Canonical Allele Identifier: CA10589557

Gene: BRCA2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394743dup , CM000675.2:g.32394743dup	GRCh38
NC_000013.10:g.32968880dup , CM000675.1:g.32968880dup	GRCh37
NC_000013.9:g.31866880dup	NCBI36
NG_012772.3:g.84264dup , LRG_293:g.84264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9311dup	ENSP00000434898.2:p.Phe3105ValfsTer6
ENST00000528762.2:c.*678dup	ENSP00000433168.2:n.*678dup
ENST00000530893.7:c.8942dup	ENSP00000499438.2:p.Phe2982ValfsTer6
ENST00000665585.2:c.*873dup	ENSP00000499570.2:n.*873dup
ENST00000666593.2:c.*156dup	ENSP00000499256.2:n.*156dup
ENST00000700202.2:c.9260dup	ENSP00000514856.2:p.Phe3088ValfsTer6
ENST00000700202.1:c.1727dup	ENSP00000514856.1:p.Phe577ValfsTer6
ENST00000700203.1:n.1438dup
ENST00000380152.8:c.9311dup MANE Select	ENSP00000369497.3:p.Phe3105ValfsTer6
ENST00000544455.6:c.9311dup	ENSP00000439902.1:p.Phe3105ValfsTer6
ENST00000614259.2:c.9319dup	ENSP00000506251.1:n.9319dup
ENST00000665585.1:c.2189dup
ENST00000666593.1:c.333dup	ENSP00000499256.1:n.333dup
ENST00000680887.1:c.9311dup	ENSP00000505508.1:p.Phe3105ValfsTer6
ENST00000380152.7:c.9311dup	ENSP00000369497.3:p.Phe3105ValfsTer6
ENST00000470094.1:c.268dup
ENST00000544455.5:c.9311dup	ENSP00000439902.1:p.Phe3105ValfsTer6
NM_000059.3:c.9311dup , LRG_293t1:c.9311dup	NP_000050.2:p.Phe3105ValfsTer6
XM_011535203.1:c.9311dup	XP_011533505.1:p.Phe3105ValfsTer6
XM_011535204.1:c.9215dup	XP_011533506.1:p.Phe3073ValfsTer6
NM_000059.4:c.9311dup MANE Select	NP_000050.3:p.Phe3105ValfsTer6