Canonical Allele Identifier: CA2573149338

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1451355
• ClinVar RCV Id: RCV001993225
• dbSNP Id: rs2137467912

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332607del , CM000675.2:g.32332607del	GRCh38
NC_000013.10:g.32906744del , CM000675.1:g.32906744del	GRCh37
NC_000013.9:g.31804744del	NCBI36
NG_012772.3:g.22128del , LRG_293:g.22128del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1129del	ENSP00000434898.2:p.Glu377ArgfsTer22
ENST00000528762.2:c.1129del	ENSP00000433168.2:p.Glu377ArgfsTer22
ENST00000530893.7:c.760del	ENSP00000499438.2:p.Glu254ArgfsTer22
ENST00000665585.2:c.1129del	ENSP00000499570.2:p.Glu377ArgfsTer22
ENST00000666593.2:c.1129del	ENSP00000499256.2:p.Glu377ArgfsTer22
ENST00000700202.2:c.1129del	ENSP00000514856.2:p.Glu377ArgfsTer22
ENST00000700201.1:c.*908del	ENSP00000514855.1:n.*908del
ENST00000380152.8:c.1129del MANE Select	ENSP00000369497.3:p.Glu377ArgfsTer22
ENST00000544455.6:c.1129del	ENSP00000439902.1:p.Glu377ArgfsTer22
ENST00000614259.2:c.1129del	ENSP00000506251.1:p.Glu377ArgfsTer22
ENST00000680887.1:c.1129del	ENSP00000505508.1:p.Glu377ArgfsTer22
ENST00000380152.7:c.1129del	ENSP00000369497.3:p.Glu377ArgfsTer22
ENST00000530893.6:n.1327del
ENST00000544455.5:c.1129del	ENSP00000439902.1:p.Glu377ArgfsTer22
ENST00000614259.1:n.1129del
NM_000059.3:c.1129del , LRG_293t1:c.1129del	NP_000050.2:p.Glu377ArgfsTer22
XM_011535203.1:c.1129del	XP_011533505.1:p.Glu377ArgfsTer22
XM_011535204.1:c.1129del	XP_011533506.1:p.Glu377ArgfsTer22
XM_011535205.1:c.1129del	XP_011533507.1:p.Glu377ArgfsTer22
NM_000059.4:c.1129del MANE Select	NP_000050.3:p.Glu377ArgfsTer22