Canonical Allele Identifier: CA2580087360

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1760508
• ClinVar RCV Id: RCV002409727

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357886_32357888delinsCC , CM000675.2:g.32357886_32357888delinsCC	GRCh38
NC_000013.10:g.32932023_32932025delinsCC , CM000675.1:g.32932023_32932025delinsCC	GRCh37
NC_000013.9:g.31830023_31830025delinsCC	NCBI36
NG_012772.3:g.47407_47409delinsCC , LRG_293:g.47407_47409delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7762_7764delinsCC	ENSP00000434898.2:p.Ile2588ProfsTer?
ENST00000528762.2:c.7762_7764delinsCC	ENSP00000433168.2:p.Ile2588ProfsTer?
ENST00000530893.7:c.7393_7395delinsCC	ENSP00000499438.2:p.Ile2465ProfsTer?
ENST00000665585.2:c.7762_7764delinsCC	ENSP00000499570.2:p.Ile2588ProfsTer?
ENST00000666593.2:c.7762_7764delinsCC	ENSP00000499256.2:p.Ile2588ProfsTer?
ENST00000700202.2:c.7762_7764delinsCC	ENSP00000514856.2:p.Ile2588ProfsTer?
ENST00000700202.1:c.229_231delinsCC	ENSP00000514856.1:p.Ile77ProfsTer?
ENST00000380152.8:c.7762_7764delinsCC MANE Select	ENSP00000369497.3:p.Ile2588ProfsTer?
ENST00000544455.6:c.7762_7764delinsCC	ENSP00000439902.1:p.Ile2588ProfsTer?
ENST00000614259.2:c.7762_7764delinsCC	ENSP00000506251.1:p.Ile2588ProfsTer21
ENST00000665585.1:c.327_329delinsCC
ENST00000680887.1:c.7762_7764delinsCC	ENSP00000505508.1:p.Ile2588ProfsTer?
ENST00000380152.7:c.7762_7764delinsCC	ENSP00000369497.3:p.Ile2588ProfsTer?
ENST00000544455.5:c.7762_7764delinsCC	ENSP00000439902.1:p.Ile2588ProfsTer?
ENST00000614259.1:n.7762_7764delinsCC
NM_000059.3:c.7762_7764delinsCC , LRG_293t1:c.7762_7764delinsCC	NP_000050.2:p.Ile2588ProfsTer?
XM_011535203.1:c.7762_7764delinsCC	XP_011533505.1:p.Ile2588ProfsTer?
XM_011535204.1:c.7666_7668delinsCC	XP_011533506.1:p.Ile2556ProfsTer?
XM_011535205.1:c.7762_7764delinsCC	XP_011533507.1:p.Ile2588ProfsTer?
NM_000059.4:c.7762_7764delinsCC MANE Select	NP_000050.3:p.Ile2588ProfsTer?