Canonical Allele Identifier: CA025435

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52493
• ClinVar RCV Id: RCV000113864 ; RCV000416520 ; RCV000657589 ; RCV000571445 ; RCV003473414
• dbSNP Id: rs80359046
• MyVariant Identifiers: chr13:g.32937406T>A (hg19) ; chr13:g.32363269T>A (hg38)
• PubMed: PMID:9167459 ; PMID:10638982 ; PMID:16683254 ; PMID:19563646 ; PMID:20735817 ; PMID:21913181 ; PMID:22009639 ; PMID:22720145 ; PMID:25103822

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363269T>A , CM000675.2:g.32363269T>A	GRCh38
NC_000013.10:g.32937406T>A , CM000675.1:g.32937406T>A	GRCh37
NC_000013.9:g.31835406T>A	NCBI36
NG_012772.3:g.52790T>A , LRG_293:g.52790T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8067T>A	ENSP00000434898.2:p.Cys2689Ter
ENST00000528762.2:c.8067T>A	ENSP00000433168.2:p.Cys2689Ter
ENST00000530893.7:c.7698T>A	ENSP00000499438.2:p.Cys2566Ter
ENST00000665585.2:c.8067T>A	ENSP00000499570.2:p.Cys2689Ter
ENST00000666593.2:c.8067T>A	ENSP00000499256.2:p.Cys2689Ter
ENST00000700202.2:c.8067T>A	ENSP00000514856.2:p.Cys2689Ter
ENST00000700202.1:c.534T>A	ENSP00000514856.1:p.Cys178Ter
ENST00000380152.8:c.8067T>A MANE Select	ENSP00000369497.3:p.Cys2689Ter
ENST00000544455.6:c.8067T>A	ENSP00000439902.1:p.Cys2689Ter
ENST00000614259.2:c.8075T>A	ENSP00000506251.1:n.8075T>A
ENST00000665585.1:c.632T>A
ENST00000680887.1:c.8067T>A	ENSP00000505508.1:p.Cys2689Ter
ENST00000380152.7:c.8067T>A	ENSP00000369497.3:p.Cys2689Ter
ENST00000544455.5:c.8067T>A	ENSP00000439902.1:p.Cys2689Ter
NM_000059.3:c.8067T>A , LRG_293t1:c.8067T>A	NP_000050.2:p.Cys2689Ter
XM_011535203.1:c.8067T>A	XP_011533505.1:p.Cys2689Ter
XM_011535204.1:c.7971T>A	XP_011533506.1:p.Cys2657Ter
XM_011535205.1:c.8067T>A	XP_011533507.1:p.Cys2689Ter
NM_000059.4:c.8067T>A MANE Select	NP_000050.3:p.Cys2689Ter