Canonical Allele Identifier: CA2695199711

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2680288
• ClinVar RCV Id: RCV003474426

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379479del , CM000675.2:g.32379479del	GRCh38
NC_000013.10:g.32953616del , CM000675.1:g.32953616del	GRCh37
NC_000013.9:g.31851616del	NCBI36
NG_012772.3:g.69000del , LRG_293:g.69000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8917del	ENSP00000434898.2:p.Arg2973ValfsTer3
ENST00000528762.2:c.*284del	ENSP00000433168.2:n.*284del
ENST00000530893.7:c.8548del	ENSP00000499438.2:p.Arg2850ValfsTer3
ENST00000665585.2:c.*479del	ENSP00000499570.2:n.*479del
ENST00000666593.2:c.8917del	ENSP00000499256.2:p.Arg2973ValfsTer3
ENST00000700202.2:c.8917del	ENSP00000514856.2:p.Arg2973ValfsTer3
ENST00000700202.1:c.1384del	ENSP00000514856.1:p.Arg462ValfsTer3
ENST00000700203.1:n.1044del
ENST00000380152.8:c.8917del MANE Select	ENSP00000369497.3:p.Arg2973ValfsTer3
ENST00000544455.6:c.8917del	ENSP00000439902.1:p.Arg2973ValfsTer3
ENST00000614259.2:c.8925del	ENSP00000506251.1:n.8925del
ENST00000665585.1:c.1795del
ENST00000680887.1:c.8917del	ENSP00000505508.1:p.Arg2973ValfsTer3
ENST00000380152.7:c.8917del	ENSP00000369497.3:p.Arg2973ValfsTer3
ENST00000528762.1:c.479del	ENSP00000433168.1:n.479del
ENST00000544455.5:c.8917del	ENSP00000439902.1:p.Arg2973ValfsTer3
NM_000059.3:c.8917del , LRG_293t1:c.8917del	NP_000050.2:p.Arg2973ValfsTer3
XM_011535203.1:c.8917del	XP_011533505.1:p.Arg2973ValfsTer3
XM_011535204.1:c.8821del	XP_011533506.1:p.Arg2941ValfsTer3
XM_011535205.1:c.8755-271del	XP_011533507.1:n.8755-271del
NM_000059.4:c.8917del MANE Select	NP_000050.3:p.Arg2973ValfsTer3