Canonical Allele Identifier: CA2573149219

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1325639
• ClinVar RCV Id: RCV002222217
• dbSNP Id: rs2137612852

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376723del , CM000675.2:g.32376723del	GRCh38
NC_000013.10:g.32950860del , CM000675.1:g.32950860del	GRCh37
NC_000013.9:g.31848860del	NCBI36
NG_012772.3:g.66244del , LRG_293:g.66244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8686del	ENSP00000434898.2:p.Arg2896ValfsTer13
ENST00000528762.2:c.*53del	ENSP00000433168.2:n.*53del
ENST00000530893.7:c.8317del	ENSP00000499438.2:p.Arg2773ValfsTer13
ENST00000665585.2:c.*248del	ENSP00000499570.2:n.*248del
ENST00000666593.2:c.8686del	ENSP00000499256.2:p.Arg2896ValfsTer13
ENST00000700202.2:c.8686del	ENSP00000514856.2:p.Arg2896ValfsTer13
ENST00000700202.1:c.1153del	ENSP00000514856.1:p.Arg385ValfsTer13
ENST00000700203.1:n.813del
ENST00000380152.8:c.8686del MANE Select	ENSP00000369497.3:p.Arg2896ValfsTer13
ENST00000544455.6:c.8686del	ENSP00000439902.1:p.Arg2896ValfsTer13
ENST00000614259.2:c.8694del	ENSP00000506251.1:n.8694del
ENST00000665585.1:c.1564del
ENST00000680887.1:c.8686del	ENSP00000505508.1:p.Arg2896ValfsTer13
ENST00000380152.7:c.8686del	ENSP00000369497.3:p.Arg2896ValfsTer13
ENST00000528762.1:c.248del	ENSP00000433168.1:n.248del
ENST00000544455.5:c.8686del	ENSP00000439902.1:p.Arg2896ValfsTer13
NM_000059.3:c.8686del , LRG_293t1:c.8686del	NP_000050.2:p.Arg2896ValfsTer13
XM_011535203.1:c.8686del	XP_011533505.1:p.Arg2896ValfsTer13
XM_011535204.1:c.8590del	XP_011533506.1:p.Arg2864ValfsTer13
XM_011535205.1:c.8686del	XP_011533507.1:p.Arg2896ValfsTer13
NM_000059.4:c.8686del MANE Select	NP_000050.3:p.Arg2896ValfsTer13