Canonical Allele Identifier: CA2580087446
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713213
ClinVar RCV Id: RCV003156008

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32378158_32383530del , CM000675.2:g.32378158_32383530del GRCh38
NC_000013.10:g.32952295_32957667del , CM000675.1:g.32952295_32957667del GRCh37
NC_000013.9:g.31850295_31855667del NCBI36
NG_012772.3:g.67679_73051del , LRG_293:g.67679_73051del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8755-1159_9256+3385del
ENST00000528762.2:c.*122-1159_*623+3385del
ENST00000530893.7:c.8386-1159_8887+3385del
ENST00000665585.2:c.*317-1159_*818+3385del
ENST00000666593.2:c.8755-1159_9257-363del
ENST00000700202.2:c.8755-1159_9205+3385del
ENST00000700202.1:c.1222-1159_1672+3385del
ENST00000700203.1:n.882-1159_1383+3385del
ENST00000380152.8:c.8755-1159_9256+3385del
ENST00000544455.6:c.8755-1159_9256+3385del
ENST00000614259.2:c.8763-1159_9264+3385del
ENST00000665585.1:c.1633-1159_2134+3385del
ENST00000680887.1:c.8755-1159_9256+3385del
ENST00000380152.7:c.8755-1159_9256+3385del
ENST00000544455.5:c.8755-1159_9256+3385del
NM_000059.3:c.8755-1159_9256+3385del , LRG_293t1:c.8755-1159_9256+3385del
XM_011535203.1:c.8755-1159_9256+3385del
XM_011535204.1:c.8659-1159_9160+3385del
NM_000059.4:c.8755-1159_9256+3385del