Canonical Allele Identifier: CA2622602761
Gene: BRCA2 HGNC NCBI

Linked Data

gnomAD v4: 13-32398498-A-AGGCCGGGCGCGGTGGCTCACGCCTGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398498_32398499insGGCCGGGCGCGGTGGCTCACGCCTGT , CM000675.2:g.32398498_32398499insGGCCGGGCGCGGTGGCTCACGCCTGT GRCh38
NC_000013.10:g.32972635_32972636insGGCCGGGCGCGGTGGCTCACGCCTGT , CM000675.1:g.32972635_32972636insGGCCGGGCGCGGTGGCTCACGCCTGT GRCh37
NC_000013.9:g.31870635_31870636insGGCCGGGCGCGGTGGCTCACGCCTGT NCBI36
NG_012772.3:g.88019_88020insGGCCGGGCGCGGTGGCTCACGCCTGT , LRG_293:g.88019_88020insGGCCGGGCGCGGTGGCTCACGCCTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*508_*509insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000434898.2:n.*508_*509insGGCCGGGCG...
ENST00000528762.2:c.*1352_*1353insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000433168.2:n.*1352_*1353insGGCCGGG...
ENST00000530893.7:c.9616_9617insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000499438.2:p.Asn3206ArgfsTer20
ENST00000665585.2:c.*1547_*1548insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000499570.2:n.*1547_*1548insGGCCGGG...
ENST00000700202.2:c.9934_9935insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000514856.2:p.Asn3312ArgfsTer20
ENST00000700202.1:c.2401_2402insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000514856.1:p.Asn801ArgfsTer20
ENST00000700203.1:n.2112_2113insGGCCGGGCGCGGTGGCTCACGCCTGT
ENST00000380152.8:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT MANE Select ENSP00000369497.3:p.Asn3329ArgfsTer20
ENST00000544455.6:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000439902.1:p.Asn3329ArgfsTer20
ENST00000614259.2:c.9993_9994insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000506251.1:n.9993_9994insGGCCGGGCG...
ENST00000680887.1:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000505508.1:p.Asn3329ArgfsTer20
ENST00000380152.7:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000369497.3:p.Asn3329ArgfsTer20
ENST00000544455.5:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT ENSP00000439902.1:p.Asn3329ArgfsTer20
NM_000059.3:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT , LRG_293t1:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT NP_000050.2:p.Asn3329ArgfsTer20
XM_011535203.1:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT XP_011533505.1:p.Asn3329ArgfsTer20
XM_011535204.1:c.9889_9890insGGCCGGGCGCGGTGGCTCACGCCTGT XP_011533506.1:p.Asn3297ArgfsTer20
NM_000059.4:c.9985_9986insGGCCGGGCGCGGTGGCTCACGCCTGT MANE Select NP_000050.3:p.Asn3329ArgfsTer20
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