Canonical Allele Identifier: CA913188560

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 928389
• ClinVar RCV Id: RCV001192249
• dbSNP Id: rs2072344896

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326158dup , CM000675.2:g.32326158dup	GRCh38
NC_000013.10:g.32900295dup , CM000675.1:g.32900295dup	GRCh37
NC_000013.9:g.31798295dup	NCBI36
NG_012772.3:g.15679dup , LRG_293:g.15679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.475+8dup	ENSP00000434898.2:n.475+8dup
ENST00000528762.2:c.475+8dup	ENSP00000433168.2:n.475+8dup
ENST00000530893.7:c.106+8dup	ENSP00000499438.2:n.106+8dup
ENST00000665585.2:c.475+8dup	ENSP00000499570.2:n.475+8dup
ENST00000666593.2:c.475+8dup	ENSP00000499256.2:n.475+8dup
ENST00000700202.2:c.475+8dup	ENSP00000514856.2:n.475+8dup
ENST00000700200.1:n.346+8dup
ENST00000700201.1:c.*254+8dup	ENSP00000514855.1:n.*254+8dup
ENST00000380152.8:c.475+8dup MANE Select	ENSP00000369497.3:n.475+8dup
ENST00000544455.6:c.475+8dup	ENSP00000439902.1:n.475+8dup
ENST00000614259.2:c.475+8dup	ENSP00000506251.1:n.475+8dup
ENST00000680887.1:c.475+8dup	ENSP00000505508.1:n.475+8dup
ENST00000380152.7:c.475+8dup	ENSP00000369497.3:n.475+8dup
ENST00000530893.6:n.673+8dup
ENST00000544455.5:c.475+8dup	ENSP00000439902.1:n.475+8dup
ENST00000614259.1:n.475+8dup
NM_000059.3:c.475+8dup , LRG_293t1:c.475+8dup	NP_000050.2:n.475+8dup
XM_011535203.1:c.475+8dup	XP_011533505.1:n.475+8dup
XM_011535204.1:c.475+8dup	XP_011533506.1:n.475+8dup
XM_011535205.1:c.475+8dup	XP_011533507.1:n.475+8dup
NM_000059.4:c.475+8dup MANE Select	NP_000050.3:n.475+8dup