Canonical Allele Identifier: CA019585

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51604
• ClinVar RCV Id: RCV000113278 ; RCV001021930 ; RCV001382678
• dbSNP Id: rs80359431
• MyVariant Identifiers: chr13:g.32912629_32912633del (hg19) ; chr13:g.32338492_32338496del (hg38)
• PubMed: PMID:21702907

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338492_32338496del , CM000675.2:g.32338492_32338496del	GRCh38
NC_000013.10:g.32912629_32912633del , CM000675.1:g.32912629_32912633del	GRCh37
NC_000013.9:g.31810629_31810633del	NCBI36
NG_012772.3:g.28013_28017del , LRG_293:g.28013_28017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4137_4141del	ENSP00000434898.2:p.Ile1380ArgfsTer21
ENST00000528762.2:c.4137_4141del	ENSP00000433168.2:p.Ile1380ArgfsTer21
ENST00000530893.7:c.3768_3772del	ENSP00000499438.2:p.Ile1257ArgfsTer21
ENST00000665585.2:c.4137_4141del	ENSP00000499570.2:p.Ile1380ArgfsTer21
ENST00000666593.2:c.4137_4141del	ENSP00000499256.2:p.Ile1380ArgfsTer21
ENST00000700202.2:c.4137_4141del	ENSP00000514856.2:p.Ile1380ArgfsTer21
ENST00000380152.8:c.4137_4141del MANE Select	ENSP00000369497.3:p.Ile1380ArgfsTer21
ENST00000544455.6:c.4137_4141del	ENSP00000439902.1:p.Ile1380ArgfsTer21
ENST00000614259.2:c.4137_4141del	ENSP00000506251.1:p.Ile1380ArgfsTer21
ENST00000680887.1:c.4137_4141del	ENSP00000505508.1:p.Ile1380ArgfsTer21
ENST00000380152.7:c.4137_4141del	ENSP00000369497.3:p.Ile1380ArgfsTer21
ENST00000544455.5:c.4137_4141del	ENSP00000439902.1:p.Ile1380ArgfsTer21
ENST00000614259.1:n.4137_4141del
NM_000059.3:c.4137_4141del , LRG_293t1:c.4137_4141del	NP_000050.2:p.Ile1380ArgfsTer21
XM_011535203.1:c.4137_4141del	XP_011533505.1:p.Ile1380ArgfsTer21
XM_011535204.1:c.4137_4141del	XP_011533506.1:p.Ile1380ArgfsTer21
XM_011535205.1:c.4137_4141del	XP_011533507.1:p.Ile1380ArgfsTer21
NM_000059.4:c.4137_4141del MANE Select	NP_000050.3:p.Ile1380ArgfsTer21