Canonical Allele Identifier: CA010315

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51046
• ClinVar RCV Id: RCV000043717 ; RCV000112843 ; RCV000166051 ; RCV001284405
• dbSNP Id: rs80358395
• gnomAD v4: 13-32398633-A-G
• MyVariant Identifiers: chr13:g.32972770A>G (hg19) ; chr13:g.32398633A>G (hg38)
• PubMed: PMID:10923033 ; PMID:17924331 ; PMID:24817641 ; PMID:25451944

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398633A>G , CM000675.2:g.32398633A>G	GRCh38
NC_000013.10:g.32972770A>G , CM000675.1:g.32972770A>G	GRCh37
NC_000013.9:g.31870770A>G	NCBI36
NG_012772.3:g.88154A>G , LRG_293:g.88154A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*643A>G	ENSP00000434898.2:n.*643A>G
ENST00000528762.2:c.*1487A>G	ENSP00000433168.2:n.*1487A>G
ENST00000530893.7:c.9751A>G	ENSP00000499438.2:p.Thr3251Ala
ENST00000665585.2:c.*1682A>G	ENSP00000499570.2:n.*1682A>G
ENST00000700202.2:c.10069A>G	ENSP00000514856.2:p.Thr3357Ala
ENST00000700202.1:c.2536A>G	ENSP00000514856.1:p.Thr846Ala
ENST00000700203.1:n.2247A>G
ENST00000380152.8:c.10120A>G MANE Select	ENSP00000369497.3:p.Thr3374Ala
ENST00000544455.6:c.10120A>G	ENSP00000439902.1:p.Thr3374Ala
ENST00000614259.2:c.10128A>G	ENSP00000506251.1:n.10128A>G
ENST00000680887.1:c.10120A>G	ENSP00000505508.1:p.Thr3374Ala
ENST00000380152.7:c.10120A>G	ENSP00000369497.3:p.Thr3374Ala
ENST00000544455.5:c.10120A>G	ENSP00000439902.1:p.Thr3374Ala
NM_000059.3:c.10120A>G , LRG_293t1:c.10120A>G	NP_000050.2:p.Thr3374Ala
XM_011535203.1:c.10120A>G	XP_011533505.1:p.Thr3374Ala
XM_011535204.1:c.10024A>G	XP_011533506.1:p.Thr3342Ala
NM_000059.4:c.10120A>G MANE Select	NP_000050.3:p.Thr3374Ala