Canonical Allele Identifier: CA658656359

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481192
• ClinVar RCV Id: RCV000569461
• dbSNP Id: rs1555289529
• MyVariant Identifiers: chr13:g.32968899dup (hg19) ; chr13:g.32394762dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394762dup , CM000675.2:g.32394762dup	GRCh38
NC_000013.10:g.32968899dup , CM000675.1:g.32968899dup	GRCh37
NC_000013.9:g.31866899dup	NCBI36
NG_012772.3:g.84283dup , LRG_293:g.84283dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9330dup	ENSP00000434898.2:p.Glu3111Ter
ENST00000528762.2:c.*697dup	ENSP00000433168.2:n.*697dup
ENST00000530893.7:c.8961dup	ENSP00000499438.2:p.Glu2988Ter
ENST00000665585.2:c.*892dup	ENSP00000499570.2:n.*892dup
ENST00000666593.2:c.*175dup	ENSP00000499256.2:n.*175dup
ENST00000700202.2:c.9279dup	ENSP00000514856.2:p.Glu3094Ter
ENST00000700202.1:c.1746dup	ENSP00000514856.1:p.Glu583Ter
ENST00000700203.1:n.1457dup
ENST00000380152.8:c.9330dup MANE Select	ENSP00000369497.3:p.Glu3111Ter
ENST00000544455.6:c.9330dup	ENSP00000439902.1:p.Glu3111Ter
ENST00000614259.2:c.9338dup	ENSP00000506251.1:n.9338dup
ENST00000665585.1:c.2208dup
ENST00000666593.1:c.352dup	ENSP00000499256.1:n.352dup
ENST00000680887.1:c.9330dup	ENSP00000505508.1:p.Glu3111Ter
ENST00000380152.7:c.9330dup	ENSP00000369497.3:p.Glu3111Ter
ENST00000470094.1:c.287dup
ENST00000544455.5:c.9330dup	ENSP00000439902.1:p.Glu3111Ter
NM_000059.3:c.9330dup , LRG_293t1:c.9330dup	NP_000050.2:p.Glu3111Ter
XM_011535203.1:c.9330dup	XP_011533505.1:p.Glu3111Ter
XM_011535204.1:c.9234dup	XP_011533506.1:p.Glu3079Ter
NM_000059.4:c.9330dup MANE Select	NP_000050.3:p.Glu3111Ter