Canonical Allele Identifier: CA2499222379

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1073487
• ClinVar RCV Id: RCV001386514
• dbSNP Id: rs2137652728

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394763_32394767del , CM000675.2:g.32394763_32394767del	GRCh38
NC_000013.10:g.32968900_32968904del , CM000675.1:g.32968900_32968904del	GRCh37
NC_000013.9:g.31866900_31866904del	NCBI36
NG_012772.3:g.84284_84288del , LRG_293:g.84284_84288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9331_9335del	ENSP00000434898.2:p.Glu3111HisfsTer3
ENST00000528762.2:c.*698_*702del	ENSP00000433168.2:n.*698_*702del
ENST00000530893.7:c.8962_8966del	ENSP00000499438.2:p.Glu2988HisfsTer3
ENST00000665585.2:c.*893_*897del	ENSP00000499570.2:n.*893_*897del
ENST00000666593.2:c.*176_*180del	ENSP00000499256.2:n.*176_*180del
ENST00000700202.2:c.9280_9284del	ENSP00000514856.2:p.Glu3094HisfsTer3
ENST00000700202.1:c.1747_1751del	ENSP00000514856.1:p.Glu583HisfsTer3
ENST00000700203.1:n.1458_1462del
ENST00000380152.8:c.9331_9335del MANE Select	ENSP00000369497.3:p.Glu3111HisfsTer3
ENST00000544455.6:c.9331_9335del	ENSP00000439902.1:p.Glu3111HisfsTer3
ENST00000614259.2:c.9339_9343del	ENSP00000506251.1:n.9339_9343del
ENST00000665585.1:c.2209_2213del
ENST00000666593.1:c.353_357del	ENSP00000499256.1:n.353_357del
ENST00000680887.1:c.9331_9335del	ENSP00000505508.1:p.Glu3111HisfsTer3
ENST00000380152.7:c.9331_9335del	ENSP00000369497.3:p.Glu3111HisfsTer3
ENST00000470094.1:c.288_292del
ENST00000544455.5:c.9331_9335del	ENSP00000439902.1:p.Glu3111HisfsTer3
NM_000059.3:c.9331_9335del , LRG_293t1:c.9331_9335del	NP_000050.2:p.Glu3111HisfsTer3
XM_011535203.1:c.9331_9335del	XP_011533505.1:p.Glu3111HisfsTer3
XM_011535204.1:c.9235_9239del	XP_011533506.1:p.Glu3079HisfsTer3
NM_000059.4:c.9331_9335del MANE Select	NP_000050.3:p.Glu3111HisfsTer3