The material therein is provided on an “as is” basis only and without warranty or representation (whether express or implied) as to its accuracy or reliability. Anyone who uses the translators assumes responsibility for the result and their use. The translators are based on current scientific knowledge and are subject to change. Neither the authors nor any funders are responsible for, or accept liability for, any direct or indirect loss or damages arising from or connected to the use of the information.
For a service option for any of these tools or other versions of translators (different haplotype sets, tailoring for a specific platform), please contact us via this page.
CYP2D6 Haplotype Translators
CYP2D6 Haplotype Translator
Two different translators permit derivation of CYP2D6*2-*12 (including the *5 gene deletion), *14, *15, *17, *29, *35, *41, and gene duplication, and other haplotypes of known function (*20, *39.001, *39.002, *69, *114) and sub-haplotypes (*1.011, *2.001/*2.005/*2.012/*2.013/*2.018/*2.020/*2.021, *2.004, *4.002, *4.012, *6.003, *12.001, *12.002), hybrid haplotypes (*4.013, two specific *13s (EU093102 previously known as *66, and GQ162807 previously known as *77), *36, *57, *61, *63, *68, and *83) and hybrid tandems (*4.013+*4, *4.013x2+*4, *4.013+*4x2, *4.013x2+*4x2, *36+*10, *36+*10x2, *36x2+*10,*36x2+*10x2).
We also provide another two versions of the translators in which *70 (classified as uncertain function by PharmVar) or *107 (unknown function) replace a *39 haplotype.
Multiple different CYP2D6 haplotype translators are provided owing to the AlleleTyper software having a limit on the number of haplotypes that it can process in a given translator.
This tool does NOT identify which haplotype is present in more than one copy for CYP2D6 data that are heterozygous and of total CYP2D6 gene copy number of at least 3.
In the Setup tab, import a CYP2D6 Haplotype Translator (mono-allelic).
In the Data tab, import the data files. Note that your data will need to be formatted like the example data on the Figshare page.
In the Results tab, export your data as a CSV file: - Summary Report: Select Summary and click Export. - Detailed Report: Select Detailed and click Export. This includes a "notes" column with details on any unavailable genotypes (haplotype "translation").
[Optional] Open in Excel, save in a different format, and password-protect if desired.
CYP2C19 Haplotype Translators
CYP2C19 Translator for 10 SNPs
Haplotype Translator for 10 CYP2C19 SNPs, with example data.
This translator covers the following CYP2C19 haplotypes: *2, *3, *4, *4.002, *5, *6, *7, *9, *10, *17, and *35.
Haplotype Translator for 11 CYP2C19 SNPs, with example data.
The translator included here was developed in the Aitchison lab to identify common haplotypes of the CYP2C19 gene, including: CYP2C19*2-*10, and *17. Additionally, subhaplotypes *2.002/*2.010/*2.012, and *4.002 may be derived.
In the Setup tab, import a CYP2C19 Haplotype Translator (mono-allelic).
In the Data tab, import the data files. Note that your data will need to be formatted like the example data on the Figshare page.
In the Results tab, export your data as a CSV file: - Summary Report: Select Summary and click Export. - Detailed Report: Select Detailed and click Export. This includes a "notes" column with details on any unavailable genotypes (haplotype "translation").
[Optional] Open in Excel, save in a different format, and password-protect if desired.
The datasets provide the SNV output for CYP2D6 and CYP2C19 and copy number data for CYP2D6 (adjusted where indicated) for 95 samples genotyped in two batches as described in the paper, Carvalho Henriques et al. Methodology for clinical genotyping of CYP2D6 and CYP2C19. Transl Psychiatry 11, 596 (2021).
For a service option for any of these tools or other versions of translators (different haplotype sets, tailoring for a specific platform), please contact us via this page.
Automated Tools (For Licensing)
DigHap HapTranslator™ software
- Automated CYP2D6 Haplotype Phasing Tool for Duplications / Multiplications
DigHap HapTranslator™ software is an automated tool that translates raw data from VeriDose® Core Panel with VeriDose® CYP2D6 CNV Panel (Targeted Genomic Testing Panels - Agena Bioscience) into genotypes that includes identifying which haplotype is present in more than one copy. This software is currently available as a standalone Windows app.
