Canonical Allele Identifier: CA247509053

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823482
• ClinVar RCV Id: RCV001019759 ; RCV001873322
• dbSNP Id: rs899192725
• gnomAD v4: 13-32398307-G-A
• MyVariant Identifiers: chr13:g.32972444G>A (hg19) ; chr13:g.32398307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398307G>A , CM000675.2:g.32398307G>A	GRCh38
NC_000013.10:g.32972444G>A , CM000675.1:g.32972444G>A	GRCh37
NC_000013.9:g.31870444G>A	NCBI36
NG_012772.3:g.87828G>A , LRG_293:g.87828G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*317G>A	ENSP00000434898.2:n.*317G>A
ENST00000528762.2:c.*1161G>A	ENSP00000433168.2:n.*1161G>A
ENST00000530893.7:c.9425G>A	ENSP00000499438.2:p.Cys3142Tyr
ENST00000665585.2:c.*1356G>A	ENSP00000499570.2:n.*1356G>A
ENST00000700202.2:c.9743G>A	ENSP00000514856.2:p.Cys3248Tyr
ENST00000700202.1:c.2210G>A	ENSP00000514856.1:p.Cys737Tyr
ENST00000700203.1:n.1921G>A
ENST00000380152.8:c.9794G>A MANE Select	ENSP00000369497.3:p.Cys3265Tyr
ENST00000544455.6:c.9794G>A	ENSP00000439902.1:p.Cys3265Tyr
ENST00000614259.2:c.9802G>A	ENSP00000506251.1:n.9802G>A
ENST00000680887.1:c.9794G>A	ENSP00000505508.1:p.Cys3265Tyr
ENST00000380152.7:c.9794G>A	ENSP00000369497.3:p.Cys3265Tyr
ENST00000533776.1:n.382G>A
ENST00000544455.5:c.9794G>A	ENSP00000439902.1:p.Cys3265Tyr
NM_000059.3:c.9794G>A , LRG_293t1:c.9794G>A	NP_000050.2:p.Cys3265Tyr
XM_011535203.1:c.9794G>A	XP_011533505.1:p.Cys3265Tyr
XM_011535204.1:c.9698G>A	XP_011533506.1:p.Cys3233Tyr
NM_000059.4:c.9794G>A MANE Select	NP_000050.3:p.Cys3265Tyr