Canonical Allele Identifier: CA915948611

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 657461
• ClinVar RCV Id: RCV000814065 ; RCV001018370
• dbSNP Id: rs1593936593

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379367_32379368dup , CM000675.2:g.32379367_32379368dup	GRCh38
NC_000013.10:g.32953504_32953505dup , CM000675.1:g.32953504_32953505dup	GRCh37
NC_000013.9:g.31851504_31851505dup	NCBI36
NG_012772.3:g.68888_68889dup , LRG_293:g.68888_68889dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8805_8806dup	ENSP00000434898.2:p.Leu2936CysfsTer2
ENST00000528762.2:c.*172_*173dup	ENSP00000433168.2:n.*172_*173dup
ENST00000530893.7:c.8436_8437dup	ENSP00000499438.2:p.Leu2813CysfsTer2
ENST00000665585.2:c.*367_*368dup	ENSP00000499570.2:n.*367_*368dup
ENST00000666593.2:c.8805_8806dup	ENSP00000499256.2:p.Leu2936CysfsTer2
ENST00000700202.2:c.8805_8806dup	ENSP00000514856.2:p.Leu2936CysfsTer2
ENST00000700202.1:c.1272_1273dup	ENSP00000514856.1:p.Leu425CysfsTer2
ENST00000700203.1:n.932_933dup
ENST00000380152.8:c.8805_8806dup MANE Select	ENSP00000369497.3:p.Leu2936CysfsTer2
ENST00000544455.6:c.8805_8806dup	ENSP00000439902.1:p.Leu2936CysfsTer2
ENST00000614259.2:c.8813_8814dup	ENSP00000506251.1:n.8813_8814dup
ENST00000665585.1:c.1683_1684dup
ENST00000680887.1:c.8805_8806dup	ENSP00000505508.1:p.Leu2936CysfsTer2
ENST00000380152.7:c.8805_8806dup	ENSP00000369497.3:p.Leu2936CysfsTer2
ENST00000528762.1:c.367_368dup	ENSP00000433168.1:n.367_368dup
ENST00000544455.5:c.8805_8806dup	ENSP00000439902.1:p.Leu2936CysfsTer2
NM_000059.3:c.8805_8806dup , LRG_293t1:c.8805_8806dup	NP_000050.2:p.Leu2936CysfsTer2
XM_011535203.1:c.8805_8806dup	XP_011533505.1:p.Leu2936CysfsTer2
XM_011535204.1:c.8709_8710dup	XP_011533506.1:p.Leu2904CysfsTer2
XM_011535205.1:c.8755-383_8755-382dup	XP_011533507.1:n.8755-383_8755-382dup
NM_000059.4:c.8805_8806dup MANE Select	NP_000050.3:p.Leu2936CysfsTer2