Canonical Allele Identifier: CA2580087500

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1765855
• ClinVar RCV Id: RCV002378684

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379912_32379917del , CM000675.2:g.32379912_32379917del	GRCh38
NC_000013.10:g.32954049_32954054del , CM000675.1:g.32954049_32954054del	GRCh37
NC_000013.9:g.31852049_31852054del	NCBI36
NG_012772.3:g.69433_69438del , LRG_293:g.69433_69438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9116_9117+4del
ENST00000528762.2:c.*483_*484+4del
ENST00000530893.7:c.8747_8748+4del
ENST00000665585.2:c.*678_*679+4del
ENST00000666593.2:c.9116_9117+4del
ENST00000700202.2:c.9065_9066+4del
ENST00000700202.1:c.1532_1533+4del
ENST00000700203.1:n.1243_1244+4del
ENST00000380152.8:c.9116_9117+4del
ENST00000544455.6:c.9116_9117+4del
ENST00000614259.2:c.9124_9125+4del
ENST00000665585.1:c.1994_1995+4del
ENST00000680887.1:c.9116_9117+4del
ENST00000380152.7:c.9116_9117+4del
ENST00000470094.1:c.73_74+4del
ENST00000544455.5:c.9116_9117+4del
NM_000059.3:c.9116_9117+4del , LRG_293t1:c.9116_9117+4del
XM_011535203.1:c.9116_9117+4del
XM_011535204.1:c.9020_9021+4del
NM_000059.4:c.9116_9117+4del