Canonical Allele Identifier: CA658683837

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491394
• ClinVar RCV Id: RCV000583685 ; RCV000811665
• dbSNP Id: rs1555289966
• MyVariant Identifiers: chr13:g.32972460dup (hg19) ; chr13:g.32398323dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398323dup , CM000675.2:g.32398323dup	GRCh38
NC_000013.10:g.32972460dup , CM000675.1:g.32972460dup	GRCh37
NC_000013.9:g.31870460dup	NCBI36
NG_012772.3:g.87844dup , LRG_293:g.87844dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*333dup	ENSP00000434898.2:n.*333dup
ENST00000528762.2:c.*1177dup	ENSP00000433168.2:n.*1177dup
ENST00000530893.7:c.9441dup	ENSP00000499438.2:p.Asp3149GlyfsTer5
ENST00000665585.2:c.*1372dup	ENSP00000499570.2:n.*1372dup
ENST00000700202.2:c.9759dup	ENSP00000514856.2:p.Asp3255GlyfsTer5
ENST00000700202.1:c.2226dup	ENSP00000514856.1:p.Asp744GlyfsTer5
ENST00000700203.1:n.1937dup
ENST00000380152.8:c.9810dup MANE Select	ENSP00000369497.3:p.Asp3272GlyfsTer5
ENST00000544455.6:c.9810dup	ENSP00000439902.1:p.Asp3272GlyfsTer5
ENST00000614259.2:c.9818dup	ENSP00000506251.1:n.9818dup
ENST00000680887.1:c.9810dup	ENSP00000505508.1:p.Asp3272GlyfsTer5
ENST00000380152.7:c.9810dup	ENSP00000369497.3:p.Asp3272GlyfsTer5
ENST00000533776.1:n.398dup
ENST00000544455.5:c.9810dup	ENSP00000439902.1:p.Asp3272GlyfsTer5
NM_000059.3:c.9810dup , LRG_293t1:c.9810dup	NP_000050.2:p.Asp3272GlyfsTer5
XM_011535203.1:c.9810dup	XP_011533505.1:p.Asp3272GlyfsTer5
XM_011535204.1:c.9714dup	XP_011533506.1:p.Asp3240GlyfsTer5
NM_000059.4:c.9810dup MANE Select	NP_000050.3:p.Asp3272GlyfsTer5