Canonical Allele Identifier: CA915946883

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 827362
• ClinVar RCV Id: RCV001027005 ; RCV001350305
• dbSNP Id: rs1593924305

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362678_32362680del , CM000675.2:g.32362678_32362680del	GRCh38
NC_000013.10:g.32936815_32936817del , CM000675.1:g.32936815_32936817del	GRCh37
NC_000013.9:g.31834815_31834817del	NCBI36
NG_012772.3:g.52199_52201del , LRG_293:g.52199_52201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7961_7963del	ENSP00000434898.2:p.Leu2654del
ENST00000528762.2:c.7961_7963del	ENSP00000433168.2:p.Leu2654del
ENST00000530893.7:c.7592_7594del	ENSP00000499438.2:p.Leu2531del
ENST00000665585.2:c.7961_7963del	ENSP00000499570.2:p.Leu2654del
ENST00000666593.2:c.7961_7963del	ENSP00000499256.2:p.Leu2654del
ENST00000700202.2:c.7961_7963del	ENSP00000514856.2:p.Leu2654del
ENST00000700202.1:c.428_430del	ENSP00000514856.1:p.Leu143del
ENST00000380152.8:c.7961_7963del MANE Select	ENSP00000369497.3:p.Leu2654del
ENST00000544455.6:c.7961_7963del	ENSP00000439902.1:p.Leu2654del
ENST00000614259.2:c.7969_7971del	ENSP00000506251.1:n.7969_7971del
ENST00000665585.1:c.526_528del
ENST00000680887.1:c.7961_7963del	ENSP00000505508.1:p.Leu2654del
ENST00000380152.7:c.7961_7963del	ENSP00000369497.3:p.Leu2654del
ENST00000544455.5:c.7961_7963del	ENSP00000439902.1:p.Leu2654del
NM_000059.3:c.7961_7963del , LRG_293t1:c.7961_7963del	NP_000050.2:p.Leu2654del
XM_011535203.1:c.7961_7963del	XP_011533505.1:p.Leu2654del
XM_011535204.1:c.7865_7867del	XP_011533506.1:p.Leu2622del
XM_011535205.1:c.7961_7963del	XP_011533507.1:p.Leu2654del
NM_000059.4:c.7961_7963del MANE Select	NP_000050.3:p.Leu2654del