Canonical Allele Identifier: CA2740097650

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2998939
• ClinVar RCV Id: RCV003859586

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398318dup , CM000675.2:g.32398318dup	GRCh38
NC_000013.10:g.32972455dup , CM000675.1:g.32972455dup	GRCh37
NC_000013.9:g.31870455dup	NCBI36
NG_012772.3:g.87839dup , LRG_293:g.87839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*328dup	ENSP00000434898.2:n.*328dup
ENST00000528762.2:c.*1172dup	ENSP00000433168.2:n.*1172dup
ENST00000530893.7:c.9436dup	ENSP00000499438.2:p.Arg3146LysfsTer8
ENST00000665585.2:c.*1367dup	ENSP00000499570.2:n.*1367dup
ENST00000700202.2:c.9754dup	ENSP00000514856.2:p.Arg3252LysfsTer8
ENST00000700202.1:c.2221dup	ENSP00000514856.1:p.Arg741LysfsTer8
ENST00000700203.1:n.1932dup
ENST00000380152.8:c.9805dup MANE Select	ENSP00000369497.3:p.Arg3269LysfsTer8
ENST00000544455.6:c.9805dup	ENSP00000439902.1:p.Arg3269LysfsTer8
ENST00000614259.2:c.9813dup	ENSP00000506251.1:n.9813dup
ENST00000680887.1:c.9805dup	ENSP00000505508.1:p.Arg3269LysfsTer8
ENST00000380152.7:c.9805dup	ENSP00000369497.3:p.Arg3269LysfsTer8
ENST00000533776.1:n.393dup
ENST00000544455.5:c.9805dup	ENSP00000439902.1:p.Arg3269LysfsTer8
NM_000059.3:c.9805dup , LRG_293t1:c.9805dup	NP_000050.2:p.Arg3269LysfsTer8
XM_011535203.1:c.9805dup	XP_011533505.1:p.Arg3269LysfsTer8
XM_011535204.1:c.9709dup	XP_011533506.1:p.Arg3237LysfsTer8
NM_000059.4:c.9805dup MANE Select	NP_000050.3:p.Arg3269LysfsTer8