Canonical Allele Identifier: CA915948635

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 753281
• ClinVar RCV Id: RCV001450726 ; RCV002445053
• dbSNP Id: rs1593202263

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398593_32398596del , CM000675.2:g.32398593_32398596del	GRCh38
NC_000013.10:g.32972730_32972733del , CM000675.1:g.32972730_32972733del	GRCh37
NC_000013.9:g.31870730_31870733del	NCBI36
NG_012772.3:g.88114_88117del , LRG_293:g.88114_88117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*603_*606del	ENSP00000434898.2:n.*603_*606del
ENST00000528762.2:c.*1447_*1450del	ENSP00000433168.2:n.*1447_*1450del
ENST00000530893.7:c.9711_9714del	ENSP00000499438.2:p.Lys3237AsnfsTer22
ENST00000665585.2:c.*1642_*1645del	ENSP00000499570.2:n.*1642_*1645del
ENST00000700202.2:c.10029_10032del	ENSP00000514856.2:p.Lys3343AsnfsTer22
ENST00000700202.1:c.2496_2499del	ENSP00000514856.1:p.Lys832AsnfsTer22
ENST00000700203.1:n.2207_2210del
ENST00000380152.8:c.10080_10083del MANE Select	ENSP00000369497.3:p.Lys3360AsnfsTer22
ENST00000544455.6:c.10080_10083del	ENSP00000439902.1:p.Lys3360AsnfsTer22
ENST00000614259.2:c.10088_10091del	ENSP00000506251.1:n.10088_10091del
ENST00000680887.1:c.10080_10083del	ENSP00000505508.1:p.Lys3360AsnfsTer22
ENST00000380152.7:c.10080_10083del	ENSP00000369497.3:p.Lys3360AsnfsTer22
ENST00000544455.5:c.10080_10083del	ENSP00000439902.1:p.Lys3360AsnfsTer22
NM_000059.3:c.10080_10083del , LRG_293t1:c.10080_10083del	NP_000050.2:p.Lys3360AsnfsTer22
XM_011535203.1:c.10080_10083del	XP_011533505.1:p.Lys3360AsnfsTer22
XM_011535204.1:c.9984_9987del	XP_011533506.1:p.Lys3328AsnfsTer22
NM_000059.4:c.10080_10083del MANE Select	NP_000050.3:p.Lys3360AsnfsTer22