Canonical Allele Identifier: CA10589032

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266888
• ClinVar RCV Id: RCV000257291
• dbSNP Id: rs886040603
• MyVariant Identifiers: chr13:g.32900685_32900686insG (hg19) ; chr13:g.32326548_32326549insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326548_32326549insG , CM000675.2:g.32326548_32326549insG	GRCh38
NC_000013.10:g.32900685_32900686insG , CM000675.1:g.32900685_32900686insG	GRCh37
NC_000013.9:g.31798685_31798686insG	NCBI36
NG_012772.3:g.16069_16070insG , LRG_293:g.16069_16070insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.566_567insG	ENSP00000434898.2:p.Asp189GlufsTer3
ENST00000528762.2:c.566_567insG	ENSP00000433168.2:p.Asp189GlufsTer3
ENST00000530893.7:c.197_198insG	ENSP00000499438.2:p.Asp66GlufsTer3
ENST00000665585.2:c.566_567insG	ENSP00000499570.2:p.Asp189GlufsTer3
ENST00000666593.2:c.566_567insG	ENSP00000499256.2:p.Asp189GlufsTer3
ENST00000700202.2:c.566_567insG	ENSP00000514856.2:p.Asp189GlufsTer3
ENST00000700200.1:n.437_438insG
ENST00000700201.1:c.*345_*346insG	ENSP00000514855.1:n.*345_*346insG
ENST00000380152.8:c.566_567insG MANE Select	ENSP00000369497.3:p.Asp189GlufsTer3
ENST00000544455.6:c.566_567insG	ENSP00000439902.1:p.Asp189GlufsTer3
ENST00000614259.2:c.566_567insG	ENSP00000506251.1:p.Asp189GlufsTer3
ENST00000680887.1:c.566_567insG	ENSP00000505508.1:p.Asp189GlufsTer3
ENST00000380152.7:c.566_567insG	ENSP00000369497.3:p.Asp189GlufsTer3
ENST00000530893.6:n.764_765insG
ENST00000544455.5:c.566_567insG	ENSP00000439902.1:p.Asp189GlufsTer3
ENST00000614259.1:n.566_567insG
NM_000059.3:c.566_567insG , LRG_293t1:c.566_567insG	NP_000050.2:p.Asp189GlufsTer3
XM_011535203.1:c.566_567insG	XP_011533505.1:p.Asp189GlufsTer3
XM_011535204.1:c.566_567insG	XP_011533506.1:p.Asp189GlufsTer3
XM_011535205.1:c.566_567insG	XP_011533507.1:p.Asp189GlufsTer3
NM_000059.4:c.566_567insG MANE Select	NP_000050.3:p.Asp189GlufsTer3