Canonical Allele Identifier: CA10589558

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267152
• ClinVar RCV Id: RCV000257284 ; RCV000809752
• dbSNP Id: rs886040831
• MyVariant Identifiers: chr13:g.32968900_32968904delinsCCT (hg19) ; chr13:g.32394763_32394767delinsCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394763_32394767delinsCCT , CM000675.2:g.32394763_32394767delinsCCT	GRCh38
NC_000013.10:g.32968900_32968904delinsCCT , CM000675.1:g.32968900_32968904delinsCCT	GRCh37
NC_000013.9:g.31866900_31866904delinsCCT	NCBI36
NG_012772.3:g.84284_84288delinsCCT , LRG_293:g.84284_84288delinsCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9331_9335delinsCCT	ENSP00000434898.2:p.Glu3111ProfsTer4
ENST00000528762.2:c.*698_*702delinsCCT	ENSP00000433168.2:n.*698_*702delinsCCT
ENST00000530893.7:c.8962_8966delinsCCT	ENSP00000499438.2:p.Glu2988ProfsTer4
ENST00000665585.2:c.*893_*897delinsCCT	ENSP00000499570.2:n.*893_*897delinsCCT
ENST00000666593.2:c.*176_*180delinsCCT	ENSP00000499256.2:n.*176_*180delinsCCT
ENST00000700202.2:c.9280_9284delinsCCT	ENSP00000514856.2:p.Glu3094ProfsTer4
ENST00000700202.1:c.1747_1751delinsCCT	ENSP00000514856.1:p.Glu583ProfsTer4
ENST00000700203.1:n.1458_1462delinsCCT
ENST00000380152.8:c.9331_9335delinsCCT MANE Select	ENSP00000369497.3:p.Glu3111ProfsTer4
ENST00000544455.6:c.9331_9335delinsCCT	ENSP00000439902.1:p.Glu3111ProfsTer4
ENST00000614259.2:c.9339_9343delinsCCT	ENSP00000506251.1:n.9339_9343delinsCCT
ENST00000665585.1:c.2209_2213delinsCCT
ENST00000666593.1:c.353_357delinsCCT	ENSP00000499256.1:n.353_357delinsCCT
ENST00000680887.1:c.9331_9335delinsCCT	ENSP00000505508.1:p.Glu3111ProfsTer4
ENST00000380152.7:c.9331_9335delinsCCT	ENSP00000369497.3:p.Glu3111ProfsTer4
ENST00000470094.1:c.288_292delinsCCT
ENST00000544455.5:c.9331_9335delinsCCT	ENSP00000439902.1:p.Glu3111ProfsTer4
NM_000059.3:c.9331_9335delinsCCT , LRG_293t1:c.9331_9335delinsCCT	NP_000050.2:p.Glu3111ProfsTer4
XM_011535203.1:c.9331_9335delinsCCT	XP_011533505.1:p.Glu3111ProfsTer4
XM_011535204.1:c.9235_9239delinsCCT	XP_011533506.1:p.Glu3079ProfsTer4
NM_000059.4:c.9331_9335delinsCCT MANE Select	NP_000050.3:p.Glu3111ProfsTer4