Canonical Allele Identifier: CA2580087441

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2021274
• ClinVar RCV Id: RCV002862530
• gnomAD v4: 13-32398207-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398210del , CM000675.2:g.32398210del	GRCh38
NC_000013.10:g.32972347del , CM000675.1:g.32972347del	GRCh37
NC_000013.9:g.31870347del	NCBI36
NG_012772.3:g.87731del , LRG_293:g.87731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*220del	ENSP00000434898.2:n.*220del
ENST00000528762.2:c.*1064del	ENSP00000433168.2:n.*1064del
ENST00000530893.7:c.9328del	ENSP00000499438.2:p.Cys3110ValfsTer16
ENST00000665585.2:c.*1259del	ENSP00000499570.2:n.*1259del
ENST00000700202.2:c.9646del	ENSP00000514856.2:p.Cys3216ValfsTer16
ENST00000700202.1:c.2113del	ENSP00000514856.1:p.Cys705ValfsTer16
ENST00000700203.1:n.1824del
ENST00000380152.8:c.9697del MANE Select	ENSP00000369497.3:p.Cys3233ValfsTer16
ENST00000544455.6:c.9697del	ENSP00000439902.1:p.Cys3233ValfsTer16
ENST00000614259.2:c.9705del	ENSP00000506251.1:n.9705del
ENST00000665585.1:c.2575del
ENST00000680887.1:c.9697del	ENSP00000505508.1:p.Cys3233ValfsTer16
ENST00000380152.7:c.9697del	ENSP00000369497.3:p.Cys3233ValfsTer16
ENST00000470094.1:c.780del
ENST00000533776.1:n.285del
ENST00000544455.5:c.9697del	ENSP00000439902.1:p.Cys3233ValfsTer16
NM_000059.3:c.9697del , LRG_293t1:c.9697del	NP_000050.2:p.Cys3233ValfsTer16
XM_011535203.1:c.9697del	XP_011533505.1:p.Cys3233ValfsTer16
XM_011535204.1:c.9601del	XP_011533506.1:p.Cys3201ValfsTer16
NM_000059.4:c.9697del MANE Select	NP_000050.3:p.Cys3233ValfsTer16