Canonical Allele Identifier: CA019413

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51584
• ClinVar RCV Id: RCV000077318 ; RCV000478122 ; RCV000568203 ; RCV001090055 ; RCV001193778
• dbSNP Id: rs80359421
• ExAC: 13:32912528 ACT / A
• MyVariant Identifiers: chr13:g.32912529_32912530del (hg19) ; chr13:g.32338392_32338393del (hg38)
• PubMed: PMID:10644434 ; PMID:11920621 ; PMID:17591843 ; PMID:18627636 ; PMID:24578176

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338392_32338393del , CM000675.2:g.32338392_32338393del	GRCh38
NC_000013.10:g.32912529_32912530del , CM000675.1:g.32912529_32912530del	GRCh37
NC_000013.9:g.31810529_31810530del	NCBI36
NG_012772.3:g.27913_27914del , LRG_293:g.27913_27914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4037_4038del	ENSP00000434898.2:p.Thr1346SerfsTer5
ENST00000528762.2:c.4037_4038del	ENSP00000433168.2:p.Thr1346SerfsTer5
ENST00000530893.7:c.3668_3669del	ENSP00000499438.2:p.Thr1223SerfsTer5
ENST00000665585.2:c.4037_4038del	ENSP00000499570.2:p.Thr1346SerfsTer5
ENST00000666593.2:c.4037_4038del	ENSP00000499256.2:p.Thr1346SerfsTer5
ENST00000700202.2:c.4037_4038del	ENSP00000514856.2:p.Thr1346SerfsTer5
ENST00000380152.8:c.4037_4038del MANE Select	ENSP00000369497.3:p.Thr1346SerfsTer5
ENST00000544455.6:c.4037_4038del	ENSP00000439902.1:p.Thr1346SerfsTer5
ENST00000614259.2:c.4037_4038del	ENSP00000506251.1:p.Thr1346SerfsTer5
ENST00000680887.1:c.4037_4038del	ENSP00000505508.1:p.Thr1346SerfsTer5
ENST00000380152.7:c.4037_4038del	ENSP00000369497.3:p.Thr1346SerfsTer5
ENST00000544455.5:c.4037_4038del	ENSP00000439902.1:p.Thr1346SerfsTer5
ENST00000614259.1:n.4037_4038del
NM_000059.3:c.4037_4038del , LRG_293t1:c.4037_4038del	NP_000050.2:p.Thr1346SerfsTer5
XM_011535203.1:c.4037_4038del	XP_011533505.1:p.Thr1346SerfsTer5
XM_011535204.1:c.4037_4038del	XP_011533506.1:p.Thr1346SerfsTer5
XM_011535205.1:c.4037_4038del	XP_011533507.1:p.Thr1346SerfsTer5
NM_000059.4:c.4037_4038del MANE Select	NP_000050.3:p.Thr1346SerfsTer5