Canonical Allele Identifier: CA2580087336

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2054631
• ClinVar RCV Id: RCV002909829

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394721_32394725dup , CM000675.2:g.32394721_32394725dup	GRCh38
NC_000013.10:g.32968858_32968862dup , CM000675.1:g.32968858_32968862dup	GRCh37
NC_000013.9:g.31866858_31866862dup	NCBI36
NG_012772.3:g.84242_84246dup , LRG_293:g.84242_84246dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9289_9293dup	ENSP00000434898.2:p.Asn3099ValfsTer7
ENST00000528762.2:c.*656_*660dup	ENSP00000433168.2:n.*656_*660dup
ENST00000530893.7:c.8920_8924dup	ENSP00000499438.2:p.Asn2976ValfsTer7
ENST00000665585.2:c.*851_*855dup	ENSP00000499570.2:n.*851_*855dup
ENST00000666593.2:c.*134_*138dup	ENSP00000499256.2:n.*134_*138dup
ENST00000700202.2:c.9238_9242dup	ENSP00000514856.2:p.Asn3082ValfsTer7
ENST00000700202.1:c.1705_1709dup	ENSP00000514856.1:p.Asn571ValfsTer7
ENST00000700203.1:n.1416_1420dup
ENST00000380152.8:c.9289_9293dup MANE Select	ENSP00000369497.3:p.Asn3099ValfsTer7
ENST00000544455.6:c.9289_9293dup	ENSP00000439902.1:p.Asn3099ValfsTer7
ENST00000614259.2:c.9297_9301dup	ENSP00000506251.1:n.9297_9301dup
ENST00000665585.1:c.2167_2171dup
ENST00000666593.1:c.311_315dup	ENSP00000499256.1:n.311_315dup
ENST00000680887.1:c.9289_9293dup	ENSP00000505508.1:p.Asn3099ValfsTer7
ENST00000380152.7:c.9289_9293dup	ENSP00000369497.3:p.Asn3099ValfsTer7
ENST00000470094.1:c.246_250dup
ENST00000544455.5:c.9289_9293dup	ENSP00000439902.1:p.Asn3099ValfsTer7
NM_000059.3:c.9289_9293dup , LRG_293t1:c.9289_9293dup	NP_000050.2:p.Asn3099ValfsTer7
XM_011535203.1:c.9289_9293dup	XP_011533505.1:p.Asn3099ValfsTer7
XM_011535204.1:c.9193_9197dup	XP_011533506.1:p.Asn3067ValfsTer7
NM_000059.4:c.9289_9293dup MANE Select	NP_000050.3:p.Asn3099ValfsTer7