Canonical Allele Identifier: CA2727928013

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137663593

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398275del , CM000675.2:g.32398275del	GRCh38
NC_000013.10:g.32972412del , CM000675.1:g.32972412del	GRCh37
NC_000013.9:g.31870412del	NCBI36
NG_012772.3:g.87796del , LRG_293:g.87796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*285del	ENSP00000434898.2:n.*285del
ENST00000528762.2:c.*1129del	ENSP00000433168.2:n.*1129del
ENST00000530893.7:c.9393del	ENSP00000499438.2:p.Glu3133ArgfsTer19
ENST00000665585.2:c.*1324del	ENSP00000499570.2:n.*1324del
ENST00000700202.2:c.9711del	ENSP00000514856.2:p.Glu3239ArgfsTer19
ENST00000700202.1:c.2178del	ENSP00000514856.1:p.Glu728ArgfsTer19
ENST00000700203.1:n.1889del
ENST00000380152.8:c.9762del MANE Select	ENSP00000369497.3:p.Glu3256ArgfsTer19
ENST00000544455.6:c.9762del	ENSP00000439902.1:p.Glu3256ArgfsTer19
ENST00000614259.2:c.9770del	ENSP00000506251.1:n.9770del
ENST00000680887.1:c.9762del	ENSP00000505508.1:p.Glu3256ArgfsTer19
ENST00000380152.7:c.9762del	ENSP00000369497.3:p.Glu3256ArgfsTer19
ENST00000533776.1:n.350del
ENST00000544455.5:c.9762del	ENSP00000439902.1:p.Glu3256ArgfsTer19
NM_000059.3:c.9762del , LRG_293t1:c.9762del	NP_000050.2:p.Glu3256ArgfsTer19
XM_011535203.1:c.9762del	XP_011533505.1:p.Glu3256ArgfsTer19
XM_011535204.1:c.9666del	XP_011533506.1:p.Glu3224ArgfsTer19
NM_000059.4:c.9762del MANE Select	NP_000050.3:p.Glu3256ArgfsTer19