Canonical Allele Identifier: CA919242913

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566258928

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394763_32394764insT , CM000675.2:g.32394763_32394764insT	GRCh38
NC_000013.10:g.32968900_32968901insT , CM000675.1:g.32968900_32968901insT	GRCh37
NC_000013.9:g.31866900_31866901insT	NCBI36
NG_012772.3:g.84284_84285insT , LRG_293:g.84284_84285insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9331_9332insT	ENSP00000434898.2:p.Glu3111ValfsTer5
ENST00000528762.2:c.*698_*699insT	ENSP00000433168.2:n.*698_*699insT
ENST00000530893.7:c.8962_8963insT	ENSP00000499438.2:p.Glu2988ValfsTer5
ENST00000665585.2:c.*893_*894insT	ENSP00000499570.2:n.*893_*894insT
ENST00000666593.2:c.*176_*177insT	ENSP00000499256.2:n.*176_*177insT
ENST00000700202.2:c.9280_9281insT	ENSP00000514856.2:p.Glu3094ValfsTer5
ENST00000700202.1:c.1747_1748insT	ENSP00000514856.1:p.Glu583ValfsTer5
ENST00000700203.1:n.1458_1459insT
ENST00000380152.8:c.9331_9332insT MANE Select	ENSP00000369497.3:p.Glu3111ValfsTer5
ENST00000544455.6:c.9331_9332insT	ENSP00000439902.1:p.Glu3111ValfsTer5
ENST00000614259.2:c.9339_9340insT	ENSP00000506251.1:n.9339_9340insT
ENST00000665585.1:c.2209_2210insT
ENST00000666593.1:c.353_354insT	ENSP00000499256.1:n.353_354insT
ENST00000680887.1:c.9331_9332insT	ENSP00000505508.1:p.Glu3111ValfsTer5
ENST00000380152.7:c.9331_9332insT	ENSP00000369497.3:p.Glu3111ValfsTer5
ENST00000470094.1:c.288_289insT
ENST00000544455.5:c.9331_9332insT	ENSP00000439902.1:p.Glu3111ValfsTer5
NM_000059.3:c.9331_9332insT , LRG_293t1:c.9331_9332insT	NP_000050.2:p.Glu3111ValfsTer5
XM_011535203.1:c.9331_9332insT	XP_011533505.1:p.Glu3111ValfsTer5
XM_011535204.1:c.9235_9236insT	XP_011533506.1:p.Glu3079ValfsTer5
NM_000059.4:c.9331_9332insT MANE Select	NP_000050.3:p.Glu3111ValfsTer5