Canonical Allele Identifier: CA500022

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 433845
• ClinVar RCV Id: RCV000502741 ; RCV000758982
• MyVariant Identifiers: chr13:g.32893214_32893462del (hg19) ; chr13:g.32319077_32319325del (hg38)
• PubMed: PMID:9537232 ; PMID:17971607 ; PMID:21939546 ; PMID:23199084 ; PMID:24607278

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319077_32319325del , CM000675.2:g.32319077_32319325del	GRCh38
NC_000013.10:g.32893214_32893462del , CM000675.1:g.32893214_32893462del	GRCh37
NC_000013.9:g.31791214_31791462del	NCBI36
NG_012772.3:g.8598_8846del , LRG_293:g.8598_8846del
NG_017006.2:g.1042_1290del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.68_316del
ENST00000528762.2:c.68_316del
ENST00000530893.7:c.-302_-54del
ENST00000665585.2:c.68_316del
ENST00000666593.2:c.68_316del
ENST00000700202.2:c.68_316del
ENST00000700200.1:n.191+2550_191+2798del
ENST00000700201.1:c.68_316del
ENST00000380152.8:c.68_316del
ENST00000544455.6:c.68_316del
ENST00000614259.2:c.68_316del
ENST00000680887.1:c.68_316del
ENST00000380152.7:c.68_316del
ENST00000530893.6:n.266_514del
ENST00000544455.5:c.68_316del
ENST00000614259.1:n.68_316del
NM_000059.3:c.68_316del , LRG_293t1:c.68_316del
XM_011535203.1:c.68_316del
XM_011535204.1:c.68_316del
XM_011535205.1:c.68_316del
NM_000059.4:c.68_316del