Canonical Allele Identifier: CA2580087465

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768430
• ClinVar RCV Id: RCV002387338

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398375dup , CM000675.2:g.32398375dup	GRCh38
NC_000013.10:g.32972512dup , CM000675.1:g.32972512dup	GRCh37
NC_000013.9:g.31870512dup	NCBI36
NG_012772.3:g.87896dup , LRG_293:g.87896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*385dup	ENSP00000434898.2:n.*385dup
ENST00000528762.2:c.*1229dup	ENSP00000433168.2:n.*1229dup
ENST00000530893.7:c.9493dup	ENSP00000499438.2:p.Thr3165AsnfsTer?
ENST00000665585.2:c.*1424dup	ENSP00000499570.2:n.*1424dup
ENST00000700202.2:c.9811dup	ENSP00000514856.2:p.Thr3271AsnfsTer?
ENST00000700202.1:c.2278dup	ENSP00000514856.1:p.Thr760AsnfsTer?
ENST00000700203.1:n.1989dup
ENST00000380152.8:c.9862dup MANE Select	ENSP00000369497.3:p.Thr3288AsnfsTer?
ENST00000544455.6:c.9862dup	ENSP00000439902.1:p.Thr3288AsnfsTer?
ENST00000614259.2:c.9870dup	ENSP00000506251.1:n.9870dup
ENST00000680887.1:c.9862dup	ENSP00000505508.1:p.Thr3288AsnfsTer?
ENST00000380152.7:c.9862dup	ENSP00000369497.3:p.Thr3288AsnfsTer?
ENST00000533776.1:n.450dup
ENST00000544455.5:c.9862dup	ENSP00000439902.1:p.Thr3288AsnfsTer?
NM_000059.3:c.9862dup , LRG_293t1:c.9862dup	NP_000050.2:p.Thr3288AsnfsTer?
XM_011535203.1:c.9862dup	XP_011533505.1:p.Thr3288AsnfsTer?
XM_011535204.1:c.9766dup	XP_011533506.1:p.Thr3256AsnfsTer?
NM_000059.4:c.9862dup MANE Select	NP_000050.3:p.Thr3288AsnfsTer?