Canonical Allele Identifier: CA10579820
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233724
ClinVar RCV Id: RCV000213244 RCV000661387
dbSNP Id: rs876660599
MyVariant Identifiers: chr13:g.32954259del (hg19) chr13:g.32380122del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380122del , CM000675.2:g.32380122del GRCh38
NC_000013.10:g.32954259del , CM000675.1:g.32954259del GRCh37
NC_000013.9:g.31852259del NCBI36
NG_012772.3:g.69643del , LRG_293:g.69643del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9233del ENSP00000434898.2:p.Val3078AlafsTer5
ENST00000528762.2:c.*600del ENSP00000433168.2:n.*600del
ENST00000530893.7:c.8864del ENSP00000499438.2:p.Val2955AlafsTer5
ENST00000665585.2:c.*795del ENSP00000499570.2:n.*795del
ENST00000666593.2:c.9233del ENSP00000499256.2:p.Val3078AlafsTer5
ENST00000700202.2:c.9182del ENSP00000514856.2:p.Val3061AlafsTer5
ENST00000700202.1:c.1649del ENSP00000514856.1:p.Val550AlafsTer5
ENST00000700203.1:n.1360del
ENST00000380152.8:c.9233del MANE Select ENSP00000369497.3:p.Val3078AlafsTer5
ENST00000544455.6:c.9233del ENSP00000439902.1:p.Val3078AlafsTer5
ENST00000614259.2:c.9241del ENSP00000506251.1:n.9241del
ENST00000665585.1:c.2111del
ENST00000666593.1:c.116del ENSP00000499256.1:p.Val39AlafsTer5
ENST00000680887.1:c.9233del ENSP00000505508.1:p.Val3078AlafsTer5
ENST00000380152.7:c.9233del ENSP00000369497.3:p.Val3078AlafsTer5
ENST00000470094.1:c.190del
ENST00000544455.5:c.9233del ENSP00000439902.1:p.Val3078AlafsTer5
NM_000059.3:c.9233del , LRG_293t1:c.9233del NP_000050.2:p.Val3078AlafsTer5
XM_011535203.1:c.9233del XP_011533505.1:p.Val3078AlafsTer5
XM_011535204.1:c.9137del XP_011533506.1:p.Val3046AlafsTer5
NM_000059.4:c.9233del MANE Select NP_000050.3:p.Val3078AlafsTer5
Search 100 bp 5'
Search 100 bp 3'