Canonical Allele Identifier: CA658761192

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 627790
• ClinVar RCV Id: RCV000771630 ; RCV001855999 ; RCV002477756 ; RCV003472290
• dbSNP Id: rs1566244864
• PubMed: PMID:23458327

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362617del , CM000675.2:g.32362617del	GRCh38
NC_000013.10:g.32936754del , CM000675.1:g.32936754del	GRCh37
NC_000013.9:g.31834754del	NCBI36
NG_012772.3:g.52138del , LRG_293:g.52138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7900del	ENSP00000434898.2:p.Met2634TrpfsTer14
ENST00000528762.2:c.7900del	ENSP00000433168.2:p.Met2634TrpfsTer14
ENST00000530893.7:c.7531del	ENSP00000499438.2:p.Met2511TrpfsTer14
ENST00000665585.2:c.7900del	ENSP00000499570.2:p.Met2634TrpfsTer14
ENST00000666593.2:c.7900del	ENSP00000499256.2:p.Met2634TrpfsTer14
ENST00000700202.2:c.7900del	ENSP00000514856.2:p.Met2634TrpfsTer14
ENST00000700202.1:c.367del	ENSP00000514856.1:p.Met123TrpfsTer14
ENST00000380152.8:c.7900del MANE Select	ENSP00000369497.3:p.Met2634TrpfsTer14
ENST00000544455.6:c.7900del	ENSP00000439902.1:p.Met2634TrpfsTer14
ENST00000614259.2:c.7908del	ENSP00000506251.1:p.Trp2637GlyfsTer6
ENST00000665585.1:c.465del
ENST00000680887.1:c.7900del	ENSP00000505508.1:p.Met2634TrpfsTer14
ENST00000380152.7:c.7900del	ENSP00000369497.3:p.Met2634TrpfsTer14
ENST00000544455.5:c.7900del	ENSP00000439902.1:p.Met2634TrpfsTer14
ENST00000614259.1:n.7908del
NM_000059.3:c.7900del , LRG_293t1:c.7900del	NP_000050.2:p.Met2634TrpfsTer14
XM_011535203.1:c.7900del	XP_011533505.1:p.Met2634TrpfsTer14
XM_011535204.1:c.7804del	XP_011533506.1:p.Met2602TrpfsTer14
XM_011535205.1:c.7900del	XP_011533507.1:p.Met2634TrpfsTer14
NM_000059.4:c.7900del MANE Select	NP_000050.3:p.Met2634TrpfsTer14