Canonical Allele Identifier: CA2739277518

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2851342
• ClinVar RCV Id: RCV003644596

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370553_32370554insGAATATGAAAT , CM000675.2:g.32370553_32370554insGAATATGAAAT	GRCh38
NC_000013.10:g.32944690_32944691insGAATATGAAAT , CM000675.1:g.32944690_32944691insGAATATGAAAT	GRCh37
NC_000013.9:g.31842690_31842691insGAATATGAAAT	NCBI36
NG_012772.3:g.60074_60075insGAATATGAAAT , LRG_293:g.60074_60075insGAATATGAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8483_8484insGAATATGAAAT	ENSP00000434898.2:p.Ile2828MetfsTer?
ENST00000528762.2:c.8483_8484insGAATATGAAAT	ENSP00000433168.2:p.Ile2828MetfsTer?
ENST00000530893.7:c.8114_8115insGAATATGAAAT	ENSP00000499438.2:p.Ile2705MetfsTer?
ENST00000665585.2:c.8483_8484insGAATATGAAAT	ENSP00000499570.2:p.Ile2828MetfsTer?
ENST00000666593.2:c.8483_8484insGAATATGAAAT	ENSP00000499256.2:p.Ile2828MetfsTer?
ENST00000700202.2:c.8483_8484insGAATATGAAAT	ENSP00000514856.2:p.Ile2828MetfsTer?
ENST00000700202.1:c.950_951insGAATATGAAAT	ENSP00000514856.1:p.Ile317MetfsTer?
ENST00000380152.8:c.8483_8484insGAATATGAAAT MANE Select	ENSP00000369497.3:p.Ile2828MetfsTer?
ENST00000544455.6:c.8483_8484insGAATATGAAAT	ENSP00000439902.1:p.Ile2828MetfsTer?
ENST00000614259.2:c.8491_8492insGAATATGAAAT	ENSP00000506251.1:n.8491_8492insGAATATGAAAT
ENST00000665585.1:c.1048_1049insGAATATGAAAT
ENST00000680887.1:c.8483_8484insGAATATGAAAT	ENSP00000505508.1:p.Ile2828MetfsTer?
ENST00000380152.7:c.8483_8484insGAATATGAAAT	ENSP00000369497.3:p.Ile2828MetfsTer?
ENST00000544455.5:c.8483_8484insGAATATGAAAT	ENSP00000439902.1:p.Ile2828MetfsTer?
NM_000059.3:c.8483_8484insGAATATGAAAT , LRG_293t1:c.8483_8484insGAATATGAAAT	NP_000050.2:p.Ile2828MetfsTer?
XM_011535203.1:c.8483_8484insGAATATGAAAT	XP_011533505.1:p.Ile2828MetfsTer?
XM_011535204.1:c.8387_8388insGAATATGAAAT	XP_011533506.1:p.Ile2796MetfsTer?
XM_011535205.1:c.8483_8484insGAATATGAAAT	XP_011533507.1:p.Ile2828MetfsTer?
NM_000059.4:c.8483_8484insGAATATGAAAT MANE Select	NP_000050.3:p.Ile2828MetfsTer?