Canonical Allele Identifier: CA6940297

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 421014
• ClinVar RCV Id: RCV001262537 ; RCV002376877
• dbSNP Id: rs758732038
• ExAC: 13:32890556 CAG / C
• gnomAD v2: 13-32890556-CAG-C
• gnomAD v4: 13-32316419-CAG-C
• MyVariant Identifiers: chr13:g.32890558_32890559del (hg19) ; chr13:g.32890557_32890558del (hg19) ; chr13:g.32316421_32316422del (hg38) ; chr13:g.32316420_32316421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316421_32316422del , CM000675.2:g.32316421_32316422del	GRCh38
NC_000013.10:g.32890558_32890559del , CM000675.1:g.32890558_32890559del	GRCh37
NC_000013.9:g.31788558_31788559del	NCBI36
NG_012772.3:g.5942_5943del , LRG_293:g.5942_5943del
NG_017006.1:g.534_535del
NG_017006.2:g.3943_3944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.-39-1_-39del
ENST00000528762.2:c.-39-1_-39del
ENST00000530893.7:c.-404-1_-404del
ENST00000665585.2:c.-39-1_-39del
ENST00000666593.2:c.-39-1_-39del
ENST00000700202.2:c.-39-1_-39del
ENST00000700199.1:n.86-1_86del
ENST00000700200.1:n.86-1_86del
ENST00000700201.1:c.-39-1_-39del
ENST00000380152.8:c.-39-1_-39del
ENST00000544455.6:c.-39-1_-39del
ENST00000680887.1:c.-39-1_-39del
ENST00000380152.7:c.-39-1_-39del
ENST00000530893.6:n.164-1_164del
ENST00000544455.5:c.-39-1_-39del
NM_000059.3:c.-39-1_-39del , LRG_293t1:c.-39-1_-39del
XM_011535203.1:c.-39-1_-39del
XM_011535204.1:c.-39-1_-39del
XM_011535205.1:c.-39-1_-39del
NM_000059.4:c.-39-1_-39del