Canonical Allele Identifier: CA024149

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126109
• ClinVar RCV Id: RCV000113607
• dbSNP Id: rs1555284737
• MyVariant Identifiers: chr13:g.32915027dupG (hg19) ; chr13:g.32915027_32915028insG (hg19) ; chr13:g.32340890dupG (hg38) ; chr13:g.32340890_32340891insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340890dup , CM000675.2:g.32340890dup	GRCh38
NC_000013.10:g.32915027dup , CM000675.1:g.32915027dup	GRCh37
NC_000013.9:g.31813027dup	NCBI36
NG_012772.3:g.30411dup , LRG_293:g.30411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6535dup	ENSP00000434898.2:p.Val2179GlyfsTer10
ENST00000528762.2:c.6535dup	ENSP00000433168.2:p.Val2179GlyfsTer10
ENST00000530893.7:c.6166dup	ENSP00000499438.2:p.Val2056GlyfsTer10
ENST00000665585.2:c.6535dup	ENSP00000499570.2:p.Val2179GlyfsTer10
ENST00000666593.2:c.6535dup	ENSP00000499256.2:p.Val2179GlyfsTer10
ENST00000700202.2:c.6535dup	ENSP00000514856.2:p.Val2179GlyfsTer10
ENST00000380152.8:c.6535dup MANE Select	ENSP00000369497.3:p.Val2179GlyfsTer10
ENST00000544455.6:c.6535dup	ENSP00000439902.1:p.Val2179GlyfsTer10
ENST00000614259.2:c.6535dup	ENSP00000506251.1:p.Val2179GlyfsTer10
ENST00000680887.1:c.6535dup	ENSP00000505508.1:p.Val2179GlyfsTer10
ENST00000380152.7:c.6535dup	ENSP00000369497.3:p.Val2179GlyfsTer10
ENST00000544455.5:c.6535dup	ENSP00000439902.1:p.Val2179GlyfsTer10
ENST00000614259.1:n.6535dup
NM_000059.3:c.6535dup , LRG_293t1:c.6535dup	NP_000050.2:p.Val2179GlyfsTer10
XM_011535203.1:c.6535dup	XP_011533505.1:p.Val2179GlyfsTer10
XM_011535204.1:c.6535dup	XP_011533506.1:p.Val2179GlyfsTer10
XM_011535205.1:c.6535dup	XP_011533507.1:p.Val2179GlyfsTer10
NM_000059.4:c.6535dup MANE Select	NP_000050.3:p.Val2179GlyfsTer10