Canonical Allele Identifier: CA2697551769

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2745100
• ClinVar RCV Id: RCV003531086

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363301_32363315del , CM000675.2:g.32363301_32363315del	GRCh38
NC_000013.10:g.32937438_32937452del , CM000675.1:g.32937438_32937452del	GRCh37
NC_000013.9:g.31835438_31835452del	NCBI36
NG_012772.3:g.52822_52836del , LRG_293:g.52822_52836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8099_8113del	ENSP00000434898.2:p.Ile2700_Ser2704del
ENST00000528762.2:c.8099_8113del	ENSP00000433168.2:p.Ile2700_Ser2704del
ENST00000530893.7:c.7730_7744del	ENSP00000499438.2:p.Ile2577_Ser2581del
ENST00000665585.2:c.8099_8113del	ENSP00000499570.2:p.Ile2700_Ser2704del
ENST00000666593.2:c.8099_8113del	ENSP00000499256.2:p.Ile2700_Ser2704del
ENST00000700202.2:c.8099_8113del	ENSP00000514856.2:p.Ile2700_Ser2704del
ENST00000700202.1:c.566_580del	ENSP00000514856.1:p.Ile189_Ser193del
ENST00000380152.8:c.8099_8113del MANE Select	ENSP00000369497.3:p.Ile2700_Ser2704del
ENST00000544455.6:c.8099_8113del	ENSP00000439902.1:p.Ile2700_Ser2704del
ENST00000614259.2:c.8107_8121del	ENSP00000506251.1:n.8107_8121del
ENST00000665585.1:c.664_678del
ENST00000680887.1:c.8099_8113del	ENSP00000505508.1:p.Ile2700_Ser2704del
ENST00000380152.7:c.8099_8113del	ENSP00000369497.3:p.Ile2700_Ser2704del
ENST00000544455.5:c.8099_8113del	ENSP00000439902.1:p.Ile2700_Ser2704del
NM_000059.3:c.8099_8113del , LRG_293t1:c.8099_8113del	NP_000050.2:p.Ile2700_Ser2704del
XM_011535203.1:c.8099_8113del	XP_011533505.1:p.Ile2700_Ser2704del
XM_011535204.1:c.8003_8017del	XP_011533506.1:p.Ile2668_Ser2672del
XM_011535205.1:c.8099_8113del	XP_011533507.1:p.Ile2700_Ser2704del
NM_000059.4:c.8099_8113del MANE Select	NP_000050.3:p.Ile2700_Ser2704del