Canonical Allele Identifier: CA2580086925
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1728430
ClinVar RCV Id: RCV002322633

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32324894_32328983dup , CM000675.2:g.32324894_32328983dup GRCh38
NC_000013.10:g.32899031_32903120dup , CM000675.1:g.32899031_32903120dup GRCh37
NC_000013.9:g.31797031_31801120dup NCBI36
NG_012772.3:g.14415_18504dup , LRG_293:g.14415_18504dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.317-182_632-460dup
ENST00000528762.2:c.317-182_632-460dup
ENST00000530893.7:c.-53-182_263-460dup
ENST00000665585.2:c.317-182_632-460dup
ENST00000666593.2:c.317-182_632-460dup
ENST00000700202.2:c.317-182_632-460dup
ENST00000700201.1:c.*95+68_*411-460dup
ENST00000380152.8:c.317-182_632-460dup
ENST00000544455.6:c.317-182_632-460dup
ENST00000614259.2:c.317-182_632-460dup
ENST00000680887.1:c.317-182_632-460dup
ENST00000380152.7:c.317-182_632-460dup
ENST00000530893.6:n.515-182_830-460dup
ENST00000544455.5:c.317-182_632-460dup
ENST00000614259.1:n.317-182_632-460dup
NM_000059.3:c.317-182_632-460dup , LRG_293t1:c.317-182_632-460dup
XM_011535203.1:c.317-182_632-460dup
XM_011535204.1:c.317-182_632-460dup
XM_011535205.1:c.317-182_632-460dup
NM_000059.4:c.317-182_632-460dup