Canonical Allele Identifier: CA2573149220

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1455542
• ClinVar RCV Id: RCV001946645 ; RCV002479581
• dbSNP Id: rs2137613060

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376743del , CM000675.2:g.32376743del	GRCh38
NC_000013.10:g.32950880del , CM000675.1:g.32950880del	GRCh37
NC_000013.9:g.31848880del	NCBI36
NG_012772.3:g.66264del , LRG_293:g.66264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8706del	ENSP00000434898.2:p.Glu2903SerfsTer6
ENST00000528762.2:c.*73del	ENSP00000433168.2:n.*73del
ENST00000530893.7:c.8337del	ENSP00000499438.2:p.Glu2780SerfsTer6
ENST00000665585.2:c.*268del	ENSP00000499570.2:n.*268del
ENST00000666593.2:c.8706del	ENSP00000499256.2:p.Glu2903SerfsTer6
ENST00000700202.2:c.8706del	ENSP00000514856.2:p.Glu2903SerfsTer6
ENST00000700202.1:c.1173del	ENSP00000514856.1:p.Glu392SerfsTer6
ENST00000700203.1:n.833del
ENST00000380152.8:c.8706del MANE Select	ENSP00000369497.3:p.Glu2903SerfsTer6
ENST00000544455.6:c.8706del	ENSP00000439902.1:p.Glu2903SerfsTer6
ENST00000614259.2:c.8714del	ENSP00000506251.1:n.8714del
ENST00000665585.1:c.1584del
ENST00000680887.1:c.8706del	ENSP00000505508.1:p.Glu2903SerfsTer6
ENST00000380152.7:c.8706del	ENSP00000369497.3:p.Glu2903SerfsTer6
ENST00000528762.1:c.268del	ENSP00000433168.1:n.268del
ENST00000544455.5:c.8706del	ENSP00000439902.1:p.Glu2903SerfsTer6
NM_000059.3:c.8706del , LRG_293t1:c.8706del	NP_000050.2:p.Glu2903SerfsTer6
XM_011535203.1:c.8706del	XP_011533505.1:p.Glu2903SerfsTer6
XM_011535204.1:c.8610del	XP_011533506.1:p.Glu2871SerfsTer6
XM_011535205.1:c.8706del	XP_011533507.1:p.Glu2903SerfsTer6
NM_000059.4:c.8706del MANE Select	NP_000050.3:p.Glu2903SerfsTer6