Canonical Allele Identifier: CA10602513

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267656
• ClinVar RCV Id: RCV000258174 ; RCV001025552
• dbSNP Id: rs886040931
• MyVariant Identifiers: chr13:g.32890665del (hg19) ; chr13:g.32316528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316528del , CM000675.2:g.32316528del	GRCh38
NC_000013.10:g.32890665del , CM000675.1:g.32890665del	GRCh37
NC_000013.9:g.31788665del	NCBI36
NG_012772.3:g.6049del , LRG_293:g.6049del
NG_017006.1:g.428del
NG_017006.2:g.3837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.67+1del
ENST00000528762.2:c.67+1del
ENST00000530893.7:c.-303+5del	ENSP00000499438.2:n.-303+5del
ENST00000665585.2:c.67+1del
ENST00000666593.2:c.67+1del
ENST00000700202.2:c.67+1del
ENST00000700199.1:n.192del
ENST00000700200.1:n.191+1del
ENST00000700201.1:c.67+1del
ENST00000380152.8:c.67+1del
ENST00000544455.6:c.67+1del
ENST00000614259.2:c.67+1del
ENST00000680887.1:c.67+1del
ENST00000380152.7:c.67+1del
ENST00000530893.6:n.265+5del
ENST00000544455.5:c.67+1del
ENST00000614259.1:n.67+1del
NM_000059.3:c.67+1del , LRG_293t1:c.67+1del
XM_011535203.1:c.67+1del
XM_011535204.1:c.67+1del
XM_011535205.1:c.67+1del
NM_000059.4:c.67+1del