Canonical Allele Identifier: CA010355

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51050
• ClinVar RCV Id: RCV000112845 ; RCV000212293 ; RCV000571209 ; RCV001314535 ; RCV001804767
• dbSNP Id: rs80358397
• gnomAD v4: 13-32398664-G-A
• COSMIC: COSM256413 ; COSM256414
• MyVariant Identifiers: chr13:g.32972801G>A (hg19) ; chr13:g.32398664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398664G>A , CM000675.2:g.32398664G>A	GRCh38
NC_000013.10:g.32972801G>A , CM000675.1:g.32972801G>A	GRCh37
NC_000013.9:g.31870801G>A	NCBI36
NG_012772.3:g.88185G>A , LRG_293:g.88185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*674G>A	ENSP00000434898.2:n.*674G>A
ENST00000528762.2:c.*1518G>A	ENSP00000433168.2:n.*1518G>A
ENST00000530893.7:c.9782G>A	ENSP00000499438.2:p.Arg3261Gln
ENST00000665585.2:c.*1713G>A	ENSP00000499570.2:n.*1713G>A
ENST00000700202.2:c.10100G>A	ENSP00000514856.2:p.Arg3367Gln
ENST00000700202.1:c.2567G>A	ENSP00000514856.1:p.Arg856Gln
ENST00000700203.1:n.2278G>A
ENST00000380152.8:c.10151G>A MANE Select	ENSP00000369497.3:p.Arg3384Gln
ENST00000544455.6:c.10151G>A	ENSP00000439902.1:p.Arg3384Gln
ENST00000614259.2:c.10159G>A	ENSP00000506251.1:n.10159G>A
ENST00000680887.1:c.10151G>A	ENSP00000505508.1:p.Arg3384Gln
ENST00000380152.7:c.10151G>A	ENSP00000369497.3:p.Arg3384Gln
ENST00000544455.5:c.10151G>A	ENSP00000439902.1:p.Arg3384Gln
NM_000059.3:c.10151G>A , LRG_293t1:c.10151G>A	NP_000050.2:p.Arg3384Gln
XM_011535203.1:c.10151G>A	XP_011533505.1:p.Arg3384Gln
XM_011535204.1:c.10055G>A	XP_011533506.1:p.Arg3352Gln
NM_000059.4:c.10151G>A MANE Select	NP_000050.3:p.Arg3384Gln