Canonical Allele Identifier: CA915946901

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 663244
• ClinVar RCV Id: RCV000821087
• dbSNP Id: rs1593934969

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376766_32376775del , CM000675.2:g.32376766_32376775del	GRCh38
NC_000013.10:g.32950903_32950912del , CM000675.1:g.32950903_32950912del	GRCh37
NC_000013.9:g.31848903_31848912del	NCBI36
NG_012772.3:g.66287_66296del , LRG_293:g.66287_66296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8729_8738del	ENSP00000434898.2:p.Asn2910ThrfsTer14
ENST00000528762.2:c.*96_*105del	ENSP00000433168.2:n.*96_*105del
ENST00000530893.7:c.8360_8369del	ENSP00000499438.2:p.Asn2787ThrfsTer14
ENST00000665585.2:c.*291_*300del	ENSP00000499570.2:n.*291_*300del
ENST00000666593.2:c.8729_8738del	ENSP00000499256.2:p.Asn2910ThrfsTer14
ENST00000700202.2:c.8729_8738del	ENSP00000514856.2:p.Asn2910ThrfsTer14
ENST00000700202.1:c.1196_1205del	ENSP00000514856.1:p.Asn399ThrfsTer14
ENST00000700203.1:n.856_865del
ENST00000380152.8:c.8729_8738del MANE Select	ENSP00000369497.3:p.Asn2910ThrfsTer14
ENST00000544455.6:c.8729_8738del	ENSP00000439902.1:p.Asn2910ThrfsTer14
ENST00000614259.2:c.8737_8746del	ENSP00000506251.1:n.8737_8746del
ENST00000665585.1:c.1607_1616del
ENST00000680887.1:c.8729_8738del	ENSP00000505508.1:p.Asn2910ThrfsTer14
ENST00000380152.7:c.8729_8738del	ENSP00000369497.3:p.Asn2910ThrfsTer14
ENST00000528762.1:c.291_300del	ENSP00000433168.1:n.291_300del
ENST00000544455.5:c.8729_8738del	ENSP00000439902.1:p.Asn2910ThrfsTer14
NM_000059.3:c.8729_8738del , LRG_293t1:c.8729_8738del	NP_000050.2:p.Asn2910ThrfsTer14
XM_011535203.1:c.8729_8738del	XP_011533505.1:p.Asn2910ThrfsTer14
XM_011535204.1:c.8633_8642del	XP_011533506.1:p.Asn2878ThrfsTer14
XM_011535205.1:c.8729_8738del	XP_011533507.1:p.Asn2910ThrfsTer?
NM_000059.4:c.8729_8738del MANE Select	NP_000050.3:p.Asn2910ThrfsTer14