Canonical Allele Identifier: CA025719
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38169
dbSNP Id: rs80359718

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371043del , CM000675.2:g.32371043del GRCh38
NC_000013.10:g.32945180del , CM000675.1:g.32945180del GRCh37
NC_000013.9:g.31843180del NCBI36
NG_012772.3:g.60564del , LRG_293:g.60564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8575del ENSP00000434898.2:p.Gln2859LysfsTer4
ENST00000528762.2:c.8575del ENSP00000433168.2:p.Gln2859LysfsTer4
ENST00000530893.7:c.8206del ENSP00000499438.2:p.Gln2736LysfsTer4
ENST00000665585.2:c.8575del ENSP00000499570.2:p.Gln2859LysfsTer4
ENST00000666593.2:c.8575del ENSP00000499256.2:p.Gln2859LysfsTer4
ENST00000700202.2:c.8575del ENSP00000514856.2:p.Gln2859LysfsTer4
ENST00000700202.1:c.1042del ENSP00000514856.1:p.Gln348LysfsTer4
ENST00000380152.8:c.8575del MANE Select ENSP00000369497.3:p.Gln2859LysfsTer4
ENST00000544455.6:c.8575del ENSP00000439902.1:p.Gln2859LysfsTer4
ENST00000614259.2:c.8583del ENSP00000506251.1:n.8583del
ENST00000665585.1:c.1140del
ENST00000680887.1:c.8575del ENSP00000505508.1:p.Gln2859LysfsTer4
ENST00000380152.7:c.8575del ENSP00000369497.3:p.Gln2859LysfsTer4
ENST00000528762.1:c.73del ENSP00000433168.1:p.Gln25LysfsTer4
ENST00000544455.5:c.8575del ENSP00000439902.1:p.Gln2859LysfsTer4
NM_000059.3:c.8575del , LRG_293t1:c.8575del NP_000050.2:p.Gln2859LysfsTer4
XM_011535203.1:c.8575del XP_011533505.1:p.Gln2859LysfsTer4
XM_011535204.1:c.8479del XP_011533506.1:p.Gln2827LysfsTer4
XM_011535205.1:c.8575del XP_011533507.1:p.Gln2859LysfsTer4
NM_000059.4:c.8575del MANE Select NP_000050.3:p.Gln2859LysfsTer4