Canonical Allele Identifier: CA916080545

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 858189
• ClinVar RCV Id: RCV001064014
• dbSNP Id: rs2073053489

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398459_32398461del , CM000675.2:g.32398459_32398461del	GRCh38
NC_000013.10:g.32972596_32972598del , CM000675.1:g.32972596_32972598del	GRCh37
NC_000013.9:g.31870596_31870598del	NCBI36
NG_012772.3:g.87980_87982del , LRG_293:g.87980_87982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*469_*471del	ENSP00000434898.2:n.*469_*471del
ENST00000528762.2:c.*1313_*1315del	ENSP00000433168.2:n.*1313_*1315del
ENST00000530893.7:c.9577_9579del	ENSP00000499438.2:p.Glu3193del
ENST00000665585.2:c.*1508_*1510del	ENSP00000499570.2:n.*1508_*1510del
ENST00000700202.2:c.9895_9897del	ENSP00000514856.2:p.Glu3299del
ENST00000700202.1:c.2362_2364del	ENSP00000514856.1:p.Glu788del
ENST00000700203.1:n.2073_2075del
ENST00000380152.8:c.9946_9948del MANE Select	ENSP00000369497.3:p.Glu3316del
ENST00000544455.6:c.9946_9948del	ENSP00000439902.1:p.Glu3316del
ENST00000614259.2:c.9954_9956del	ENSP00000506251.1:n.9954_9956del
ENST00000680887.1:c.9946_9948del	ENSP00000505508.1:p.Glu3316del
ENST00000380152.7:c.9946_9948del	ENSP00000369497.3:p.Glu3316del
ENST00000544455.5:c.9946_9948del	ENSP00000439902.1:p.Glu3316del
NM_000059.3:c.9946_9948del , LRG_293t1:c.9946_9948del	NP_000050.2:p.Glu3316del
XM_011535203.1:c.9946_9948del	XP_011533505.1:p.Glu3316del
XM_011535204.1:c.9850_9852del	XP_011533506.1:p.Glu3284del
NM_000059.4:c.9946_9948del MANE Select	NP_000050.3:p.Glu3316del