Canonical Allele Identifier: CA2573149288

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1325664
• ClinVar RCV Id: RCV002222240
• dbSNP Id: rs2137457893

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32329396_32329397delinsGT , CM000675.2:g.32329396_32329397delinsGT	GRCh38
NC_000013.10:g.32903533_32903534delinsGT , CM000675.1:g.32903533_32903534delinsGT	GRCh37
NC_000013.9:g.31801533_31801534delinsGT	NCBI36
NG_012772.3:g.18917_18918delinsGT , LRG_293:g.18917_18918delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.632-47_632-46delinsGT	ENSP00000434898.2:n.632-47_632-46delinsGT
ENST00000528762.2:c.632-47_632-46delinsGT	ENSP00000433168.2:n.632-47_632-46delinsGT
ENST00000530893.7:c.263-47_263-46delinsGT	ENSP00000499438.2:n.263-47_263-46delinsGT
ENST00000665585.2:c.632-47_632-46delinsGT	ENSP00000499570.2:n.632-47_632-46delinsGT
ENST00000666593.2:c.632-47_632-46delinsGT	ENSP00000499256.2:n.632-47_632-46delinsGT
ENST00000700202.2:c.632-47_632-46delinsGT	ENSP00000514856.2:n.632-47_632-46delinsGT
ENST00000700201.1:c.*411-47_*411-46delinsGT	ENSP00000514855.1:n.*411-47_*411-46delinsGT
ENST00000380152.8:c.632-47_632-46delinsGT MANE Select	ENSP00000369497.3:n.632-47_632-46delinsGT
ENST00000544455.6:c.632-47_632-46delinsGT	ENSP00000439902.1:n.632-47_632-46delinsGT
ENST00000614259.2:c.632-47_632-46delinsGT	ENSP00000506251.1:n.632-47_632-46delinsGT
ENST00000680887.1:c.632-47_632-46delinsGT	ENSP00000505508.1:n.632-47_632-46delinsGT
ENST00000380152.7:c.632-47_632-46delinsGT	ENSP00000369497.3:n.632-47_632-46delinsGT
ENST00000530893.6:n.830-47_830-46delinsGT
ENST00000544455.5:c.632-47_632-46delinsGT	ENSP00000439902.1:n.632-47_632-46delinsGT
ENST00000614259.1:n.632-47_632-46delinsGT
NM_000059.3:c.632-47_632-46delinsGT , LRG_293t1:c.632-47_632-46delinsGT	NP_000050.2:n.632-47_632-46delinsGT
XM_011535203.1:c.632-47_632-46delinsGT	XP_011533505.1:n.632-47_632-46delinsGT
XM_011535204.1:c.632-47_632-46delinsGT	XP_011533506.1:n.632-47_632-46delinsGT
XM_011535205.1:c.632-47_632-46delinsGT	XP_011533507.1:n.632-47_632-46delinsGT
NM_000059.4:c.632-47_632-46delinsGT MANE Select	NP_000050.3:n.632-47_632-46delinsGT