Canonical Allele Identifier: CA6941373

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254631
• ClinVar RCV Id: RCV000241059 ; RCV001019107 ; RCV001193363
• dbSNP Id: rs778782209
• ExAC: 13:32968854 C / CG
• gnomAD v2: 13-32968854-C-CG
• MyVariant Identifiers: chr13:g.32968855dupG (hg19) ; chr13:g.32968854_32968855insG (hg19) ; chr13:g.32394718dupG (hg38) ; chr13:g.32394717_32394718insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394718dup , CM000675.2:g.32394718dup	GRCh38
NC_000013.10:g.32968855dup , CM000675.1:g.32968855dup	GRCh37
NC_000013.9:g.31866855dup	NCBI36
NG_012772.3:g.84239dup , LRG_293:g.84239dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9286dup	ENSP00000434898.2:p.Glu3096GlyfsTer15
ENST00000528762.2:c.*653dup	ENSP00000433168.2:n.*653dup
ENST00000530893.7:c.8917dup	ENSP00000499438.2:p.Glu2973GlyfsTer15
ENST00000665585.2:c.*848dup	ENSP00000499570.2:n.*848dup
ENST00000666593.2:c.*131dup	ENSP00000499256.2:n.*131dup
ENST00000700202.2:c.9235dup	ENSP00000514856.2:p.Glu3079GlyfsTer15
ENST00000700202.1:c.1702dup	ENSP00000514856.1:p.Glu568GlyfsTer15
ENST00000700203.1:n.1413dup
ENST00000380152.8:c.9286dup MANE Select	ENSP00000369497.3:p.Glu3096GlyfsTer15
ENST00000544455.6:c.9286dup	ENSP00000439902.1:p.Glu3096GlyfsTer15
ENST00000614259.2:c.9294dup	ENSP00000506251.1:n.9294dup
ENST00000665585.1:c.2164dup
ENST00000666593.1:c.308dup	ENSP00000499256.1:n.308dup
ENST00000680887.1:c.9286dup	ENSP00000505508.1:p.Glu3096GlyfsTer15
ENST00000380152.7:c.9286dup	ENSP00000369497.3:p.Glu3096GlyfsTer15
ENST00000470094.1:c.243dup
ENST00000544455.5:c.9286dup	ENSP00000439902.1:p.Glu3096GlyfsTer15
NM_000059.3:c.9286dup , LRG_293t1:c.9286dup	NP_000050.2:p.Glu3096GlyfsTer15
XM_011535203.1:c.9286dup	XP_011533505.1:p.Glu3096GlyfsTer15
XM_011535204.1:c.9190dup	XP_011533506.1:p.Glu3064GlyfsTer15
NM_000059.4:c.9286dup MANE Select	NP_000050.3:p.Glu3096GlyfsTer15