Canonical Allele Identifier: CA026178

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394930dup , CM000675.2:g.32394930dup	GRCh38
NC_000013.10:g.32969067dup , CM000675.1:g.32969067dup	GRCh37
NC_000013.9:g.31867067dup	NCBI36
NG_012772.3:g.84451dup , LRG_293:g.84451dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9498dup MANE Select	NP_000050.3:p.Glu3167Ter
ENST00000380152.8:c.9498dup MANE Select	ENSP00000369497.3:p.Glu3167Ter
NM_000059.3:c.9498dup , LRG_293t1:c.9498dup	NP_000050.2:p.Glu3167Ter
ENST00000380152.7:c.9498dup	ENSP00000369497.3:p.Glu3167Ter
ENST00000470094.1:c.455dup
ENST00000470094.2:c.9498dup	ENSP00000434898.2:p.Glu3167Ter
ENST00000528762.2:c.*865dup	ENSP00000433168.2:n.*865dup
ENST00000530893.7:c.9129dup	ENSP00000499438.2:p.Glu3044Ter
ENST00000544455.5:c.9498dup	ENSP00000439902.1:p.Glu3167Ter
ENST00000544455.6:c.9498dup	ENSP00000439902.1:p.Glu3167Ter
ENST00000614259.2:c.9506dup	ENSP00000506251.1:n.9506dup
ENST00000665585.1:c.2376dup
ENST00000665585.2:c.*1060dup	ENSP00000499570.2:n.*1060dup
ENST00000666593.1:c.520dup	ENSP00000499256.1:n.520dup
ENST00000666593.2:c.*343dup	ENSP00000499256.2:n.*343dup
ENST00000680887.1:c.9498dup	ENSP00000505508.1:p.Glu3167Ter
ENST00000700202.1:c.1914dup	ENSP00000514856.1:p.Glu639Ter
ENST00000700202.2:c.9447dup	ENSP00000514856.2:p.Glu3150Ter
ENST00000700203.1:n.1625dup
XM_011535203.1:c.9498dup	XP_011533505.1:p.Glu3167Ter
XM_011535204.1:c.9402dup	XP_011533506.1:p.Glu3135Ter