Canonical Allele Identifier: CA387767286

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489803
• ClinVar RCV Id: RCV000579426 ; RCV000813529
• dbSNP Id: rs1555290010
• MyVariant Identifiers: chr13:g.32972597A>T (hg19) ; chr13:g.32398460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398460A>T , CM000675.2:g.32398460A>T	GRCh38
NC_000013.10:g.32972597A>T , CM000675.1:g.32972597A>T	GRCh37
NC_000013.9:g.31870597A>T	NCBI36
NG_012772.3:g.87981A>T , LRG_293:g.87981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*470A>T	ENSP00000434898.2:n.*470A>T
ENST00000528762.2:c.*1314A>T	ENSP00000433168.2:n.*1314A>T
ENST00000530893.7:c.9578A>T	ENSP00000499438.2:p.Glu3193Val
ENST00000665585.2:c.*1509A>T	ENSP00000499570.2:n.*1509A>T
ENST00000700202.2:c.9896A>T	ENSP00000514856.2:p.Glu3299Val
ENST00000700202.1:c.2363A>T	ENSP00000514856.1:p.Glu788Val
ENST00000700203.1:n.2074A>T
ENST00000380152.8:c.9947A>T MANE Select	ENSP00000369497.3:p.Glu3316Val
ENST00000544455.6:c.9947A>T	ENSP00000439902.1:p.Glu3316Val
ENST00000614259.2:c.9955A>T	ENSP00000506251.1:n.9955A>T
ENST00000680887.1:c.9947A>T	ENSP00000505508.1:p.Glu3316Val
ENST00000380152.7:c.9947A>T	ENSP00000369497.3:p.Glu3316Val
ENST00000544455.5:c.9947A>T	ENSP00000439902.1:p.Glu3316Val
NM_000059.3:c.9947A>T , LRG_293t1:c.9947A>T	NP_000050.2:p.Glu3316Val
XM_011535203.1:c.9947A>T	XP_011533505.1:p.Glu3316Val
XM_011535204.1:c.9851A>T	XP_011533506.1:p.Glu3284Val
NM_000059.4:c.9947A>T MANE Select	NP_000050.3:p.Glu3316Val