Canonical Allele Identifier: CA16619656
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418992
dbSNP Id: rs1064793572

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332799_32332802del , CM000675.2:g.32332799_32332802del GRCh38
NC_000013.10:g.32906936_32906939del , CM000675.1:g.32906936_32906939del GRCh37
NC_000013.9:g.31804936_31804939del NCBI36
NG_012772.3:g.22320_22323del , LRG_293:g.22320_22323del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1321_1324del ENSP00000434898.2:p.Thr441GlnfsTer18
ENST00000528762.2:c.1321_1324del ENSP00000433168.2:p.Thr441GlnfsTer18
ENST00000530893.7:c.952_955del ENSP00000499438.2:p.Thr318GlnfsTer18
ENST00000665585.2:c.1321_1324del ENSP00000499570.2:p.Thr441GlnfsTer18
ENST00000666593.2:c.1321_1324del ENSP00000499256.2:p.Thr441GlnfsTer18
ENST00000700202.2:c.1321_1324del ENSP00000514856.2:p.Thr441GlnfsTer18
ENST00000700201.1:c.*1100_*1103del ENSP00000514855.1:n.*1100_*1103del
ENST00000380152.8:c.1321_1324del MANE Select ENSP00000369497.3:p.Thr441GlnfsTer18
ENST00000544455.6:c.1321_1324del ENSP00000439902.1:p.Thr441GlnfsTer18
ENST00000614259.2:c.1321_1324del ENSP00000506251.1:p.Thr441GlnfsTer18
ENST00000680887.1:c.1321_1324del ENSP00000505508.1:p.Thr441GlnfsTer18
ENST00000380152.7:c.1321_1324del ENSP00000369497.3:p.Thr441GlnfsTer18
ENST00000530893.6:n.1519_1522del
ENST00000544455.5:c.1321_1324del ENSP00000439902.1:p.Thr441GlnfsTer18
ENST00000614259.1:n.1321_1324del
NM_000059.3:c.1321_1324del , LRG_293t1:c.1321_1324del NP_000050.2:p.Thr441GlnfsTer18
XM_011535203.1:c.1321_1324del XP_011533505.1:p.Thr441GlnfsTer18
XM_011535204.1:c.1321_1324del XP_011533506.1:p.Thr441GlnfsTer18
XM_011535205.1:c.1321_1324del XP_011533507.1:p.Thr441GlnfsTer18
NM_000059.4:c.1321_1324del MANE Select NP_000050.3:p.Thr441GlnfsTer18