Canonical Allele Identifier: CA010473

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142649
• ClinVar RCV Id: RCV000131989 ; RCV000637786 ; RCV002267883
• dbSNP Id: rs587782614
• gnomAD v4: 13-32398724-G-A
• MyVariant Identifiers: chr13:g.32972861G>A (hg19) ; chr13:g.32398724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398724G>A , CM000675.2:g.32398724G>A	GRCh38
NC_000013.10:g.32972861G>A , CM000675.1:g.32972861G>A	GRCh37
NC_000013.9:g.31870861G>A	NCBI36
NG_012772.3:g.88245G>A , LRG_293:g.88245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*734G>A	ENSP00000434898.2:n.*734G>A
ENST00000528762.2:c.*1578G>A	ENSP00000433168.2:n.*1578G>A
ENST00000530893.7:c.9842G>A	ENSP00000499438.2:p.Cys3281Tyr
ENST00000665585.2:c.*1773G>A	ENSP00000499570.2:n.*1773G>A
ENST00000700202.2:c.10160G>A	ENSP00000514856.2:p.Cys3387Tyr
ENST00000700202.1:c.2627G>A	ENSP00000514856.1:p.Cys876Tyr
ENST00000700203.1:n.2338G>A
ENST00000380152.8:c.10211G>A MANE Select	ENSP00000369497.3:p.Cys3404Tyr
ENST00000544455.6:c.10211G>A	ENSP00000439902.1:p.Cys3404Tyr
ENST00000614259.2:c.10219G>A	ENSP00000506251.1:n.10219G>A
ENST00000680887.1:c.10211G>A	ENSP00000505508.1:p.Cys3404Tyr
ENST00000380152.7:c.10211G>A	ENSP00000369497.3:p.Cys3404Tyr
ENST00000544455.5:c.10211G>A	ENSP00000439902.1:p.Cys3404Tyr
NM_000059.3:c.10211G>A , LRG_293t1:c.10211G>A	NP_000050.2:p.Cys3404Tyr
XM_011535203.1:c.10211G>A	XP_011533505.1:p.Cys3404Tyr
XM_011535204.1:c.10115G>A	XP_011533506.1:p.Cys3372Tyr
NM_000059.4:c.10211G>A MANE Select	NP_000050.3:p.Cys3404Tyr