed sequence.
Allows you to load and use your own reference sequence.
Interfaces accepting a list of inputs that can be used for large quantities of checks.
Provides instructions for the web services.
GenBank sequences are retrieved via NCBI Entrez (Data Usage Policies and Disclaimers).
LRG sequences are retrieved from the Locus Reference Genomic FTP site (EMBL-EBI Terms of Use).
The NCBI Map Viewer data and EBI LRG transcripts map files are the primary sources for transcript mappings, with a selection of transcript mappings from the UCSC Genome Browser MySQL database manually added on a per-gene basis.