Canonical Allele Identifier: CA2573053825

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1339745
• ClinVar RCV Id: RCV001825133
• dbSNP Id: rs2137580749

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363301del , CM000675.2:g.32363301del	GRCh38
NC_000013.10:g.32937438del , CM000675.1:g.32937438del	GRCh37
NC_000013.9:g.31835438del	NCBI36
NG_012772.3:g.52822del , LRG_293:g.52822del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8099del	ENSP00000434898.2:p.Ile2700AsnfsTer?
ENST00000528762.2:c.8099del	ENSP00000433168.2:p.Ile2700AsnfsTer?
ENST00000530893.7:c.7730del	ENSP00000499438.2:p.Ile2577AsnfsTer?
ENST00000665585.2:c.8099del	ENSP00000499570.2:p.Ile2700AsnfsTer?
ENST00000666593.2:c.8099del	ENSP00000499256.2:p.Ile2700AsnfsTer?
ENST00000700202.2:c.8099del	ENSP00000514856.2:p.Ile2700AsnfsTer?
ENST00000700202.1:c.566del	ENSP00000514856.1:p.Ile189AsnfsTer?
ENST00000380152.8:c.8099del MANE Select	ENSP00000369497.3:p.Ile2700AsnfsTer?
ENST00000544455.6:c.8099del	ENSP00000439902.1:p.Ile2700AsnfsTer?
ENST00000614259.2:c.8107del	ENSP00000506251.1:n.8107del
ENST00000665585.1:c.664del
ENST00000680887.1:c.8099del	ENSP00000505508.1:p.Ile2700AsnfsTer?
ENST00000380152.7:c.8099del	ENSP00000369497.3:p.Ile2700AsnfsTer?
ENST00000544455.5:c.8099del	ENSP00000439902.1:p.Ile2700AsnfsTer?
NM_000059.3:c.8099del , LRG_293t1:c.8099del	NP_000050.2:p.Ile2700AsnfsTer?
XM_011535203.1:c.8099del	XP_011533505.1:p.Ile2700AsnfsTer?
XM_011535204.1:c.8003del	XP_011533506.1:p.Ile2668AsnfsTer?
XM_011535205.1:c.8099del	XP_011533507.1:p.Ile2700AsnfsTer?
NM_000059.4:c.8099del MANE Select	NP_000050.3:p.Ile2700AsnfsTer?