Canonical Allele Identifier: CA10589412

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266985
• ClinVar RCV Id: RCV000257295 ; RCV000588187 ; RCV000774999
• dbSNP Id: rs80359638
• MyVariant Identifiers: chr13:g.32929100dupA (hg19) ; chr13:g.32354963dupA (hg38)
• PubMed: PMID:23961350

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354963dup , CM000675.2:g.32354963dup	GRCh38
NC_000013.10:g.32929100dup , CM000675.1:g.32929100dup	GRCh37
NC_000013.9:g.31827100dup	NCBI36
NG_012772.3:g.44484dup , LRG_293:g.44484dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7110dup	ENSP00000434898.2:p.Ser2371IlefsTer21
ENST00000528762.2:c.7110dup	ENSP00000433168.2:p.Ser2371IlefsTer21
ENST00000530893.7:c.6741dup	ENSP00000499438.2:p.Ser2248IlefsTer21
ENST00000665585.2:c.7110dup	ENSP00000499570.2:p.Ser2371IlefsTer21
ENST00000666593.2:c.7110dup	ENSP00000499256.2:p.Ser2371IlefsTer21
ENST00000700202.2:c.7110dup	ENSP00000514856.2:p.Ser2371IlefsTer21
ENST00000380152.8:c.7110dup MANE Select	ENSP00000369497.3:p.Ser2371IlefsTer21
ENST00000544455.6:c.7110dup	ENSP00000439902.1:p.Ser2371IlefsTer21
ENST00000614259.2:c.7110dup	ENSP00000506251.1:p.Ser2371IlefsTer21
ENST00000680887.1:c.7110dup	ENSP00000505508.1:p.Ser2371IlefsTer21
ENST00000380152.7:c.7110dup	ENSP00000369497.3:p.Ser2371IlefsTer21
ENST00000544455.5:c.7110dup	ENSP00000439902.1:p.Ser2371IlefsTer21
ENST00000614259.1:n.7110dup
NM_000059.3:c.7110dup , LRG_293t1:c.7110dup	NP_000050.2:p.Ser2371IlefsTer21
XM_011535203.1:c.7110dup	XP_011533505.1:p.Ser2371IlefsTer21
XM_011535204.1:c.7014dup	XP_011533506.1:p.Ser2339IlefsTer21
XM_011535205.1:c.7110dup	XP_011533507.1:p.Ser2371IlefsTer21
NM_000059.4:c.7110dup MANE Select	NP_000050.3:p.Ser2371IlefsTer21