Canonical Allele Identifier: CA2499222015

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1048907
• ClinVar RCV Id: RCV001354324
• dbSNP Id: rs2138703519

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319075_32319326del , CM000675.2:g.32319075_32319326del	GRCh38
NC_000013.10:g.32893212_32893463del , CM000675.1:g.32893212_32893463del	GRCh37
NC_000013.9:g.31791212_31791463del	NCBI36
NG_012772.3:g.8596_8847del , LRG_293:g.8596_8847del
NG_017006.2:g.1038_1289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.68-2_316+1del
ENST00000528762.2:c.68-2_316+1del
ENST00000530893.7:c.-302-2_-54+1del
ENST00000665585.2:c.68-2_316+1del
ENST00000666593.2:c.68-2_316+1del
ENST00000700202.2:c.68-2_316+1del
ENST00000700200.1:n.191+2548_191+2799del
ENST00000700201.1:c.68-2_316+1del
ENST00000380152.8:c.68-2_316+1del
ENST00000544455.6:c.68-2_316+1del
ENST00000614259.2:c.68-2_316+1del
ENST00000680887.1:c.68-2_316+1del
ENST00000380152.7:c.68-2_316+1del
ENST00000530893.6:n.266-2_514+1del
ENST00000544455.5:c.68-2_316+1del
ENST00000614259.1:n.68-2_316+1del
NM_000059.3:c.68-2_316+1del , LRG_293t1:c.68-2_316+1del
XM_011535203.1:c.68-2_316+1del
XM_011535204.1:c.68-2_316+1del
XM_011535205.1:c.68-2_316+1del
NM_000059.4:c.68-2_316+1del