Canonical Allele Identifier: CA10602552
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 267707
ClinVar RCV Id: RCV000258301

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32378942_32380826del , CM000675.2:g.32378942_32380826del GRCh38
NC_000013.10:g.32953079_32954963del , CM000675.1:g.32953079_32954963del GRCh37
NC_000013.9:g.31851079_31852963del NCBI36
NG_012772.3:g.68463_70347del , LRG_293:g.68463_70347del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8755-375_9256+681del
ENST00000528762.2:c.*122-375_*623+681del
ENST00000530893.7:c.8386-375_8887+681del
ENST00000665585.2:c.*317-375_*818+681del
ENST00000666593.2:c.8755-375_9256+681del
ENST00000700202.2:c.8755-375_9205+681del
ENST00000700202.1:c.1222-375_1672+681del
ENST00000700203.1:n.882-375_1383+681del
ENST00000380152.8:c.8755-375_9256+681del
ENST00000544455.6:c.8755-375_9256+681del
ENST00000614259.2:c.8763-375_9264+681del
ENST00000665585.1:c.1633-375_2134+681del
ENST00000680887.1:c.8755-375_9256+681del
ENST00000380152.7:c.8755-375_9256+681del
ENST00000544455.5:c.8755-375_9256+681del
NM_000059.3:c.8755-375_9256+681del , LRG_293t1:c.8755-375_9256+681del
XM_011535203.1:c.8755-375_9256+681del
XM_011535204.1:c.8659-375_9160+681del
NM_000059.4:c.8755-375_9256+681del