Canonical Allele Identifier: CA025817

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52674
• ClinVar RCV Id: RCV000113997 ; RCV003529946
• dbSNP Id: rs80359728
• gnomAD v4: 13-32379315-AG-A
• MyVariant Identifiers: chr13:g.32953455del (hg19) ; chr13:g.32379318del (hg38)
• PubMed: PMID:12552570

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379318del , CM000675.2:g.32379318del	GRCh38
NC_000013.10:g.32953455del , CM000675.1:g.32953455del	GRCh37
NC_000013.9:g.31851455del	NCBI36
NG_012772.3:g.68839del , LRG_293:g.68839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8756del
ENST00000528762.2:c.*123del
ENST00000530893.7:c.8387del
ENST00000665585.2:c.*318del
ENST00000666593.2:c.8756del
ENST00000700202.2:c.8756del
ENST00000700202.1:c.1223del
ENST00000700203.1:n.883del
ENST00000380152.8:c.8756del
ENST00000544455.6:c.8756del
ENST00000614259.2:c.8764del
ENST00000665585.1:c.1634del
ENST00000680887.1:c.8756del
ENST00000380152.7:c.8756del
ENST00000528762.1:c.318del
ENST00000544455.5:c.8756del
NM_000059.3:c.8756del , LRG_293t1:c.8756del
XM_011535203.1:c.8756del
XM_011535204.1:c.8660del
XM_011535205.1:c.8755-432del	XP_011533507.1:n.8755-432del
NM_000059.4:c.8756del