Canonical Allele Identifier: CA2573149228

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1364298
• ClinVar RCV Id: RCV001937422
• dbSNP Id: rs2137620036

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379437dup , CM000675.2:g.32379437dup	GRCh38
NC_000013.10:g.32953574dup , CM000675.1:g.32953574dup	GRCh37
NC_000013.9:g.31851574dup	NCBI36
NG_012772.3:g.68958dup , LRG_293:g.68958dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8875dup	ENSP00000434898.2:p.Glu2959GlyfsTer?
ENST00000528762.2:c.*242dup	ENSP00000433168.2:n.*242dup
ENST00000530893.7:c.8506dup	ENSP00000499438.2:p.Glu2836GlyfsTer?
ENST00000665585.2:c.*437dup	ENSP00000499570.2:n.*437dup
ENST00000666593.2:c.8875dup	ENSP00000499256.2:p.Glu2959GlyfsTer?
ENST00000700202.2:c.8875dup	ENSP00000514856.2:p.Glu2959GlyfsTer?
ENST00000700202.1:c.1342dup	ENSP00000514856.1:p.Glu448GlyfsTer?
ENST00000700203.1:n.1002dup
ENST00000380152.8:c.8875dup MANE Select	ENSP00000369497.3:p.Glu2959GlyfsTer?
ENST00000544455.6:c.8875dup	ENSP00000439902.1:p.Glu2959GlyfsTer?
ENST00000614259.2:c.8883dup	ENSP00000506251.1:n.8883dup
ENST00000665585.1:c.1753dup
ENST00000680887.1:c.8875dup	ENSP00000505508.1:p.Glu2959GlyfsTer?
ENST00000380152.7:c.8875dup	ENSP00000369497.3:p.Glu2959GlyfsTer?
ENST00000528762.1:c.437dup	ENSP00000433168.1:n.437dup
ENST00000544455.5:c.8875dup	ENSP00000439902.1:p.Glu2959GlyfsTer?
NM_000059.3:c.8875dup , LRG_293t1:c.8875dup	NP_000050.2:p.Glu2959GlyfsTer?
XM_011535203.1:c.8875dup	XP_011533505.1:p.Glu2959GlyfsTer?
XM_011535204.1:c.8779dup	XP_011533506.1:p.Glu2927GlyfsTer?
XM_011535205.1:c.8755-313dup	XP_011533507.1:n.8755-313dup
NM_000059.4:c.8875dup MANE Select	NP_000050.3:p.Glu2959GlyfsTer?