Canonical Allele Identifier: CA2580087458

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2016385
• ClinVar RCV Id: RCV002843872

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379379_32379381del , CM000675.2:g.32379379_32379381del	GRCh38
NC_000013.10:g.32953516_32953518del , CM000675.1:g.32953516_32953518del	GRCh37
NC_000013.9:g.31851516_31851518del	NCBI36
NG_012772.3:g.68900_68902del , LRG_293:g.68900_68902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8817_8819del	ENSP00000434898.2:p.Lys2940del
ENST00000528762.2:c.*184_*186del	ENSP00000433168.2:n.*184_*186del
ENST00000530893.7:c.8448_8450del	ENSP00000499438.2:p.Lys2817del
ENST00000665585.2:c.*379_*381del	ENSP00000499570.2:n.*379_*381del
ENST00000666593.2:c.8817_8819del	ENSP00000499256.2:p.Lys2940del
ENST00000700202.2:c.8817_8819del	ENSP00000514856.2:p.Lys2940del
ENST00000700202.1:c.1284_1286del	ENSP00000514856.1:p.Lys429del
ENST00000700203.1:n.944_946del
ENST00000380152.8:c.8817_8819del MANE Select	ENSP00000369497.3:p.Lys2940del
ENST00000544455.6:c.8817_8819del	ENSP00000439902.1:p.Lys2940del
ENST00000614259.2:c.8825_8827del	ENSP00000506251.1:n.8825_8827del
ENST00000665585.1:c.1695_1697del
ENST00000680887.1:c.8817_8819del	ENSP00000505508.1:p.Lys2940del
ENST00000380152.7:c.8817_8819del	ENSP00000369497.3:p.Lys2940del
ENST00000528762.1:c.379_381del	ENSP00000433168.1:n.379_381del
ENST00000544455.5:c.8817_8819del	ENSP00000439902.1:p.Lys2940del
NM_000059.3:c.8817_8819del , LRG_293t1:c.8817_8819del	NP_000050.2:p.Lys2940del
XM_011535203.1:c.8817_8819del	XP_011533505.1:p.Lys2940del
XM_011535204.1:c.8721_8723del	XP_011533506.1:p.Lys2908del
XM_011535205.1:c.8755-371_8755-369del	XP_011533507.1:n.8755-371_8755-369del
NM_000059.4:c.8817_8819del MANE Select	NP_000050.3:p.Lys2940del