Canonical Allele Identifier: CA2580087377
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713211
ClinVar RCV Id: RCV003156006

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32359467_32364093del , CM000675.2:g.32359467_32364093del GRCh38
NC_000013.10:g.32933604_32938230del , CM000675.1:g.32933604_32938230del GRCh37
NC_000013.9:g.31831604_31836230del NCBI36
NG_012772.3:g.48988_53614del , LRG_293:g.48988_53614del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7805+1538_8331+560del
ENST00000528762.2:c.7805+1538_8331+560del
ENST00000530893.7:c.7436+1538_7962+560del
ENST00000665585.2:c.7805+1538_8331+560del
ENST00000666593.2:c.7805+1538_8331+560del
ENST00000700202.2:c.7805+1538_8331+560del
ENST00000700202.1:c.272+1538_798+560del
ENST00000380152.8:c.7805+1538_8331+560del
ENST00000544455.6:c.7805+1538_8331+560del
ENST00000614259.2:c.7805+1538_8339+560del
ENST00000665585.1:c.370+1538_896+560del
ENST00000680887.1:c.7805+1538_8331+560del
ENST00000380152.7:c.7805+1538_8331+560del
ENST00000544455.5:c.7805+1538_8331+560del
NM_000059.3:c.7805+1538_8331+560del , LRG_293t1:c.7805+1538_8331+560del
XM_011535203.1:c.7805+1538_8331+560del
XM_011535204.1:c.7709+1538_8235+560del
XM_011535205.1:c.7805+1538_8331+560del
NM_000059.4:c.7805+1538_8331+560del