Canonical Allele Identifier: CA2695199714

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2673892
• ClinVar RCV Id: RCV003450509

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379751del , CM000675.2:g.32379751del	GRCh38
NC_000013.10:g.32953888del , CM000675.1:g.32953888del	GRCh37
NC_000013.9:g.31851888del	NCBI36
NG_012772.3:g.69272del , LRG_293:g.69272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8955del	ENSP00000434898.2:p.Ile2986TyrfsTer2
ENST00000528762.2:c.*322del	ENSP00000433168.2:n.*322del
ENST00000530893.7:c.8586del	ENSP00000499438.2:p.Ile2863TyrfsTer2
ENST00000665585.2:c.*517del	ENSP00000499570.2:n.*517del
ENST00000666593.2:c.8955del	ENSP00000499256.2:p.Ile2986TyrfsTer2
ENST00000700202.2:c.8954-50del	ENSP00000514856.2:n.8954-50del
ENST00000700202.1:c.1421-50del	ENSP00000514856.1:n.1421-50del
ENST00000700203.1:n.1082del
ENST00000380152.8:c.8955del MANE Select	ENSP00000369497.3:p.Ile2986TyrfsTer2
ENST00000544455.6:c.8955del	ENSP00000439902.1:p.Ile2986TyrfsTer2
ENST00000614259.2:c.8963del	ENSP00000506251.1:n.8963del
ENST00000665585.1:c.1833del
ENST00000680887.1:c.8955del	ENSP00000505508.1:p.Ile2986TyrfsTer2
ENST00000380152.7:c.8955del	ENSP00000369497.3:p.Ile2986TyrfsTer2
ENST00000544455.5:c.8955del	ENSP00000439902.1:p.Ile2986TyrfsTer2
NM_000059.3:c.8955del , LRG_293t1:c.8955del	NP_000050.2:p.Ile2986TyrfsTer2
XM_011535203.1:c.8955del	XP_011533505.1:p.Ile2986TyrfsTer2
XM_011535204.1:c.8859del	XP_011533506.1:p.Ile2954TyrfsTer2
XM_011535205.1:c.8756del	XP_011533507.1:p.Leu2919TyrfsTer?
NM_000059.4:c.8955del MANE Select	NP_000050.3:p.Ile2986TyrfsTer2