Canonical Allele Identifier: CA10575958
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224446
ClinVar RCV Id: RCV000240780

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376670_32379317del , CM000675.2:g.32376670_32379317del GRCh38
NC_000013.10:g.32950807_32953454del , CM000675.1:g.32950807_32953454del GRCh37
NC_000013.9:g.31848807_31851454del NCBI36
NG_012772.3:g.66191_68838del , LRG_293:g.66191_68838del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8633_8755del
ENST00000528762.2:c.8697_*122del
ENST00000530893.7:c.8264_8386del
ENST00000665585.2:c.*195_*317del
ENST00000666593.2:c.8633_8755del
ENST00000700202.2:c.8633_8755del
ENST00000700202.1:c.1100_1222del
ENST00000700203.1:n.760_882del
ENST00000380152.8:c.8633_8755del
ENST00000544455.6:c.8633_8755del
ENST00000614259.2:c.8641_8763del
ENST00000665585.1:c.1511_1633del
ENST00000680887.1:c.8633_8755del
ENST00000380152.7:c.8633_8755del
ENST00000528762.1:c.195_317del
ENST00000544455.5:c.8633_8755del
NM_000059.3:c.8633_8755del , LRG_293t1:c.8633_8755del
XM_011535203.1:c.8633_8755del
XM_011535204.1:c.8537_8659del
XM_011535205.1:c.8633_8755-433del
NM_000059.4:c.8633_8755del