Canonical Allele Identifier: CA913188612

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 667416
• ClinVar RCV Id: RCV000826190 ; RCV003307568 ; RCV003473523 ; RCV002293492
• dbSNP Id: rs1593201815

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398290del , CM000675.2:g.32398290del	GRCh38
NC_000013.10:g.32972427del , CM000675.1:g.32972427del	GRCh37
NC_000013.9:g.31870427del	NCBI36
NG_012772.3:g.87811del , LRG_293:g.87811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*300del	ENSP00000434898.2:n.*300del
ENST00000528762.2:c.*1144del	ENSP00000433168.2:n.*1144del
ENST00000530893.7:c.9408del	ENSP00000499438.2:p.Ile3136MetfsTer16
ENST00000665585.2:c.*1339del	ENSP00000499570.2:n.*1339del
ENST00000700202.2:c.9726del	ENSP00000514856.2:p.Ile3242MetfsTer16
ENST00000700202.1:c.2193del	ENSP00000514856.1:p.Ile731MetfsTer16
ENST00000700203.1:n.1904del
ENST00000380152.8:c.9777del MANE Select	ENSP00000369497.3:p.Ile3259MetfsTer16
ENST00000544455.6:c.9777del	ENSP00000439902.1:p.Ile3259MetfsTer16
ENST00000614259.2:c.9785del	ENSP00000506251.1:n.9785del
ENST00000680887.1:c.9777del	ENSP00000505508.1:p.Ile3259MetfsTer16
ENST00000380152.7:c.9777del	ENSP00000369497.3:p.Ile3259MetfsTer16
ENST00000533776.1:n.365del
ENST00000544455.5:c.9777del	ENSP00000439902.1:p.Ile3259MetfsTer16
NM_000059.3:c.9777del , LRG_293t1:c.9777del	NP_000050.2:p.Ile3259MetfsTer16
XM_011535203.1:c.9777del	XP_011533505.1:p.Ile3259MetfsTer16
XM_011535204.1:c.9681del	XP_011533506.1:p.Ile3227MetfsTer16
NM_000059.4:c.9777del MANE Select	NP_000050.3:p.Ile3259MetfsTer16