Canonical Allele Identifier: CA2499222059

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1050166
• ClinVar RCV Id: RCV001357157
• dbSNP Id: rs2137461072

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330917_32331031del , CM000675.2:g.32330917_32331031del	GRCh38
NC_000013.10:g.32905054_32905168del , CM000675.1:g.32905054_32905168del	GRCh37
NC_000013.9:g.31803054_31803168del	NCBI36
NG_012772.3:g.20438_20552del , LRG_293:g.20438_20552del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.682-2_793+1del
ENST00000528762.2:c.682-2_793+1del
ENST00000530893.7:c.313-2_424+1del
ENST00000665585.2:c.682-2_793+1del
ENST00000666593.2:c.682-2_793+1del
ENST00000700202.2:c.682-2_793+1del
ENST00000700201.1:c.*461-2_*572+1del
ENST00000380152.8:c.682-2_793+1del
ENST00000544455.6:c.682-2_793+1del
ENST00000614259.2:c.682-2_793+1del
ENST00000680887.1:c.682-2_793+1del
ENST00000380152.7:c.682-2_793+1del
ENST00000530893.6:n.880-2_991+1del
ENST00000544455.5:c.682-2_793+1del
ENST00000614259.1:n.682-2_793+1del
NM_000059.3:c.682-2_793+1del , LRG_293t1:c.682-2_793+1del
XM_011535203.1:c.682-2_793+1del
XM_011535204.1:c.682-2_793+1del
XM_011535205.1:c.682-2_793+1del
NM_000059.4:c.682-2_793+1del