Canonical Allele Identifier: CA10589554

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267147
• ClinVar RCV Id: RCV000256492
• dbSNP Id: rs886040826
• MyVariant Identifiers: chr13:g.32954280dupC (hg19) ; chr13:g.32380143dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380143dup , CM000675.2:g.32380143dup	GRCh38
NC_000013.10:g.32954280dup , CM000675.1:g.32954280dup	GRCh37
NC_000013.9:g.31852280dup	NCBI36
NG_012772.3:g.69664dup , LRG_293:g.69664dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9254dup	ENSP00000434898.2:p.Gly3086ArgfsTer25
ENST00000528762.2:c.*621dup	ENSP00000433168.2:n.*621dup
ENST00000530893.7:c.8885dup	ENSP00000499438.2:p.Gly2963ArgfsTer25
ENST00000665585.2:c.*816dup	ENSP00000499570.2:n.*816dup
ENST00000666593.2:c.9254dup	ENSP00000499256.2:p.Val3086SerfsTer?
ENST00000700202.2:c.9203dup	ENSP00000514856.2:p.Gly3069ArgfsTer25
ENST00000700202.1:c.1670dup	ENSP00000514856.1:p.Gly558ArgfsTer25
ENST00000700203.1:n.1381dup
ENST00000380152.8:c.9254dup MANE Select	ENSP00000369497.3:p.Gly3086ArgfsTer25
ENST00000544455.6:c.9254dup	ENSP00000439902.1:p.Gly3086ArgfsTer25
ENST00000614259.2:c.9262dup	ENSP00000506251.1:n.9262dup
ENST00000665585.1:c.2132dup
ENST00000666593.1:c.137dup	ENSP00000499256.1:p.Val47SerfsTer?
ENST00000680887.1:c.9254dup	ENSP00000505508.1:p.Gly3086ArgfsTer25
ENST00000380152.7:c.9254dup	ENSP00000369497.3:p.Gly3086ArgfsTer25
ENST00000470094.1:c.211dup
ENST00000544455.5:c.9254dup	ENSP00000439902.1:p.Gly3086ArgfsTer25
NM_000059.3:c.9254dup , LRG_293t1:c.9254dup	NP_000050.2:p.Gly3086ArgfsTer25
XM_011535203.1:c.9254dup	XP_011533505.1:p.Gly3086ArgfsTer25
XM_011535204.1:c.9158dup	XP_011533506.1:p.Gly3054ArgfsTer25
NM_000059.4:c.9254dup MANE Select	NP_000050.3:p.Gly3086ArgfsTer25