Canonical Allele Identifier: CA915948608

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 822709
• ClinVar RCV Id: RCV001018278 ; RCV003316821
• dbSNP Id: rs1593936490

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379316_32379338dup , CM000675.2:g.32379316_32379338dup	GRCh38
NC_000013.10:g.32953453_32953475dup , CM000675.1:g.32953453_32953475dup	GRCh37
NC_000013.9:g.31851453_31851475dup	NCBI36
NG_012772.3:g.68837_68859dup , LRG_293:g.68837_68859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8755-1_8776dup
ENST00000528762.2:c.*122-1_*143dup
ENST00000530893.7:c.8386-1_8407dup
ENST00000665585.2:c.*317-1_*338dup
ENST00000666593.2:c.8755-1_8776dup
ENST00000700202.2:c.8755-1_8776dup
ENST00000700202.1:c.1222-1_1243dup
ENST00000700203.1:n.882-1_903dup
ENST00000380152.8:c.8755-1_8776dup
ENST00000544455.6:c.8755-1_8776dup
ENST00000614259.2:c.8763-1_8784dup
ENST00000665585.1:c.1633-1_1654dup
ENST00000680887.1:c.8755-1_8776dup
ENST00000380152.7:c.8755-1_8776dup
ENST00000528762.1:c.317-1_338dup
ENST00000544455.5:c.8755-1_8776dup
NM_000059.3:c.8755-1_8776dup , LRG_293t1:c.8755-1_8776dup
XM_011535203.1:c.8755-1_8776dup
XM_011535204.1:c.8659-1_8680dup
XM_011535205.1:c.8755-434_8755-412dup	XP_011533507.1:n.8755-434_8755-412dup
NM_000059.4:c.8755-1_8776dup