Canonical Allele Identifier: CA2573149285

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1454723
• ClinVar RCV Id: RCV001939565
• dbSNP Id: rs1593882502

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319165_32319166insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG , CM000675.2:g.32319165_32319166insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	GRCh38
NC_000013.10:g.32893302_32893303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG , CM000675.1:g.32893302_32893303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	GRCh37
NC_000013.9:g.31791302_31791303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	NCBI36
NG_012772.3:g.8686_8687insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG , LRG_293:g.8686_8687insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG
NG_017006.2:g.1198_1199insCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000434898.2:p.Lys53AlafsTer9
ENST00000528762.2:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000433168.2:p.Lys53AlafsTer9
ENST00000530893.7:c.-214_-213insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000499438.2:n.-214_-213insGCCGGGCGCGGTGGCTCACGCCTGTAATC...
ENST00000665585.2:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000499570.2:p.Lys53AlafsTer9
ENST00000666593.2:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000499256.2:p.Lys53AlafsTer9
ENST00000700202.2:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000514856.2:p.Lys53AlafsTer9
ENST00000700200.1:n.191+2638_191+2639insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG
ENST00000700201.1:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000514855.1:p.Lys53AlafsTer9
ENST00000380152.8:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG MANE Select	ENSP00000369497.3:p.Lys53AlafsTer9
ENST00000544455.6:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000439902.1:p.Lys53AlafsTer9
ENST00000614259.2:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000506251.1:p.Lys53AlafsTer9
ENST00000680887.1:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000505508.1:p.Lys53AlafsTer9
ENST00000380152.7:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000369497.3:p.Lys53AlafsTer9
ENST00000530893.6:n.354_355insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG
ENST00000544455.5:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	ENSP00000439902.1:p.Lys53AlafsTer9
ENST00000614259.1:n.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG
NM_000059.3:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG , LRG_293t1:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	NP_000050.2:p.Lys53AlafsTer9
XM_011535203.1:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	XP_011533505.1:p.Lys53AlafsTer9
XM_011535204.1:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	XP_011533506.1:p.Lys53AlafsTer9
XM_011535205.1:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG	XP_011533507.1:p.Lys53AlafsTer9
NM_000059.4:c.156_157insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG MANE Select	NP_000050.3:p.Lys53AlafsTer9