Canonical Allele Identifier: CA2697551762
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2700750
ClinVar RCV Id: RCV003530466

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371095del , CM000675.2:g.32371095del GRCh38
NC_000013.10:g.32945232del , CM000675.1:g.32945232del GRCh37
NC_000013.9:g.31843232del NCBI36
NG_012772.3:g.60616del , LRG_293:g.60616del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8627del ENSP00000434898.2:p.His2876LeufsTer15
ENST00000528762.2:c.8627del ENSP00000433168.2:p.His2876LeufsTer10
ENST00000530893.7:c.8258del ENSP00000499438.2:p.His2753LeufsTer15
ENST00000665585.2:c.8627del ENSP00000499570.2:p.His2876LeufsTer16
ENST00000666593.2:c.8627del ENSP00000499256.2:p.His2876LeufsTer15
ENST00000700202.2:c.8627del ENSP00000514856.2:p.His2876LeufsTer15
ENST00000700202.1:c.1094del ENSP00000514856.1:p.His365LeufsTer15
ENST00000380152.8:c.8627del MANE Select ENSP00000369497.3:p.His2876LeufsTer15
ENST00000544455.6:c.8627del ENSP00000439902.1:p.His2876LeufsTer15
ENST00000614259.2:c.8635del ENSP00000506251.1:n.8635del
ENST00000665585.1:c.1192del
ENST00000680887.1:c.8627del ENSP00000505508.1:p.His2876LeufsTer15
ENST00000380152.7:c.8627del ENSP00000369497.3:p.His2876LeufsTer15
ENST00000528762.1:c.125del ENSP00000433168.1:p.His42LeufsTer10
ENST00000544455.5:c.8627del ENSP00000439902.1:p.His2876LeufsTer15
NM_000059.3:c.8627del , LRG_293t1:c.8627del NP_000050.2:p.His2876LeufsTer15
XM_011535203.1:c.8627del XP_011533505.1:p.His2876LeufsTer15
XM_011535204.1:c.8531del XP_011533506.1:p.His2844LeufsTer15
XM_011535205.1:c.8627del XP_011533507.1:p.His2876LeufsTer15
NM_000059.4:c.8627del MANE Select NP_000050.3:p.His2876LeufsTer15