Canonical Allele Identifier: CA026301

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91534
• ClinVar RCV Id: RCV000077051 ; RCV000197732 ; RCV000217558 ; RCV001547038
• dbSNP Id: rs398122622
• gnomAD v2: 13-32972457-AG-A
• gnomAD v4: 13-32398320-AG-A
• MyVariant Identifiers: chr13:g.32972458del (hg19) ; chr13:g.32398321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398321del , CM000675.2:g.32398321del	GRCh38
NC_000013.10:g.32972458del , CM000675.1:g.32972458del	GRCh37
NC_000013.9:g.31870458del	NCBI36
NG_012772.3:g.87842del , LRG_293:g.87842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*331del	ENSP00000434898.2:n.*331del
ENST00000528762.2:c.*1175del	ENSP00000433168.2:n.*1175del
ENST00000530893.7:c.9439del	ENSP00000499438.2:p.Ala3147ProfsTer5
ENST00000665585.2:c.*1370del	ENSP00000499570.2:n.*1370del
ENST00000700202.2:c.9757del	ENSP00000514856.2:p.Ala3253ProfsTer5
ENST00000700202.1:c.2224del	ENSP00000514856.1:p.Ala742ProfsTer5
ENST00000700203.1:n.1935del
ENST00000380152.8:c.9808del MANE Select	ENSP00000369497.3:p.Ala3270ProfsTer5
ENST00000544455.6:c.9808del	ENSP00000439902.1:p.Ala3270ProfsTer5
ENST00000614259.2:c.9816del	ENSP00000506251.1:n.9816del
ENST00000680887.1:c.9808del	ENSP00000505508.1:p.Ala3270ProfsTer5
ENST00000380152.7:c.9808del	ENSP00000369497.3:p.Ala3270ProfsTer5
ENST00000533776.1:n.396del
ENST00000544455.5:c.9808del	ENSP00000439902.1:p.Ala3270ProfsTer5
NM_000059.3:c.9808del , LRG_293t1:c.9808del	NP_000050.2:p.Ala3270ProfsTer5
XM_011535203.1:c.9808del	XP_011533505.1:p.Ala3270ProfsTer5
XM_011535204.1:c.9712del	XP_011533506.1:p.Ala3238ProfsTer5
NM_000059.4:c.9808del MANE Select	NP_000050.3:p.Ala3270ProfsTer5