Canonical Allele Identifier: CA2580087492
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1998278
ClinVar RCV Id: RCV002792129

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357226_32357777del , CM000675.2:g.32357226_32357777del GRCh38
NC_000013.10:g.32931363_32931914del , CM000675.1:g.32931363_32931914del GRCh37
NC_000013.9:g.31829363_31829914del NCBI36
NG_012772.3:g.46747_47298del , LRG_293:g.46747_47298del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7618-516_7653del
ENST00000528762.2:c.7618-516_7653del
ENST00000530893.7:c.7249-516_7284del
ENST00000665585.2:c.7618-516_7653del
ENST00000666593.2:c.7618-516_7653del
ENST00000700202.2:c.7618-516_7653del
ENST00000700202.1:c.85-516_120del
ENST00000380152.8:c.7618-516_7653del
ENST00000544455.6:c.7618-516_7653del
ENST00000614259.2:c.7618-516_7653del
ENST00000665585.1:c.183-516_218del
ENST00000680887.1:c.7618-516_7653del
ENST00000380152.7:c.7618-516_7653del
ENST00000544455.5:c.7618-516_7653del
ENST00000614259.1:n.7618-516_7653del
NM_000059.3:c.7618-516_7653del , LRG_293t1:c.7618-516_7653del
XM_011535203.1:c.7618-516_7653del
XM_011535204.1:c.7522-516_7557del
XM_011535205.1:c.7618-516_7653del
NM_000059.4:c.7618-516_7653del