Canonical Allele Identifier: CA165073

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141309
• ClinVar RCV Id: RCV000129779
• dbSNP Id: rs587781648
• MyVariant Identifiers: chr13:g.32968821_32968847del (hg19) ; chr13:g.32394684_32394710del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394684_32394710del , CM000675.2:g.32394684_32394710del	GRCh38
NC_000013.10:g.32968821_32968847del , CM000675.1:g.32968821_32968847del	GRCh37
NC_000013.9:g.31866821_31866847del	NCBI36
NG_012772.3:g.84205_84231del , LRG_293:g.84205_84231del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9257-5_9278del
ENST00000528762.2:c.*624-5_*645del
ENST00000530893.7:c.8888-5_8909del
ENST00000665585.2:c.*819-5_*840del
ENST00000666593.2:c.*102-5_*123del
ENST00000700202.2:c.9206-5_9227del
ENST00000700202.1:c.1673-5_1694del
ENST00000700203.1:n.1384-5_1405del
ENST00000380152.8:c.9257-5_9278del
ENST00000544455.6:c.9257-5_9278del
ENST00000614259.2:c.9265-5_9286del
ENST00000665585.1:c.2135-5_2156del
ENST00000666593.1:c.279-5_300del
ENST00000680887.1:c.9257-5_9278del
ENST00000380152.7:c.9257-5_9278del
ENST00000470094.1:c.214-5_235del
ENST00000544455.5:c.9257-5_9278del
NM_000059.3:c.9257-5_9278del , LRG_293t1:c.9257-5_9278del
XM_011535203.1:c.9257-5_9278del
XM_011535204.1:c.9161-5_9182del
NM_000059.4:c.9257-5_9278del