Canonical Allele Identifier: CA2580087121
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1879250
ClinVar RCV Id: RCV002511749

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332260_32332276del , CM000675.2:g.32332260_32332276del GRCh38
NC_000013.10:g.32906397_32906413del , CM000675.1:g.32906397_32906413del GRCh37
NC_000013.9:g.31804397_31804413del NCBI36
NG_012772.3:g.21781_21797del , LRG_293:g.21781_21797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.794-12_798del
ENST00000528762.2:c.794-12_798del
ENST00000530893.7:c.425-12_429del
ENST00000665585.2:c.794-12_798del
ENST00000666593.2:c.794-12_798del
ENST00000700202.2:c.794-12_798del
ENST00000700201.1:c.*573-12_*577del
ENST00000380152.8:c.794-12_798del
ENST00000544455.6:c.794-12_798del
ENST00000614259.2:c.794-12_798del
ENST00000680887.1:c.794-12_798del
ENST00000380152.7:c.794-12_798del
ENST00000530893.6:n.992-12_996del
ENST00000544455.5:c.794-12_798del
ENST00000614259.1:n.794-12_798del
NM_000059.3:c.794-12_798del , LRG_293t1:c.794-12_798del
XM_011535203.1:c.794-12_798del
XM_011535204.1:c.794-12_798del
XM_011535205.1:c.794-12_798del
NM_000059.4:c.794-12_798del