Canonical Allele Identifier: CA1139663205

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 950774
• ClinVar RCV Id: RCV001222558
• dbSNP Id: rs2073051761

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398359del , CM000675.2:g.32398359del	GRCh38
NC_000013.10:g.32972496del , CM000675.1:g.32972496del	GRCh37
NC_000013.9:g.31870496del	NCBI36
NG_012772.3:g.87880del , LRG_293:g.87880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*369del	ENSP00000434898.2:n.*369del
ENST00000528762.2:c.*1213del	ENSP00000433168.2:n.*1213del
ENST00000530893.7:c.9477del	ENSP00000499438.2:p.Val3160LeufsTer?
ENST00000665585.2:c.*1408del	ENSP00000499570.2:n.*1408del
ENST00000700202.2:c.9795del	ENSP00000514856.2:p.Val3266LeufsTer?
ENST00000700202.1:c.2262del	ENSP00000514856.1:p.Val755LeufsTer?
ENST00000700203.1:n.1973del
ENST00000380152.8:c.9846del MANE Select	ENSP00000369497.3:p.Val3283LeufsTer?
ENST00000544455.6:c.9846del	ENSP00000439902.1:p.Val3283LeufsTer?
ENST00000614259.2:c.9854del	ENSP00000506251.1:n.9854del
ENST00000680887.1:c.9846del	ENSP00000505508.1:p.Val3283LeufsTer?
ENST00000380152.7:c.9846del	ENSP00000369497.3:p.Val3283LeufsTer?
ENST00000533776.1:n.434del
ENST00000544455.5:c.9846del	ENSP00000439902.1:p.Val3283LeufsTer?
NM_000059.3:c.9846del , LRG_293t1:c.9846del	NP_000050.2:p.Val3283LeufsTer?
XM_011535203.1:c.9846del	XP_011533505.1:p.Val3283LeufsTer?
XM_011535204.1:c.9750del	XP_011533506.1:p.Val3251LeufsTer?
NM_000059.4:c.9846del MANE Select	NP_000050.3:p.Val3283LeufsTer?