Canonical Allele Identifier: CA915946870

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 827108
• ClinVar RCV Id: RCV001026542 ; RCV003478659
• dbSNP Id: rs1593919707

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356532_32356541del , CM000675.2:g.32356532_32356541del	GRCh38
NC_000013.10:g.32930669_32930678del , CM000675.1:g.32930669_32930678del	GRCh37
NC_000013.9:g.31828669_31828678del	NCBI36
NG_012772.3:g.46053_46062del , LRG_293:g.46053_46062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7540_7549del	ENSP00000434898.2:p.Lys2514LeufsTer7
ENST00000528762.2:c.7540_7549del	ENSP00000433168.2:p.Lys2514LeufsTer7
ENST00000530893.7:c.7171_7180del	ENSP00000499438.2:p.Lys2391LeufsTer7
ENST00000665585.2:c.7540_7549del	ENSP00000499570.2:p.Lys2514LeufsTer7
ENST00000666593.2:c.7540_7549del	ENSP00000499256.2:p.Lys2514LeufsTer7
ENST00000700202.2:c.7540_7549del	ENSP00000514856.2:p.Lys2514LeufsTer7
ENST00000700202.1:c.7_16del	ENSP00000514856.1:p.Lys3LeufsTer7
ENST00000380152.8:c.7540_7549del MANE Select	ENSP00000369497.3:p.Lys2514LeufsTer7
ENST00000544455.6:c.7540_7549del	ENSP00000439902.1:p.Lys2514LeufsTer7
ENST00000614259.2:c.7540_7549del	ENSP00000506251.1:p.Lys2514LeufsTer7
ENST00000665585.1:c.105_114del
ENST00000680887.1:c.7540_7549del	ENSP00000505508.1:p.Lys2514LeufsTer7
ENST00000380152.7:c.7540_7549del	ENSP00000369497.3:p.Lys2514LeufsTer7
ENST00000544455.5:c.7540_7549del	ENSP00000439902.1:p.Lys2514LeufsTer7
ENST00000614259.1:n.7540_7549del
NM_000059.3:c.7540_7549del , LRG_293t1:c.7540_7549del	NP_000050.2:p.Lys2514LeufsTer7
XM_011535203.1:c.7540_7549del	XP_011533505.1:p.Lys2514LeufsTer7
XM_011535204.1:c.7444_7453del	XP_011533506.1:p.Lys2482LeufsTer7
XM_011535205.1:c.7540_7549del	XP_011533507.1:p.Lys2514LeufsTer7
NM_000059.4:c.7540_7549del MANE Select	NP_000050.3:p.Lys2514LeufsTer7