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 BROVCA2, cancer, breast, cancer, breast, cancer, prostate, FANCD1, GLM3, MDB, PNCA2, WT1
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 40389
Unique public DNA variants reported 8354
Individuals with public variants 218971
Hidden variants 2339
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 November 27, 2023
Version BRCA2:231127

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 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 BROVCA2 (cancer, breast-ovarian, familial, susceptibility to, type 2 (BROVCA-2))
cancer, breast (cancer, breast, susceptibility)
cancer, prostate
FANCD1 (Fanconi anemia, complementation group D1 (FANCD-1))
GLM3 (glioma, susceptibility, type 3 (GLM-3))
MDB (medulloblastoma (MDB))
PNCA2 (cancer, pancreatic, susceptibility to, type 2 (PNCA-2))
WT1 (Wilms tumor, type 1, somatic (WT-1, nephroblastoma))
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 40389

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2005-2023. 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.

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