Canonical Allele Identifier: CA658761186

Gene: BRCA2

Linked Data

• PubMed: PMID:17018160

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398284del , CM000675.2:g.32398284del	GRCh38
NC_000013.10:g.32972421del , CM000675.1:g.32972421del	GRCh37
NC_000013.9:g.31870421del	NCBI36
NG_012772.3:g.87805del , LRG_293:g.87805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*294del	ENSP00000434898.2:n.*294del
ENST00000528762.2:c.*1138del	ENSP00000433168.2:n.*1138del
ENST00000530893.7:c.9402del	ENSP00000499438.2:p.Glu3135ArgfsTer17
ENST00000665585.2:c.*1333del	ENSP00000499570.2:n.*1333del
ENST00000700202.2:c.9720del	ENSP00000514856.2:p.Glu3241ArgfsTer17
ENST00000700202.1:c.2187del	ENSP00000514856.1:p.Glu730ArgfsTer17
ENST00000700203.1:n.1898del
ENST00000380152.8:c.9771del MANE Select	ENSP00000369497.3:p.Glu3258ArgfsTer17
ENST00000544455.6:c.9771del	ENSP00000439902.1:p.Glu3258ArgfsTer17
ENST00000614259.2:c.9779del	ENSP00000506251.1:n.9779del
ENST00000680887.1:c.9771del	ENSP00000505508.1:p.Glu3258ArgfsTer17
ENST00000380152.7:c.9771del	ENSP00000369497.3:p.Glu3258ArgfsTer17
ENST00000533776.1:n.359del
ENST00000544455.5:c.9771del	ENSP00000439902.1:p.Glu3258ArgfsTer17
NM_000059.3:c.9771del , LRG_293t1:c.9771del	NP_000050.2:p.Glu3258ArgfsTer17
XM_011535203.1:c.9771del	XP_011533505.1:p.Glu3258ArgfsTer17
XM_011535204.1:c.9675del	XP_011533506.1:p.Glu3226ArgfsTer17
NM_000059.4:c.9771del MANE Select	NP_000050.3:p.Glu3258ArgfsTer17