Canonical Allele Identifier: CA025059

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52320
• ClinVar RCV Id: RCV001857372 ; RCV002381333 ; RCV003473401
• dbSNP Id: rs397507915
• MyVariant Identifiers: chr13:g.32929399dupT (hg19) ; chr13:g.32355262dupT (hg38)
• PubMed: PMID:22970155 ; PMID:26824983

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355262dup , CM000675.2:g.32355262dup	GRCh38
NC_000013.10:g.32929399dup , CM000675.1:g.32929399dup	GRCh37
NC_000013.9:g.31827399dup	NCBI36
NG_012772.3:g.44783dup , LRG_293:g.44783dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7409dup	ENSP00000434898.2:p.Thr2471HisfsTer4
ENST00000528762.2:c.7409dup	ENSP00000433168.2:p.Thr2471HisfsTer4
ENST00000530893.7:c.7040dup	ENSP00000499438.2:p.Thr2348HisfsTer4
ENST00000665585.2:c.7409dup	ENSP00000499570.2:p.Thr2471HisfsTer4
ENST00000666593.2:c.7409dup	ENSP00000499256.2:p.Thr2471HisfsTer4
ENST00000700202.2:c.7409dup	ENSP00000514856.2:p.Thr2471HisfsTer4
ENST00000380152.8:c.7409dup MANE Select	ENSP00000369497.3:p.Thr2471HisfsTer4
ENST00000544455.6:c.7409dup	ENSP00000439902.1:p.Thr2471HisfsTer4
ENST00000614259.2:c.7409dup	ENSP00000506251.1:p.Thr2471HisfsTer4
ENST00000680887.1:c.7409dup	ENSP00000505508.1:p.Thr2471HisfsTer4
ENST00000380152.7:c.7409dup	ENSP00000369497.3:p.Thr2471HisfsTer4
ENST00000544455.5:c.7409dup	ENSP00000439902.1:p.Thr2471HisfsTer4
ENST00000614259.1:n.7409dup
NM_000059.3:c.7409dup , LRG_293t1:c.7409dup	NP_000050.2:p.Thr2471HisfsTer4
XM_011535203.1:c.7409dup	XP_011533505.1:p.Thr2471HisfsTer4
XM_011535204.1:c.7313dup	XP_011533506.1:p.Thr2439HisfsTer4
XM_011535205.1:c.7409dup	XP_011533507.1:p.Thr2471HisfsTer4
NM_000059.4:c.7409dup MANE Select	NP_000050.3:p.Thr2471HisfsTer4