Canonical Allele Identifier: CA2825002142

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3228950
• ClinVar RCV Id: RCV004522577

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362536_32362538delinsCCC , CM000675.2:g.32362536_32362538delinsCCC	GRCh38
NC_000013.10:g.32936673_32936675delinsCCC , CM000675.1:g.32936673_32936675delinsCCC	GRCh37
NC_000013.9:g.31834673_31834675delinsCCC	NCBI36
NG_012772.3:g.52057_52059delinsCCC , LRG_293:g.52057_52059delinsCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7819_7821delinsCCC	ENSP00000434898.2:p.Thr2607Pro
ENST00000528762.2:c.7819_7821delinsCCC	ENSP00000433168.2:p.Thr2607Pro
ENST00000530893.7:c.7450_7452delinsCCC	ENSP00000499438.2:p.Thr2484Pro
ENST00000665585.2:c.7819_7821delinsCCC	ENSP00000499570.2:p.Thr2607Pro
ENST00000666593.2:c.7819_7821delinsCCC	ENSP00000499256.2:p.Thr2607Pro
ENST00000700202.2:c.7819_7821delinsCCC	ENSP00000514856.2:p.Thr2607Pro
ENST00000700202.1:c.286_288delinsCCC	ENSP00000514856.1:p.Thr96Pro
ENST00000380152.8:c.7819_7821delinsCCC MANE Select	ENSP00000369497.3:p.Thr2607Pro
ENST00000544455.6:c.7819_7821delinsCCC	ENSP00000439902.1:p.Thr2607Pro
ENST00000614259.2:c.7827_7829delinsCCC	ENSP00000506251.1:p.Leu2610Pro
ENST00000665585.1:c.384_386delinsCCC
ENST00000680887.1:c.7819_7821delinsCCC	ENSP00000505508.1:p.Thr2607Pro
ENST00000380152.7:c.7819_7821delinsCCC	ENSP00000369497.3:p.Thr2607Pro
ENST00000544455.5:c.7819_7821delinsCCC	ENSP00000439902.1:p.Thr2607Pro
ENST00000614259.1:n.7827_7829delinsCCC
NM_000059.3:c.7819_7821delinsCCC , LRG_293t1:c.7819_7821delinsCCC	NP_000050.2:p.Thr2607Pro
XM_011535203.1:c.7819_7821delinsCCC	XP_011533505.1:p.Thr2607Pro
XM_011535204.1:c.7723_7725delinsCCC	XP_011533506.1:p.Thr2575Pro
XM_011535205.1:c.7819_7821delinsCCC	XP_011533507.1:p.Thr2607Pro
NM_000059.4:c.7819_7821delinsCCC MANE Select	NP_000050.3:p.Thr2607Pro