Canonical Allele Identifier: CA658656401

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483038
• ClinVar RCV Id: RCV000574497 ; RCV001068420
• dbSNP Id: rs1555288379
• MyVariant Identifiers: chr13:g.32953517_32953523del (hg19) ; chr13:g.32379380_32379386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379380_32379386del , CM000675.2:g.32379380_32379386del	GRCh38
NC_000013.10:g.32953517_32953523del , CM000675.1:g.32953517_32953523del	GRCh37
NC_000013.9:g.31851517_31851523del	NCBI36
NG_012772.3:g.68901_68907del , LRG_293:g.68901_68907del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8818_8824del	ENSP00000434898.2:p.Lys2940LeufsTer?
ENST00000528762.2:c.*185_*191del	ENSP00000433168.2:n.*185_*191del
ENST00000530893.7:c.8449_8455del	ENSP00000499438.2:p.Lys2817LeufsTer?
ENST00000665585.2:c.*380_*386del	ENSP00000499570.2:n.*380_*386del
ENST00000666593.2:c.8818_8824del	ENSP00000499256.2:p.Lys2940LeufsTer?
ENST00000700202.2:c.8818_8824del	ENSP00000514856.2:p.Lys2940LeufsTer?
ENST00000700202.1:c.1285_1291del	ENSP00000514856.1:p.Lys429LeufsTer?
ENST00000700203.1:n.945_951del
ENST00000380152.8:c.8818_8824del MANE Select	ENSP00000369497.3:p.Lys2940LeufsTer?
ENST00000544455.6:c.8818_8824del	ENSP00000439902.1:p.Lys2940LeufsTer?
ENST00000614259.2:c.8826_8832del	ENSP00000506251.1:n.8826_8832del
ENST00000665585.1:c.1696_1702del
ENST00000680887.1:c.8818_8824del	ENSP00000505508.1:p.Lys2940LeufsTer?
ENST00000380152.7:c.8818_8824del	ENSP00000369497.3:p.Lys2940LeufsTer?
ENST00000528762.1:c.380_386del	ENSP00000433168.1:n.380_386del
ENST00000544455.5:c.8818_8824del	ENSP00000439902.1:p.Lys2940LeufsTer?
NM_000059.3:c.8818_8824del , LRG_293t1:c.8818_8824del	NP_000050.2:p.Lys2940LeufsTer?
XM_011535203.1:c.8818_8824del	XP_011533505.1:p.Lys2940LeufsTer?
XM_011535204.1:c.8722_8728del	XP_011533506.1:p.Lys2908LeufsTer?
XM_011535205.1:c.8755-370_8755-364del	XP_011533507.1:n.8755-370_8755-364del
NM_000059.4:c.8818_8824del MANE Select	NP_000050.3:p.Lys2940LeufsTer?