Canonical Allele Identifier: CA2580614703

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2011249
• ClinVar RCV Id: RCV002851230

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398287_32398288del , CM000675.2:g.32398287_32398288del	GRCh38
NC_000013.10:g.32972424_32972425del , CM000675.1:g.32972424_32972425del	GRCh37
NC_000013.9:g.31870424_31870425del	NCBI36
NG_012772.3:g.87808_87809del , LRG_293:g.87808_87809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*297_*298del	ENSP00000434898.2:n.*297_*298del
ENST00000528762.2:c.*1141_*1142del	ENSP00000433168.2:n.*1141_*1142del
ENST00000530893.7:c.9405_9406del	ENSP00000499438.2:p.Glu3135AspfsTer2
ENST00000665585.2:c.*1336_*1337del	ENSP00000499570.2:n.*1336_*1337del
ENST00000700202.2:c.9723_9724del	ENSP00000514856.2:p.Glu3241AspfsTer2
ENST00000700202.1:c.2190_2191del	ENSP00000514856.1:p.Glu730AspfsTer2
ENST00000700203.1:n.1901_1902del
ENST00000380152.8:c.9774_9775del MANE Select	ENSP00000369497.3:p.Glu3258AspfsTer2
ENST00000544455.6:c.9774_9775del	ENSP00000439902.1:p.Glu3258AspfsTer2
ENST00000614259.2:c.9782_9783del	ENSP00000506251.1:n.9782_9783del
ENST00000680887.1:c.9774_9775del	ENSP00000505508.1:p.Glu3258AspfsTer2
ENST00000380152.7:c.9774_9775del	ENSP00000369497.3:p.Glu3258AspfsTer2
ENST00000533776.1:n.362_363del
ENST00000544455.5:c.9774_9775del	ENSP00000439902.1:p.Glu3258AspfsTer2
NM_000059.3:c.9774_9775del , LRG_293t1:c.9774_9775del	NP_000050.2:p.Glu3258AspfsTer2
XM_011535203.1:c.9774_9775del	XP_011533505.1:p.Glu3258AspfsTer2
XM_011535204.1:c.9678_9679del	XP_011533506.1:p.Glu3226AspfsTer2
NM_000059.4:c.9774_9775del MANE Select	NP_000050.3:p.Glu3258AspfsTer2