Canonical Allele Identifier: CA025592

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52558
• ClinVar RCV Id: RCV000577036 ; RCV000661877
• dbSNP Id: rs397507980
• MyVariant Identifiers: chr13:g.32944555dupC (hg19) ; chr13:g.32370418dupC (hg38)
• PubMed: PMID:17018160

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370418dup , CM000675.2:g.32370418dup	GRCh38
NC_000013.10:g.32944555dup , CM000675.1:g.32944555dup	GRCh37
NC_000013.9:g.31842555dup	NCBI36
NG_012772.3:g.59939dup , LRG_293:g.59939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8348dup	ENSP00000434898.2:p.Arg2784SerfsTer14
ENST00000528762.2:c.8348dup	ENSP00000433168.2:p.Arg2784SerfsTer14
ENST00000530893.7:c.7979dup	ENSP00000499438.2:p.Arg2661SerfsTer14
ENST00000665585.2:c.8348dup	ENSP00000499570.2:p.Arg2784SerfsTer14
ENST00000666593.2:c.8348dup	ENSP00000499256.2:p.Arg2784SerfsTer14
ENST00000700202.2:c.8348dup	ENSP00000514856.2:p.Arg2784SerfsTer14
ENST00000700202.1:c.815dup	ENSP00000514856.1:p.Arg273SerfsTer14
ENST00000380152.8:c.8348dup MANE Select	ENSP00000369497.3:p.Arg2784SerfsTer14
ENST00000544455.6:c.8348dup	ENSP00000439902.1:p.Arg2784SerfsTer14
ENST00000614259.2:c.8356dup	ENSP00000506251.1:n.8356dup
ENST00000665585.1:c.913dup
ENST00000680887.1:c.8348dup	ENSP00000505508.1:p.Arg2784SerfsTer14
ENST00000380152.7:c.8348dup	ENSP00000369497.3:p.Arg2784SerfsTer14
ENST00000544455.5:c.8348dup	ENSP00000439902.1:p.Arg2784SerfsTer14
NM_000059.3:c.8348dup , LRG_293t1:c.8348dup	NP_000050.2:p.Arg2784SerfsTer14
XM_011535203.1:c.8348dup	XP_011533505.1:p.Arg2784SerfsTer14
XM_011535204.1:c.8252dup	XP_011533506.1:p.Arg2752SerfsTer14
XM_011535205.1:c.8348dup	XP_011533507.1:p.Arg2784SerfsTer14
NM_000059.4:c.8348dup MANE Select	NP_000050.3:p.Arg2784SerfsTer14