Canonical Allele Identifier: CA10589531

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267122
• ClinVar RCV Id: RCV000257268
• dbSNP Id: rs886040805
• MyVariant Identifiers: chr13:g.32953646dupG (hg19) ; chr13:g.32379509dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379509dup , CM000675.2:g.32379509dup	GRCh38
NC_000013.10:g.32953646dup , CM000675.1:g.32953646dup	GRCh37
NC_000013.9:g.31851646dup	NCBI36
NG_012772.3:g.69030dup , LRG_293:g.69030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8947dup	ENSP00000434898.2:p.Asp2983GlyfsTer?
ENST00000528762.2:c.*314dup	ENSP00000433168.2:n.*314dup
ENST00000530893.7:c.8578dup	ENSP00000499438.2:p.Asp2860GlyfsTer?
ENST00000665585.2:c.*509dup	ENSP00000499570.2:n.*509dup
ENST00000666593.2:c.8947dup	ENSP00000499256.2:p.Asp2983GlyfsTer?
ENST00000700202.2:c.8947dup	ENSP00000514856.2:p.Asp2983GlyfsTer18
ENST00000700202.1:c.1414dup	ENSP00000514856.1:p.Asp472GlyfsTer18
ENST00000700203.1:n.1074dup
ENST00000380152.8:c.8947dup MANE Select	ENSP00000369497.3:p.Asp2983GlyfsTer?
ENST00000544455.6:c.8947dup	ENSP00000439902.1:p.Asp2983GlyfsTer?
ENST00000614259.2:c.8955dup	ENSP00000506251.1:n.8955dup
ENST00000665585.1:c.1825dup
ENST00000680887.1:c.8947dup	ENSP00000505508.1:p.Asp2983GlyfsTer?
ENST00000380152.7:c.8947dup	ENSP00000369497.3:p.Asp2983GlyfsTer?
ENST00000544455.5:c.8947dup	ENSP00000439902.1:p.Asp2983GlyfsTer?
NM_000059.3:c.8947dup , LRG_293t1:c.8947dup	NP_000050.2:p.Asp2983GlyfsTer?
XM_011535203.1:c.8947dup	XP_011533505.1:p.Asp2983GlyfsTer?
XM_011535204.1:c.8851dup	XP_011533506.1:p.Asp2951GlyfsTer?
XM_011535205.1:c.8755-241dup	XP_011533507.1:n.8755-241dup
NM_000059.4:c.8947dup MANE Select	NP_000050.3:p.Asp2983GlyfsTer?