Canonical Allele Identifier: CA2825002174

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3230219
• ClinVar RCV Id: RCV004520370

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398279_32398282del , CM000675.2:g.32398279_32398282del	GRCh38
NC_000013.10:g.32972416_32972419del , CM000675.1:g.32972416_32972419del	GRCh37
NC_000013.9:g.31870416_31870419del	NCBI36
NG_012772.3:g.87800_87803del , LRG_293:g.87800_87803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*289_*292del	ENSP00000434898.2:n.*289_*292del
ENST00000528762.2:c.*1133_*1136del	ENSP00000433168.2:n.*1133_*1136del
ENST00000530893.7:c.9397_9400del	ENSP00000499438.2:p.Glu3133LysfsTer18
ENST00000665585.2:c.*1328_*1331del	ENSP00000499570.2:n.*1328_*1331del
ENST00000700202.2:c.9715_9718del	ENSP00000514856.2:p.Glu3239LysfsTer18
ENST00000700202.1:c.2182_2185del	ENSP00000514856.1:p.Glu728LysfsTer18
ENST00000700203.1:n.1893_1896del
ENST00000380152.8:c.9766_9769del MANE Select	ENSP00000369497.3:p.Glu3256LysfsTer18
ENST00000544455.6:c.9766_9769del	ENSP00000439902.1:p.Glu3256LysfsTer18
ENST00000614259.2:c.9774_9777del	ENSP00000506251.1:n.9774_9777del
ENST00000680887.1:c.9766_9769del	ENSP00000505508.1:p.Glu3256LysfsTer18
ENST00000380152.7:c.9766_9769del	ENSP00000369497.3:p.Glu3256LysfsTer18
ENST00000533776.1:n.354_357del
ENST00000544455.5:c.9766_9769del	ENSP00000439902.1:p.Glu3256LysfsTer18
NM_000059.3:c.9766_9769del , LRG_293t1:c.9766_9769del	NP_000050.2:p.Glu3256LysfsTer18
XM_011535203.1:c.9766_9769del	XP_011533505.1:p.Glu3256LysfsTer18
XM_011535204.1:c.9670_9673del	XP_011533506.1:p.Glu3224LysfsTer18
NM_000059.4:c.9766_9769del MANE Select	NP_000050.3:p.Glu3256LysfsTer18