Canonical Allele Identifier: CA2697551711
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2692390
ClinVar RCV Id: RCV003494582

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316584_32319448delinsCAC , CM000675.2:g.32316584_32319448delinsCAC GRCh38
NC_000013.10:g.32890721_32893585delinsCAC , CM000675.1:g.32890721_32893585delinsCAC GRCh37
NC_000013.9:g.31788721_31791585delinsCAC NCBI36
NG_012772.3:g.6105_8969delinsCAC , LRG_293:g.6105_8969delinsCAC
NG_017006.2:g.916_3780delinsGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.67+57_316+123delinsCAC
ENST00000528762.2:c.67+57_316+123delinsCAC
ENST00000530893.7:c.-303+61_-54+123delinsCAC
ENST00000665585.2:c.67+57_316+123delinsCAC
ENST00000666593.2:c.67+57_316+123delinsCAC
ENST00000700202.2:c.67+57_316+123delinsCAC
ENST00000700200.1:n.191+57_191+2921delinsCAC
ENST00000700201.1:c.67+57_316+123delinsCAC
ENST00000380152.8:c.67+57_316+123delinsCAC
ENST00000544455.6:c.67+57_316+123delinsCAC
ENST00000614259.2:c.67+57_316+123delinsCAC
ENST00000680887.1:c.67+57_316+123delinsCAC
ENST00000380152.7:c.67+57_316+123delinsCAC
ENST00000530893.6:n.265+61_514+123delinsCAC
ENST00000544455.5:c.67+57_316+123delinsCAC
ENST00000614259.1:n.67+57_316+123delinsCAC
NM_000059.3:c.67+57_316+123delinsCAC , LRG_293t1:c.67+57_316+123delinsCAC
XM_011535203.1:c.67+57_316+123delinsCAC
XM_011535204.1:c.67+57_316+123delinsCAC
XM_011535205.1:c.67+57_316+123delinsCAC
NM_000059.4:c.67+57_316+123delinsCAC