Canonical Allele Identifier: CA165137

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141334
• ClinVar RCV Id: RCV000129816 ; RCV000241530
• dbSNP Id: rs587781665
• MyVariant Identifiers: chr13:g.32936709dupT (hg19) ; chr13:g.32362572dupT (hg38)
• PubMed: PMID:15342457

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362572dup , CM000675.2:g.32362572dup	GRCh38
NC_000013.10:g.32936709dup , CM000675.1:g.32936709dup	GRCh37
NC_000013.9:g.31834709dup	NCBI36
NG_012772.3:g.52093dup , LRG_293:g.52093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7855dup	ENSP00000434898.2:p.Trp2619LeufsTer4
ENST00000528762.2:c.7855dup	ENSP00000433168.2:p.Trp2619LeufsTer4
ENST00000530893.7:c.7486dup	ENSP00000499438.2:p.Trp2496LeufsTer4
ENST00000665585.2:c.7855dup	ENSP00000499570.2:p.Trp2619LeufsTer4
ENST00000666593.2:c.7855dup	ENSP00000499256.2:p.Trp2619LeufsTer4
ENST00000700202.2:c.7855dup	ENSP00000514856.2:p.Trp2619LeufsTer4
ENST00000700202.1:c.322dup	ENSP00000514856.1:p.Trp108LeufsTer4
ENST00000380152.8:c.7855dup MANE Select	ENSP00000369497.3:p.Trp2619LeufsTer4
ENST00000544455.6:c.7855dup	ENSP00000439902.1:p.Trp2619LeufsTer4
ENST00000614259.2:c.7863dup	ENSP00000506251.1:p.Gly2622TrpfsTer?
ENST00000665585.1:c.420dup
ENST00000680887.1:c.7855dup	ENSP00000505508.1:p.Trp2619LeufsTer4
ENST00000380152.7:c.7855dup	ENSP00000369497.3:p.Trp2619LeufsTer4
ENST00000544455.5:c.7855dup	ENSP00000439902.1:p.Trp2619LeufsTer4
ENST00000614259.1:n.7863dup
NM_000059.3:c.7855dup , LRG_293t1:c.7855dup	NP_000050.2:p.Trp2619LeufsTer4
XM_011535203.1:c.7855dup	XP_011533505.1:p.Trp2619LeufsTer4
XM_011535204.1:c.7759dup	XP_011533506.1:p.Trp2587LeufsTer4
XM_011535205.1:c.7855dup	XP_011533507.1:p.Trp2619LeufsTer4
NM_000059.4:c.7855dup MANE Select	NP_000050.3:p.Trp2619LeufsTer4