Canonical Allele Identifier: CA2573149225

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1411416
• ClinVar RCV Id: RCV001920628
• dbSNP Id: rs2137619040

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379332dup , CM000675.2:g.32379332dup	GRCh38
NC_000013.10:g.32953469dup , CM000675.1:g.32953469dup	GRCh37
NC_000013.9:g.31851469dup	NCBI36
NG_012772.3:g.68853dup , LRG_293:g.68853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8770dup	ENSP00000434898.2:p.Glu2924GlyfsTer8
ENST00000528762.2:c.*137dup	ENSP00000433168.2:n.*137dup
ENST00000530893.7:c.8401dup	ENSP00000499438.2:p.Glu2801GlyfsTer8
ENST00000665585.2:c.*332dup	ENSP00000499570.2:n.*332dup
ENST00000666593.2:c.8770dup	ENSP00000499256.2:p.Glu2924GlyfsTer8
ENST00000700202.2:c.8770dup	ENSP00000514856.2:p.Glu2924GlyfsTer8
ENST00000700202.1:c.1237dup	ENSP00000514856.1:p.Glu413GlyfsTer8
ENST00000700203.1:n.897dup
ENST00000380152.8:c.8770dup MANE Select	ENSP00000369497.3:p.Glu2924GlyfsTer8
ENST00000544455.6:c.8770dup	ENSP00000439902.1:p.Glu2924GlyfsTer8
ENST00000614259.2:c.8778dup	ENSP00000506251.1:n.8778dup
ENST00000665585.1:c.1648dup
ENST00000680887.1:c.8770dup	ENSP00000505508.1:p.Glu2924GlyfsTer8
ENST00000380152.7:c.8770dup	ENSP00000369497.3:p.Glu2924GlyfsTer8
ENST00000528762.1:c.332dup	ENSP00000433168.1:n.332dup
ENST00000544455.5:c.8770dup	ENSP00000439902.1:p.Glu2924GlyfsTer8
NM_000059.3:c.8770dup , LRG_293t1:c.8770dup	NP_000050.2:p.Glu2924GlyfsTer8
XM_011535203.1:c.8770dup	XP_011533505.1:p.Glu2924GlyfsTer8
XM_011535204.1:c.8674dup	XP_011533506.1:p.Glu2892GlyfsTer8
XM_011535205.1:c.8755-418dup	XP_011533507.1:n.8755-418dup
NM_000059.4:c.8770dup MANE Select	NP_000050.3:p.Glu2924GlyfsTer8