Canonical Allele Identifier: CA2499222050

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1055910
• ClinVar RCV Id: RCV001364659
• dbSNP Id: rs2137453092

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326617dup , CM000675.2:g.32326617dup	GRCh38
NC_000013.10:g.32900754dup , CM000675.1:g.32900754dup	GRCh37
NC_000013.9:g.31798754dup	NCBI36
NG_012772.3:g.16138dup , LRG_293:g.16138dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.631+4dup	ENSP00000434898.2:n.631+4dup
ENST00000528762.2:c.631+4dup	ENSP00000433168.2:n.631+4dup
ENST00000530893.7:c.262+4dup	ENSP00000499438.2:n.262+4dup
ENST00000665585.2:c.631+4dup	ENSP00000499570.2:n.631+4dup
ENST00000666593.2:c.631+4dup	ENSP00000499256.2:n.631+4dup
ENST00000700202.2:c.631+4dup	ENSP00000514856.2:n.631+4dup
ENST00000700200.1:n.506dup
ENST00000700201.1:c.*410+4dup	ENSP00000514855.1:n.*410+4dup
ENST00000380152.8:c.631+4dup MANE Select	ENSP00000369497.3:n.631+4dup
ENST00000544455.6:c.631+4dup	ENSP00000439902.1:n.631+4dup
ENST00000614259.2:c.631+4dup	ENSP00000506251.1:n.631+4dup
ENST00000680887.1:c.631+4dup	ENSP00000505508.1:n.631+4dup
ENST00000380152.7:c.631+4dup	ENSP00000369497.3:n.631+4dup
ENST00000530893.6:n.829+4dup
ENST00000544455.5:c.631+4dup	ENSP00000439902.1:n.631+4dup
ENST00000614259.1:n.631+4dup
NM_000059.3:c.631+4dup , LRG_293t1:c.631+4dup	NP_000050.2:n.631+4dup
XM_011535203.1:c.631+4dup	XP_011533505.1:n.631+4dup
XM_011535204.1:c.631+4dup	XP_011533506.1:n.631+4dup
XM_011535205.1:c.631+4dup	XP_011533507.1:n.631+4dup
NM_000059.4:c.631+4dup MANE Select	NP_000050.3:n.631+4dup