Canonical Allele Identifier: CA6940340

Gene: BRCA2

Linked Data

• dbSNP Id: rs756310203
• ExAC: 13:32893459 TTAGG / T
• gnomAD v2: 13-32893459-TTAGG-T
• MyVariant Identifiers: chr13:g.32893460_32893463del (hg19) ; chr13:g.32319323_32319326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319325_32319328del , CM000675.2:g.32319325_32319328del	GRCh38
NC_000013.10:g.32893462_32893465del , CM000675.1:g.32893462_32893465del	GRCh37
NC_000013.9:g.31791462_31791465del	NCBI36
NG_012772.3:g.8846_8849del , LRG_293:g.8846_8849del
NG_017006.2:g.1038_1041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.316_316+3del
ENST00000528762.2:c.316_316+3del
ENST00000530893.7:c.-54_-54+3del
ENST00000665585.2:c.316_316+3del
ENST00000666593.2:c.316_316+3del
ENST00000700202.2:c.316_316+3del
ENST00000700200.1:n.191+2798_191+2801del
ENST00000700201.1:c.316_316+3del
ENST00000380152.8:c.316_316+3del
ENST00000544455.6:c.316_316+3del
ENST00000614259.2:c.316_316+3del
ENST00000680887.1:c.316_316+3del
ENST00000380152.7:c.316_316+3del
ENST00000530893.6:n.514_514+3del
ENST00000544455.5:c.316_316+3del
ENST00000614259.1:n.316_316+3del
NM_000059.3:c.316_316+3del , LRG_293t1:c.316_316+3del
XM_011535203.1:c.316_316+3del
XM_011535204.1:c.316_316+3del
XM_011535205.1:c.316_316+3del
NM_000059.4:c.316_316+3del