Canonical Allele Identifier: CA2573149359

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1453395
• ClinVar RCV Id: RCV002037901
• dbSNP Id: rs2137577202

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362612dup , CM000675.2:g.32362612dup	GRCh38
NC_000013.10:g.32936749dup , CM000675.1:g.32936749dup	GRCh37
NC_000013.9:g.31834749dup	NCBI36
NG_012772.3:g.52133dup , LRG_293:g.52133dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7895dup	ENSP00000434898.2:p.Ala2633SerfsTer8
ENST00000528762.2:c.7895dup	ENSP00000433168.2:p.Ala2633SerfsTer8
ENST00000530893.7:c.7526dup	ENSP00000499438.2:p.Ala2510SerfsTer8
ENST00000665585.2:c.7895dup	ENSP00000499570.2:p.Ala2633SerfsTer8
ENST00000666593.2:c.7895dup	ENSP00000499256.2:p.Ala2633SerfsTer8
ENST00000700202.2:c.7895dup	ENSP00000514856.2:p.Ala2633SerfsTer8
ENST00000700202.1:c.362dup	ENSP00000514856.1:p.Ala122SerfsTer8
ENST00000380152.8:c.7895dup MANE Select	ENSP00000369497.3:p.Ala2633SerfsTer8
ENST00000544455.6:c.7895dup	ENSP00000439902.1:p.Ala2633SerfsTer8
ENST00000614259.2:c.7903dup	ENSP00000506251.1:p.Gln2635ProfsTer?
ENST00000665585.1:c.460dup
ENST00000680887.1:c.7895dup	ENSP00000505508.1:p.Ala2633SerfsTer8
ENST00000380152.7:c.7895dup	ENSP00000369497.3:p.Ala2633SerfsTer8
ENST00000544455.5:c.7895dup	ENSP00000439902.1:p.Ala2633SerfsTer8
ENST00000614259.1:n.7903dup
NM_000059.3:c.7895dup , LRG_293t1:c.7895dup	NP_000050.2:p.Ala2633SerfsTer8
XM_011535203.1:c.7895dup	XP_011533505.1:p.Ala2633SerfsTer8
XM_011535204.1:c.7799dup	XP_011533506.1:p.Ala2601SerfsTer8
XM_011535205.1:c.7895dup	XP_011533507.1:p.Ala2633SerfsTer8
NM_000059.4:c.7895dup MANE Select	NP_000050.3:p.Ala2633SerfsTer8