Canonical Allele Identifier: CA026315

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91536
• ClinVar RCV Id: RCV000077053 ; RCV000164700 ; RCV000215513 ; RCV000537252 ; RCV003460730
• dbSNP Id: rs398122624
• MyVariant Identifiers: chr13:g.32972507T>A (hg19) ; chr13:g.32398370T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398370T>A , CM000675.2:g.32398370T>A	GRCh38
NC_000013.10:g.32972507T>A , CM000675.1:g.32972507T>A	GRCh37
NC_000013.9:g.31870507T>A	NCBI36
NG_012772.3:g.87891T>A , LRG_293:g.87891T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*380T>A	ENSP00000434898.2:n.*380T>A
ENST00000528762.2:c.*1224T>A	ENSP00000433168.2:n.*1224T>A
ENST00000530893.7:c.9488T>A	ENSP00000499438.2:p.Ile3163Asn
ENST00000665585.2:c.*1419T>A	ENSP00000499570.2:n.*1419T>A
ENST00000700202.2:c.9806T>A	ENSP00000514856.2:p.Ile3269Asn
ENST00000700202.1:c.2273T>A	ENSP00000514856.1:p.Ile758Asn
ENST00000700203.1:n.1984T>A
ENST00000380152.8:c.9857T>A MANE Select	ENSP00000369497.3:p.Ile3286Asn
ENST00000544455.6:c.9857T>A	ENSP00000439902.1:p.Ile3286Asn
ENST00000614259.2:c.9865T>A	ENSP00000506251.1:n.9865T>A
ENST00000680887.1:c.9857T>A	ENSP00000505508.1:p.Ile3286Asn
ENST00000380152.7:c.9857T>A	ENSP00000369497.3:p.Ile3286Asn
ENST00000533776.1:n.445T>A
ENST00000544455.5:c.9857T>A	ENSP00000439902.1:p.Ile3286Asn
NM_000059.3:c.9857T>A , LRG_293t1:c.9857T>A	NP_000050.2:p.Ile3286Asn
XM_011535203.1:c.9857T>A	XP_011533505.1:p.Ile3286Asn
XM_011535204.1:c.9761T>A	XP_011533506.1:p.Ile3254Asn
NM_000059.4:c.9857T>A MANE Select	NP_000050.3:p.Ile3286Asn