Canonical Allele Identifier: CA658761144

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2137482
• ClinVar RCV Id: RCV003058410
• dbSNP Id: rs1566235089
• PubMed: PMID:23179792

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32341000del , CM000675.2:g.32341000del	GRCh38
NC_000013.10:g.32915137del , CM000675.1:g.32915137del	GRCh37
NC_000013.9:g.31813137del	NCBI36
NG_012772.3:g.30521del , LRG_293:g.30521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6645del	ENSP00000434898.2:p.Ser2216ProfsTer13
ENST00000528762.2:c.6645del	ENSP00000433168.2:p.Ser2216ProfsTer13
ENST00000530893.7:c.6276del	ENSP00000499438.2:p.Ser2093ProfsTer13
ENST00000665585.2:c.6645del	ENSP00000499570.2:p.Ser2216ProfsTer13
ENST00000666593.2:c.6645del	ENSP00000499256.2:p.Ser2216ProfsTer13
ENST00000700202.2:c.6645del	ENSP00000514856.2:p.Ser2216ProfsTer13
ENST00000380152.8:c.6645del MANE Select	ENSP00000369497.3:p.Ser2216ProfsTer13
ENST00000544455.6:c.6645del	ENSP00000439902.1:p.Ser2216ProfsTer13
ENST00000614259.2:c.6645del	ENSP00000506251.1:p.Ser2216ProfsTer13
ENST00000680887.1:c.6645del	ENSP00000505508.1:p.Ser2216ProfsTer13
ENST00000380152.7:c.6645del	ENSP00000369497.3:p.Ser2216ProfsTer13
ENST00000544455.5:c.6645del	ENSP00000439902.1:p.Ser2216ProfsTer13
ENST00000614259.1:n.6645del
NM_000059.3:c.6645del , LRG_293t1:c.6645del	NP_000050.2:p.Ser2216ProfsTer13
XM_011535203.1:c.6645del	XP_011533505.1:p.Ser2216ProfsTer13
XM_011535204.1:c.6645del	XP_011533506.1:p.Ser2216ProfsTer13
XM_011535205.1:c.6645del	XP_011533507.1:p.Ser2216ProfsTer13
NM_000059.4:c.6645del MANE Select	NP_000050.3:p.Ser2216ProfsTer13