Canonical Allele Identifier: CA2580614701

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2573296
• ClinVar RCV Id: RCV003316985

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379446delinsCC , CM000675.2:g.32379446delinsCC	GRCh38
NC_000013.10:g.32953583delinsCC , CM000675.1:g.32953583delinsCC	GRCh37
NC_000013.9:g.31851583delinsCC	NCBI36
NG_012772.3:g.68967delinsCC , LRG_293:g.68967delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8884delinsCC	ENSP00000434898.2:p.Leu2962ProfsTer?
ENST00000528762.2:c.*251delinsCC	ENSP00000433168.2:n.*251delinsCC
ENST00000530893.7:c.8515delinsCC	ENSP00000499438.2:p.Leu2839ProfsTer?
ENST00000665585.2:c.*446delinsCC	ENSP00000499570.2:n.*446delinsCC
ENST00000666593.2:c.8884delinsCC	ENSP00000499256.2:p.Leu2962ProfsTer?
ENST00000700202.2:c.8884delinsCC	ENSP00000514856.2:p.Leu2962ProfsTer?
ENST00000700202.1:c.1351delinsCC	ENSP00000514856.1:p.Leu451ProfsTer?
ENST00000700203.1:n.1011delinsCC
ENST00000380152.8:c.8884delinsCC MANE Select	ENSP00000369497.3:p.Leu2962ProfsTer?
ENST00000544455.6:c.8884delinsCC	ENSP00000439902.1:p.Leu2962ProfsTer?
ENST00000614259.2:c.8892delinsCC	ENSP00000506251.1:n.8892delinsCC
ENST00000665585.1:c.1762delinsCC
ENST00000680887.1:c.8884delinsCC	ENSP00000505508.1:p.Leu2962ProfsTer?
ENST00000380152.7:c.8884delinsCC	ENSP00000369497.3:p.Leu2962ProfsTer?
ENST00000528762.1:c.446delinsCC	ENSP00000433168.1:n.446delinsCC
ENST00000544455.5:c.8884delinsCC	ENSP00000439902.1:p.Leu2962ProfsTer?
NM_000059.3:c.8884delinsCC , LRG_293t1:c.8884delinsCC	NP_000050.2:p.Leu2962ProfsTer?
XM_011535203.1:c.8884delinsCC	XP_011533505.1:p.Leu2962ProfsTer?
XM_011535204.1:c.8788delinsCC	XP_011533506.1:p.Leu2930ProfsTer?
XM_011535205.1:c.8755-304delinsCC	XP_011533507.1:n.8755-304delinsCC
NM_000059.4:c.8884delinsCC MANE Select	NP_000050.3:p.Leu2962ProfsTer?