Canonical Allele Identifier: CA915948612

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 822789
• ClinVar RCV Id: RCV001018432
• dbSNP Id: rs1593936782

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379435del , CM000675.2:g.32379435del	GRCh38
NC_000013.10:g.32953572del , CM000675.1:g.32953572del	GRCh37
NC_000013.9:g.31851572del	NCBI36
NG_012772.3:g.68956del , LRG_293:g.68956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8873del	ENSP00000434898.2:p.Lys2958ArgfsTer18
ENST00000528762.2:c.*240del	ENSP00000433168.2:n.*240del
ENST00000530893.7:c.8504del	ENSP00000499438.2:p.Lys2835ArgfsTer18
ENST00000665585.2:c.*435del	ENSP00000499570.2:n.*435del
ENST00000666593.2:c.8873del	ENSP00000499256.2:p.Lys2958ArgfsTer18
ENST00000700202.2:c.8873del	ENSP00000514856.2:p.Lys2958ArgfsTer18
ENST00000700202.1:c.1340del	ENSP00000514856.1:p.Lys447ArgfsTer18
ENST00000700203.1:n.1000del
ENST00000380152.8:c.8873del MANE Select	ENSP00000369497.3:p.Lys2958ArgfsTer18
ENST00000544455.6:c.8873del	ENSP00000439902.1:p.Lys2958ArgfsTer18
ENST00000614259.2:c.8881del	ENSP00000506251.1:n.8881del
ENST00000665585.1:c.1751del
ENST00000680887.1:c.8873del	ENSP00000505508.1:p.Lys2958ArgfsTer18
ENST00000380152.7:c.8873del	ENSP00000369497.3:p.Lys2958ArgfsTer18
ENST00000528762.1:c.435del	ENSP00000433168.1:n.435del
ENST00000544455.5:c.8873del	ENSP00000439902.1:p.Lys2958ArgfsTer18
NM_000059.3:c.8873del , LRG_293t1:c.8873del	NP_000050.2:p.Lys2958ArgfsTer18
XM_011535203.1:c.8873del	XP_011533505.1:p.Lys2958ArgfsTer18
XM_011535204.1:c.8777del	XP_011533506.1:p.Lys2926ArgfsTer18
XM_011535205.1:c.8755-315del	XP_011533507.1:n.8755-315del
NM_000059.4:c.8873del MANE Select	NP_000050.3:p.Lys2958ArgfsTer18