Canonical Allele Identifier: CA024188
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9342
dbSNP Id: rs80359604

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32329469_32329470del , CM000675.2:g.32329469_32329470del GRCh38
NC_000013.10:g.32903606_32903607del , CM000675.1:g.32903606_32903607del GRCh37
NC_000013.9:g.31801606_31801607del NCBI36
NG_012772.3:g.18990_18991del , LRG_293:g.18990_18991del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.658_659del ENSP00000434898.2:p.Val220IlefsTer4
ENST00000528762.2:c.658_659del ENSP00000433168.2:p.Val220IlefsTer4
ENST00000530893.7:c.289_290del ENSP00000499438.2:p.Val97IlefsTer4
ENST00000665585.2:c.658_659del ENSP00000499570.2:p.Val220IlefsTer4
ENST00000666593.2:c.658_659del ENSP00000499256.2:p.Val220IlefsTer4
ENST00000700202.2:c.658_659del ENSP00000514856.2:p.Val220IlefsTer4
ENST00000700201.1:c.*437_*438del ENSP00000514855.1:n.*437_*438del
ENST00000380152.8:c.658_659del MANE Select ENSP00000369497.3:p.Val220IlefsTer4
ENST00000544455.6:c.658_659del ENSP00000439902.1:p.Val220IlefsTer4
ENST00000614259.2:c.658_659del ENSP00000506251.1:p.Val220IlefsTer4
ENST00000680887.1:c.658_659del ENSP00000505508.1:p.Val220IlefsTer4
ENST00000380152.7:c.658_659del ENSP00000369497.3:p.Val220IlefsTer4
ENST00000530893.6:n.856_857del
ENST00000544455.5:c.658_659del ENSP00000439902.1:p.Val220IlefsTer4
ENST00000614259.1:n.658_659del
NM_000059.3:c.658_659del , LRG_293t1:c.658_659del NP_000050.2:p.Val220IlefsTer4
XM_011535203.1:c.658_659del XP_011533505.1:p.Val220IlefsTer4
XM_011535204.1:c.658_659del XP_011533506.1:p.Val220IlefsTer4
XM_011535205.1:c.658_659del XP_011533507.1:p.Val220IlefsTer4
NM_000059.4:c.658_659del MANE Select NP_000050.3:p.Val220IlefsTer4