Canonical Allele Identifier: CA10589467

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267054
• ClinVar RCV Id: RCV000257428
• dbSNP Id: rs886040745
• MyVariant Identifiers: chr13:g.32937406_32937407insTT (hg19) ; chr13:g.32363269_32363270insTT (hg38)
• PubMed: PMID:12955716

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363269_32363270insTT , CM000675.2:g.32363269_32363270insTT	GRCh38
NC_000013.10:g.32937406_32937407insTT , CM000675.1:g.32937406_32937407insTT	GRCh37
NC_000013.9:g.31835406_31835407insTT	NCBI36
NG_012772.3:g.52790_52791insTT , LRG_293:g.52790_52791insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8067_8068insTT	ENSP00000434898.2:p.Val2690LeufsTer5
ENST00000528762.2:c.8067_8068insTT	ENSP00000433168.2:p.Val2690LeufsTer5
ENST00000530893.7:c.7698_7699insTT	ENSP00000499438.2:p.Val2567LeufsTer5
ENST00000665585.2:c.8067_8068insTT	ENSP00000499570.2:p.Val2690LeufsTer5
ENST00000666593.2:c.8067_8068insTT	ENSP00000499256.2:p.Val2690LeufsTer5
ENST00000700202.2:c.8067_8068insTT	ENSP00000514856.2:p.Val2690LeufsTer5
ENST00000700202.1:c.534_535insTT	ENSP00000514856.1:p.Val179LeufsTer5
ENST00000380152.8:c.8067_8068insTT MANE Select	ENSP00000369497.3:p.Val2690LeufsTer5
ENST00000544455.6:c.8067_8068insTT	ENSP00000439902.1:p.Val2690LeufsTer5
ENST00000614259.2:c.8075_8076insTT	ENSP00000506251.1:n.8075_8076insTT
ENST00000665585.1:c.632_633insTT
ENST00000680887.1:c.8067_8068insTT	ENSP00000505508.1:p.Val2690LeufsTer5
ENST00000380152.7:c.8067_8068insTT	ENSP00000369497.3:p.Val2690LeufsTer5
ENST00000544455.5:c.8067_8068insTT	ENSP00000439902.1:p.Val2690LeufsTer5
NM_000059.3:c.8067_8068insTT , LRG_293t1:c.8067_8068insTT	NP_000050.2:p.Val2690LeufsTer5
XM_011535203.1:c.8067_8068insTT	XP_011533505.1:p.Val2690LeufsTer5
XM_011535204.1:c.7971_7972insTT	XP_011533506.1:p.Val2658LeufsTer5
XM_011535205.1:c.8067_8068insTT	XP_011533507.1:p.Val2690LeufsTer5
NM_000059.4:c.8067_8068insTT MANE Select	NP_000050.3:p.Val2690LeufsTer5