Canonical Allele Identifier: CA026052
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38225
ClinVar RCV Id: RCV000031808 RCV000045760 RCV000130780 RCV000195407 RCV000785231
dbSNP Id: rs80359752
gnomAD v2: 13-32954272-G-GA
gnomAD v4: 13-32380135-G-GA
COSMIC: COSM4666062 COSM4666063 COSM5520308 COSM5520309
MyVariant Identifiers: chr13:g.32954279dupA (hg19) chr13:g.32954272_32954273insA (hg19) chr13:g.32380142dupA (hg38) chr13:g.32380135_32380136insA (hg38)
PubMed: PMID:7627958 PMID:11389159 PMID:11802209 PMID:16455195 PMID:19656164 PMID:20104584 PMID:21952622 PMID:22798144 PMID:23569316 PMID:25863477 PMID:26287763 PMID:26295337 PMID:28008555
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380142dup , CM000675.2:g.32380142dup GRCh38
NC_000013.10:g.32954279dup , CM000675.1:g.32954279dup GRCh37
NC_000013.9:g.31852279dup NCBI36
NG_012772.3:g.69663dup , LRG_293:g.69663dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9253dup ENSP00000434898.2:p.Thr3085AsnfsTer26
ENST00000528762.2:c.*620dup ENSP00000433168.2:n.*620dup
ENST00000530893.7:c.8884dup ENSP00000499438.2:p.Thr2962AsnfsTer26
ENST00000665585.2:c.*815dup ENSP00000499570.2:n.*815dup
ENST00000666593.2:c.9253dup ENSP00000499256.2:p.Thr3085AsnfsTer?
ENST00000700202.2:c.9202dup ENSP00000514856.2:p.Thr3068AsnfsTer26
ENST00000700202.1:c.1669dup ENSP00000514856.1:p.Thr557AsnfsTer26
ENST00000700203.1:n.1380dup
ENST00000380152.8:c.9253dup MANE Select ENSP00000369497.3:p.Thr3085AsnfsTer26
ENST00000544455.6:c.9253dup ENSP00000439902.1:p.Thr3085AsnfsTer26
ENST00000614259.2:c.9261dup ENSP00000506251.1:n.9261dup
ENST00000665585.1:c.2131dup
ENST00000666593.1:c.136dup ENSP00000499256.1:p.Thr46AsnfsTer?
ENST00000680887.1:c.9253dup ENSP00000505508.1:p.Thr3085AsnfsTer26
ENST00000380152.7:c.9253dup ENSP00000369497.3:p.Thr3085AsnfsTer26
ENST00000470094.1:c.210dup
ENST00000544455.5:c.9253dup ENSP00000439902.1:p.Thr3085AsnfsTer26
NM_000059.3:c.9253dup , LRG_293t1:c.9253dup NP_000050.2:p.Thr3085AsnfsTer26
XM_011535203.1:c.9253dup XP_011533505.1:p.Thr3085AsnfsTer26
XM_011535204.1:c.9157dup XP_011533506.1:p.Thr3053AsnfsTer26
NM_000059.4:c.9253dup MANE Select NP_000050.3:p.Thr3085AsnfsTer26
Search 100 bp 5'
Search 100 bp 3'