Canonical Allele Identifier: CA2580614662
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2566021
ClinVar RCV Id: RCV003302172

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357847_32357906dup , CM000675.2:g.32357847_32357906dup GRCh38
NC_000013.10:g.32931984_32932043dup , CM000675.1:g.32931984_32932043dup GRCh37
NC_000013.9:g.31829984_31830043dup NCBI36
NG_012772.3:g.47368_47427dup , LRG_293:g.47368_47427dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7723_7782dup ENSP00000434898.2:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000528762.2:c.7723_7782dup ENSP00000433168.2:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000530893.7:c.7354_7413dup ENSP00000499438.2:p.Lys2471_Ala2472insThrGlyLysGlyIleGlnLeuAl...
ENST00000665585.2:c.7723_7782dup ENSP00000499570.2:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000666593.2:c.7723_7782dup ENSP00000499256.2:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000700202.2:c.7723_7782dup ENSP00000514856.2:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000700202.1:c.190_249dup ENSP00000514856.1:p.Lys83_Ala84insThrGlyLysGlyIleGlnLeuAlaAsp...
ENST00000380152.8:c.7723_7782dup MANE Select ENSP00000369497.3:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000544455.6:c.7723_7782dup ENSP00000439902.1:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000614259.2:c.7723_7782dup ENSP00000506251.1:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000665585.1:c.288_347dup
ENST00000680887.1:c.7723_7782dup ENSP00000505508.1:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000380152.7:c.7723_7782dup ENSP00000369497.3:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000544455.5:c.7723_7782dup ENSP00000439902.1:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAl...
ENST00000614259.1:n.7723_7782dup
NM_000059.3:c.7723_7782dup , LRG_293t1:c.7723_7782dup NP_000050.2:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAspGl...
XM_011535203.1:c.7723_7782dup XP_011533505.1:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAs...
XM_011535204.1:c.7627_7686dup XP_011533506.1:p.Lys2562_Ala2563insThrGlyLysGlyIleGlnLeuAlaAs...
XM_011535205.1:c.7723_7782dup XP_011533507.1:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAs...
NM_000059.4:c.7723_7782dup MANE Select NP_000050.3:p.Lys2594_Ala2595insThrGlyLysGlyIleGlnLeuAlaAspGl...