Canonical Allele Identifier: CA16619636
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422823
ClinVar RCV Id: RCV000478452 RCV000661431 RCV001193358 RCV002413334
dbSNP Id: rs483353112
MyVariant Identifiers: chr13:g.32893271_32893278dupATAATTCT (hg19) chr13:g.32893278_32893279insATAATTCT (hg19) chr13:g.32319134_32319141dupATAATTCT (hg38) chr13:g.32319141_32319142insATAATTCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319134_32319141dup , CM000675.2:g.32319134_32319141dup GRCh38
NC_000013.10:g.32893271_32893278dup , CM000675.1:g.32893271_32893278dup GRCh37
NC_000013.9:g.31791271_31791278dup NCBI36
NG_012772.3:g.8655_8662dup , LRG_293:g.8655_8662dup
NG_017006.2:g.1225_1232dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.125_132dup ENSP00000434898.2:p.Glu45IlefsTer?
ENST00000528762.2:c.125_132dup ENSP00000433168.2:p.Glu45IlefsTer?
ENST00000530893.7:c.-245_-238dup ENSP00000499438.2:n.-245_-238dup
ENST00000665585.2:c.125_132dup ENSP00000499570.2:p.Glu45IlefsTer?
ENST00000666593.2:c.125_132dup ENSP00000499256.2:p.Glu45IlefsTer?
ENST00000700202.2:c.125_132dup ENSP00000514856.2:p.Glu45IlefsTer?
ENST00000700200.1:n.191+2607_191+2614dup
ENST00000700201.1:c.125_132dup ENSP00000514855.1:p.Glu45IlefsTer?
ENST00000380152.8:c.125_132dup MANE Select ENSP00000369497.3:p.Glu45IlefsTer?
ENST00000544455.6:c.125_132dup ENSP00000439902.1:p.Glu45IlefsTer?
ENST00000614259.2:c.125_132dup ENSP00000506251.1:p.Glu45IlefsTer?
ENST00000680887.1:c.125_132dup ENSP00000505508.1:p.Glu45IlefsTer?
ENST00000380152.7:c.125_132dup ENSP00000369497.3:p.Glu45IlefsTer?
ENST00000530893.6:n.323_330dup
ENST00000544455.5:c.125_132dup ENSP00000439902.1:p.Glu45IlefsTer?
ENST00000614259.1:n.125_132dup
NM_000059.3:c.125_132dup , LRG_293t1:c.125_132dup NP_000050.2:p.Glu45IlefsTer?
XM_011535203.1:c.125_132dup XP_011533505.1:p.Glu45IlefsTer?
XM_011535204.1:c.125_132dup XP_011533506.1:p.Glu45IlefsTer?
XM_011535205.1:c.125_132dup XP_011533507.1:p.Glu45IlefsTer?
NM_000059.4:c.125_132dup MANE Select NP_000050.3:p.Glu45IlefsTer?
Search 100 bp 5'
Search 100 bp 3'