Canonical Allele Identifier: CA2697551703

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2681848
• ClinVar RCV Id: RCV003477140

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398332_32398334del , CM000675.2:g.32398332_32398334del	GRCh38
NC_000013.10:g.32972469_32972471del , CM000675.1:g.32972469_32972471del	GRCh37
NC_000013.9:g.31870469_31870471del	NCBI36
NG_012772.3:g.87853_87855del , LRG_293:g.87853_87855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*342_*344del	ENSP00000434898.2:n.*342_*344del
ENST00000528762.2:c.*1186_*1188del	ENSP00000433168.2:n.*1186_*1188del
ENST00000530893.7:c.9450_9452del	ENSP00000499438.2:p.Phe3150del
ENST00000665585.2:c.*1381_*1383del	ENSP00000499570.2:n.*1381_*1383del
ENST00000700202.2:c.9768_9770del	ENSP00000514856.2:p.Phe3256del
ENST00000700202.1:c.2235_2237del	ENSP00000514856.1:p.Phe745del
ENST00000700203.1:n.1946_1948del
ENST00000380152.8:c.9819_9821del MANE Select	ENSP00000369497.3:p.Phe3273del
ENST00000544455.6:c.9819_9821del	ENSP00000439902.1:p.Phe3273del
ENST00000614259.2:c.9827_9829del	ENSP00000506251.1:n.9827_9829del
ENST00000680887.1:c.9819_9821del	ENSP00000505508.1:p.Phe3273del
ENST00000380152.7:c.9819_9821del	ENSP00000369497.3:p.Phe3273del
ENST00000533776.1:n.407_409del
ENST00000544455.5:c.9819_9821del	ENSP00000439902.1:p.Phe3273del
NM_000059.3:c.9819_9821del , LRG_293t1:c.9819_9821del	NP_000050.2:p.Phe3273del
XM_011535203.1:c.9819_9821del	XP_011533505.1:p.Phe3273del
XM_011535204.1:c.9723_9725del	XP_011533506.1:p.Phe3241del
NM_000059.4:c.9819_9821del MANE Select	NP_000050.3:p.Phe3273del