Canonical Allele Identifier: CA2573149523

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1325647
• ClinVar RCV Id: RCV002222223
• dbSNP Id: rs2137664232

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398346_32398355del , CM000675.2:g.32398346_32398355del	GRCh38
NC_000013.10:g.32972483_32972492del , CM000675.1:g.32972483_32972492del	GRCh37
NC_000013.9:g.31870483_31870492del	NCBI36
NG_012772.3:g.87867_87876del , LRG_293:g.87867_87876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*356_*365del	ENSP00000434898.2:n.*356_*365del
ENST00000528762.2:c.*1200_*1209del	ENSP00000433168.2:n.*1200_*1209del
ENST00000530893.7:c.9464_9473del	ENSP00000499438.2:p.Pro3155HisfsTer?
ENST00000665585.2:c.*1395_*1404del	ENSP00000499570.2:n.*1395_*1404del
ENST00000700202.2:c.9782_9791del	ENSP00000514856.2:p.Pro3261HisfsTer?
ENST00000700202.1:c.2249_2258del	ENSP00000514856.1:p.Pro750HisfsTer?
ENST00000700203.1:n.1960_1969del
ENST00000380152.8:c.9833_9842del MANE Select	ENSP00000369497.3:p.Pro3278HisfsTer?
ENST00000544455.6:c.9833_9842del	ENSP00000439902.1:p.Pro3278HisfsTer?
ENST00000614259.2:c.9841_9850del	ENSP00000506251.1:n.9841_9850del
ENST00000680887.1:c.9833_9842del	ENSP00000505508.1:p.Pro3278HisfsTer?
ENST00000380152.7:c.9833_9842del	ENSP00000369497.3:p.Pro3278HisfsTer?
ENST00000533776.1:n.421_430del
ENST00000544455.5:c.9833_9842del	ENSP00000439902.1:p.Pro3278HisfsTer?
NM_000059.3:c.9833_9842del , LRG_293t1:c.9833_9842del	NP_000050.2:p.Pro3278HisfsTer?
XM_011535203.1:c.9833_9842del	XP_011533505.1:p.Pro3278HisfsTer?
XM_011535204.1:c.9737_9746del	XP_011533506.1:p.Pro3246HisfsTer?
NM_000059.4:c.9833_9842del MANE Select	NP_000050.3:p.Pro3278HisfsTer?