Canonical Allele Identifier: CA10576077

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 225757
• ClinVar RCV Id: RCV000210979 ; RCV000567065 ; RCV001853398 ; RCV002478763
• dbSNP Id: rs869320801
• MyVariant Identifiers: chr13:g.32954051del (hg19) ; chr13:g.32379914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379914del , CM000675.2:g.32379914del	GRCh38
NC_000013.10:g.32954051del , CM000675.1:g.32954051del	GRCh37
NC_000013.9:g.31852051del	NCBI36
NG_012772.3:g.69435del , LRG_293:g.69435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9117+1del
ENST00000528762.2:c.*484+1del
ENST00000530893.7:c.8748+1del
ENST00000665585.2:c.*679+1del
ENST00000666593.2:c.9117+1del
ENST00000700202.2:c.9066+1del
ENST00000700202.1:c.1533+1del
ENST00000700203.1:n.1244+1del
ENST00000380152.8:c.9117+1del
ENST00000544455.6:c.9117+1del
ENST00000614259.2:c.9125+1del
ENST00000665585.1:c.1995+1del
ENST00000680887.1:c.9117+1del
ENST00000380152.7:c.9117+1del
ENST00000470094.1:c.74+1del
ENST00000544455.5:c.9117+1del
NM_000059.3:c.9117+1del , LRG_293t1:c.9117+1del
XM_011535203.1:c.9117+1del
XM_011535204.1:c.9021+1del
NM_000059.4:c.9117+1del