The BRCA2 gene homepage

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
General information
Gene symbol BRCA2
Gene name breast cancer 2, early onset
Chromosome 13
Chromosomal band q12-q13
Imprinted Unknown
Genomic reference LRG_293
Transcript reference NM_000059.3
Exon/intron information NM_000059.3 exon/intron table
Associated with diseases BROVCA-2, cancer, breast, cancer, prostate, FANCD-1, GLM-3, MDB, PNCA-2, WT-1, cancer, breast, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Maaike Vreeswijk, Johan den Dunnen and Global Variome, with Curator vacancy
Total number of public variants reported 36361
Unique public DNA variants reported 7627
Individuals with public variants 154576
Hidden variants 2338
Notes All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium. We gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019).
Date created February 10, 2005
Date last updated March 17, 2021
Version BRCA2:210317

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000059.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Fanconi anemia mutation databases homepage (Rockefeller University)
Breast Cancer Mutation Data Base (BIC)
HGNC 1101
Entrez Gene 675
PubMed articles BRCA2
OMIM - Gene 600185
OMIM - Diseases BROVCA-2 (cancer, breast-ovarian, familial, susceptibility to, type 2 (BROVCA-2))
cancer, prostate
FANCD-1 (Fanconi anemia, complementation group D1 (FANCD-1))
GLM-3 (glioma, susceptibility, type 3 (GLM-3))
MDB (medulloblastoma (MDB))
PNCA-2 (cancer, pancreatic, susceptibility to, type 2 (PNCA-2))
WT-1 (Wilms tumor, type 1, somatic (WT-1, nephroblastoma))
cancer, breast, familial
GeneCards BRCA2
GeneTests BRCA2
Orphanet BRCA2

Active transcripts




NCBI ID     

NCBI Protein ID     

00003479 13 breast cancer 2, early onset NM_000059.3 NP_000050.2 36361

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2005-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.