Canonical Allele Identifier: CA1139663182

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 993097
• ClinVar RCV Id: RCV001284115
• dbSNP Id: rs2073021088

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9289del	ENSP00000434898.2:p.Cys3097ValfsTer7
ENST00000528762.2:c.*656del	ENSP00000433168.2:n.*656del
ENST00000530893.7:c.8920del	ENSP00000499438.2:p.Cys2974ValfsTer7
ENST00000665585.2:c.*851del	ENSP00000499570.2:n.*851del
ENST00000666593.2:c.*134del	ENSP00000499256.2:n.*134del
ENST00000700202.2:c.9238del	ENSP00000514856.2:p.Cys3080ValfsTer7
ENST00000700202.1:c.1705del	ENSP00000514856.1:p.Cys569ValfsTer7
ENST00000700203.1:n.1416del
ENST00000380152.8:c.9289del MANE Select	ENSP00000369497.3:p.Cys3097ValfsTer7
ENST00000544455.6:c.9289del	ENSP00000439902.1:p.Cys3097ValfsTer7
ENST00000614259.2:c.9297del	ENSP00000506251.1:n.9297del
ENST00000665585.1:c.2167del
ENST00000666593.1:c.311del	ENSP00000499256.1:n.311del
ENST00000680887.1:c.9289del	ENSP00000505508.1:p.Cys3097ValfsTer7
ENST00000380152.7:c.9289del	ENSP00000369497.3:p.Cys3097ValfsTer7
ENST00000470094.1:c.246del
ENST00000544455.5:c.9289del	ENSP00000439902.1:p.Cys3097ValfsTer7
NM_000059.3:c.9289del , LRG_293t1:c.9289del	NP_000050.2:p.Cys3097ValfsTer7
XM_011535203.1:c.9289del	XP_011533505.1:p.Cys3097ValfsTer7
XM_011535204.1:c.9193del	XP_011533506.1:p.Cys3065ValfsTer7
NM_000059.4:c.9289del MANE Select	NP_000050.3:p.Cys3097ValfsTer7