Canonical Allele Identifier: CA1139663113

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 971600
• ClinVar RCV Id: RCV001247416 ; RCV003158624
• dbSNP Id: rs2072418581

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333128_32333130delinsCTC , CM000675.2:g.32333128_32333130delinsCTC	GRCh38
NC_000013.10:g.32907265_32907267delinsCTC , CM000675.1:g.32907265_32907267delinsCTC	GRCh37
NC_000013.9:g.31805265_31805267delinsCTC	NCBI36
NG_012772.3:g.22649_22651delinsCTC , LRG_293:g.22649_22651delinsCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1650_1652delinsCTC	ENSP00000434898.2:p.Glu550_Asp551delinsAspSer
ENST00000528762.2:c.1650_1652delinsCTC	ENSP00000433168.2:p.Glu550_Asp551delinsAspSer
ENST00000530893.7:c.1281_1283delinsCTC	ENSP00000499438.2:p.Glu427_Asp428delinsAspSer
ENST00000665585.2:c.1650_1652delinsCTC	ENSP00000499570.2:p.Glu550_Asp551delinsAspSer
ENST00000666593.2:c.1650_1652delinsCTC	ENSP00000499256.2:p.Glu550_Asp551delinsAspSer
ENST00000700202.2:c.1650_1652delinsCTC	ENSP00000514856.2:p.Glu550_Asp551delinsAspSer
ENST00000700201.1:c.*1429_*1431delinsCTC	ENSP00000514855.1:n.*1429_*1431delinsCTC
ENST00000380152.8:c.1650_1652delinsCTC MANE Select	ENSP00000369497.3:p.Glu550_Asp551delinsAspSer
ENST00000544455.6:c.1650_1652delinsCTC	ENSP00000439902.1:p.Glu550_Asp551delinsAspSer
ENST00000614259.2:c.1650_1652delinsCTC	ENSP00000506251.1:p.Glu550_Asp551delinsAspSer
ENST00000680887.1:c.1650_1652delinsCTC	ENSP00000505508.1:p.Glu550_Asp551delinsAspSer
ENST00000380152.7:c.1650_1652delinsCTC	ENSP00000369497.3:p.Glu550_Asp551delinsAspSer
ENST00000530893.6:n.1848_1850delinsCTC
ENST00000544455.5:c.1650_1652delinsCTC	ENSP00000439902.1:p.Glu550_Asp551delinsAspSer
ENST00000614259.1:n.1650_1652delinsCTC
NM_000059.3:c.1650_1652delinsCTC , LRG_293t1:c.1650_1652delinsCTC	NP_000050.2:p.Glu550_Asp551delinsAspSer
XM_011535203.1:c.1650_1652delinsCTC	XP_011533505.1:p.Glu550_Asp551delinsAspSer
XM_011535204.1:c.1650_1652delinsCTC	XP_011533506.1:p.Glu550_Asp551delinsAspSer
XM_011535205.1:c.1650_1652delinsCTC	XP_011533507.1:p.Glu550_Asp551delinsAspSer
NM_000059.4:c.1650_1652delinsCTC MANE Select	NP_000050.3:p.Glu550_Asp551delinsAspSer