Canonical Allele Identifier: CA387767103

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462541
• ClinVar RCV Id: RCV000525127
• dbSNP Id: rs1064795880
• MyVariant Identifiers: chr13:g.32972576A>T (hg19) ; chr13:g.32398439A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398439A>T , CM000675.2:g.32398439A>T	GRCh38
NC_000013.10:g.32972576A>T , CM000675.1:g.32972576A>T	GRCh37
NC_000013.9:g.31870576A>T	NCBI36
NG_012772.3:g.87960A>T , LRG_293:g.87960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*449A>T	ENSP00000434898.2:n.*449A>T
ENST00000528762.2:c.*1293A>T	ENSP00000433168.2:n.*1293A>T
ENST00000530893.7:c.9557A>T	ENSP00000499438.2:p.Glu3186Val
ENST00000665585.2:c.*1488A>T	ENSP00000499570.2:n.*1488A>T
ENST00000700202.2:c.9875A>T	ENSP00000514856.2:p.Glu3292Val
ENST00000700202.1:c.2342A>T	ENSP00000514856.1:p.Glu781Val
ENST00000700203.1:n.2053A>T
ENST00000380152.8:c.9926A>T MANE Select	ENSP00000369497.3:p.Glu3309Val
ENST00000544455.6:c.9926A>T	ENSP00000439902.1:p.Glu3309Val
ENST00000614259.2:c.9934A>T	ENSP00000506251.1:n.9934A>T
ENST00000680887.1:c.9926A>T	ENSP00000505508.1:p.Glu3309Val
ENST00000380152.7:c.9926A>T	ENSP00000369497.3:p.Glu3309Val
ENST00000533776.1:n.514A>T
ENST00000544455.5:c.9926A>T	ENSP00000439902.1:p.Glu3309Val
NM_000059.3:c.9926A>T , LRG_293t1:c.9926A>T	NP_000050.2:p.Glu3309Val
XM_011535203.1:c.9926A>T	XP_011533505.1:p.Glu3309Val
XM_011535204.1:c.9830A>T	XP_011533506.1:p.Glu3277Val
NM_000059.4:c.9926A>T MANE Select	NP_000050.3:p.Glu3309Val