Canonical Allele Identifier: CA1139663183

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 988396
• ClinVar RCV Id: RCV001269732 ; RCV003493837
• dbSNP Id: rs2073021354

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394734del , CM000675.2:g.32394734del	GRCh38
NC_000013.10:g.32968871del , CM000675.1:g.32968871del	GRCh37
NC_000013.9:g.31866871del	NCBI36
NG_012772.3:g.84255del , LRG_293:g.84255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9302del	ENSP00000434898.2:p.Leu3101ArgfsTer3
ENST00000528762.2:c.*669del	ENSP00000433168.2:n.*669del
ENST00000530893.7:c.8933del	ENSP00000499438.2:p.Leu2978ArgfsTer3
ENST00000665585.2:c.*864del	ENSP00000499570.2:n.*864del
ENST00000666593.2:c.*147del	ENSP00000499256.2:n.*147del
ENST00000700202.2:c.9251del	ENSP00000514856.2:p.Leu3084ArgfsTer3
ENST00000700202.1:c.1718del	ENSP00000514856.1:p.Leu573ArgfsTer3
ENST00000700203.1:n.1429del
ENST00000380152.8:c.9302del MANE Select	ENSP00000369497.3:p.Leu3101ArgfsTer3
ENST00000544455.6:c.9302del	ENSP00000439902.1:p.Leu3101ArgfsTer3
ENST00000614259.2:c.9310del	ENSP00000506251.1:n.9310del
ENST00000665585.1:c.2180del
ENST00000666593.1:c.324del	ENSP00000499256.1:n.324del
ENST00000680887.1:c.9302del	ENSP00000505508.1:p.Leu3101ArgfsTer3
ENST00000380152.7:c.9302del	ENSP00000369497.3:p.Leu3101ArgfsTer3
ENST00000470094.1:c.259del
ENST00000544455.5:c.9302del	ENSP00000439902.1:p.Leu3101ArgfsTer3
NM_000059.3:c.9302del , LRG_293t1:c.9302del	NP_000050.2:p.Leu3101ArgfsTer3
XM_011535203.1:c.9302del	XP_011533505.1:p.Leu3101ArgfsTer3
XM_011535204.1:c.9206del	XP_011533506.1:p.Leu3069ArgfsTer3
NM_000059.4:c.9302del MANE Select	NP_000050.3:p.Leu3101ArgfsTer3