Canonical Allele Identifier: CA2499222270
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050037
ClinVar RCV Id: RCV001356859
dbSNP Id: rs2137555065

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32354860_32355660del , CM000675.2:g.32354860_32355660del GRCh38
NC_000013.10:g.32928997_32929797del , CM000675.1:g.32928997_32929797del GRCh37
NC_000013.9:g.31826997_31827797del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7008-1_7435+372del
ENST00000528762.2:c.7008-1_7435+372del
ENST00000530893.7:c.6639-1_7066+372del
ENST00000665585.2:c.7008-1_7435+372del
ENST00000666593.2:c.7008-1_7435+372del
ENST00000700202.2:c.7008-1_7435+372del
ENST00000380152.8:c.7008-1_7435+372del
ENST00000544455.6:c.7008-1_7435+372del
ENST00000614259.2:c.7008-1_7435+372del
ENST00000680887.1:c.7008-1_7435+372del
ENST00000380152.7:c.7008-1_7435+372del
ENST00000544455.5:c.7008-1_7435+372del
ENST00000614259.1:n.7008-1_7435+372del
XM_011535203.1:c.7008-1_7435+372del
XM_011535204.1:c.6912-1_7339+372del
XM_011535205.1:c.7008-1_7435+372del
NM_000059.4:c.7008-1_7435+372del