Canonical Allele Identifier: CA1139663166

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 959091
• ClinVar RCV Id: RCV001232378
• dbSNP Id: rs80359751

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380066dup , CM000675.2:g.32380066dup	GRCh38
NC_000013.10:g.32954203dup , CM000675.1:g.32954203dup	GRCh37
NC_000013.9:g.31852203dup	NCBI36
NG_012772.3:g.69587dup , LRG_293:g.69587dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9177dup	ENSP00000434898.2:p.Phe3060IlefsTer12
ENST00000528762.2:c.*544dup	ENSP00000433168.2:n.*544dup
ENST00000530893.7:c.8808dup	ENSP00000499438.2:p.Phe2937IlefsTer12
ENST00000665585.2:c.*739dup	ENSP00000499570.2:n.*739dup
ENST00000666593.2:c.9177dup	ENSP00000499256.2:p.Phe3060IlefsTer12
ENST00000700202.2:c.9126dup	ENSP00000514856.2:p.Phe3043IlefsTer12
ENST00000700202.1:c.1593dup	ENSP00000514856.1:p.Phe532IlefsTer12
ENST00000700203.1:n.1304dup
ENST00000380152.8:c.9177dup MANE Select	ENSP00000369497.3:p.Phe3060IlefsTer12
ENST00000544455.6:c.9177dup	ENSP00000439902.1:p.Phe3060IlefsTer12
ENST00000614259.2:c.9185dup	ENSP00000506251.1:n.9185dup
ENST00000665585.1:c.2055dup
ENST00000666593.1:c.60dup	ENSP00000499256.1:p.Phe21IlefsTer12
ENST00000680887.1:c.9177dup	ENSP00000505508.1:p.Phe3060IlefsTer12
ENST00000380152.7:c.9177dup	ENSP00000369497.3:p.Phe3060IlefsTer12
ENST00000470094.1:c.134dup
ENST00000544455.5:c.9177dup	ENSP00000439902.1:p.Phe3060IlefsTer12
NM_000059.3:c.9177dup , LRG_293t1:c.9177dup	NP_000050.2:p.Phe3060IlefsTer12
XM_011535203.1:c.9177dup	XP_011533505.1:p.Phe3060IlefsTer12
XM_011535204.1:c.9081dup	XP_011533506.1:p.Phe3028IlefsTer12
NM_000059.4:c.9177dup MANE Select	NP_000050.3:p.Phe3060IlefsTer12