Canonical Allele Identifier: CA012798
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51168
ClinVar RCV Id: RCV000043855 RCV000077260 RCV000130097 RCV000759580
dbSNP Id: rs80359297
gnomAD v4: 13-32333131-CT-C
MyVariant Identifiers: chr13:g.32907269del (hg19) chr13:g.32333132del (hg38)
PubMed: PMID:12491487 PMID:12942367
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333132del , CM000675.2:g.32333132del GRCh38
NC_000013.10:g.32907269del , CM000675.1:g.32907269del GRCh37
NC_000013.9:g.31805269del NCBI36
NG_012772.3:g.22653del , LRG_293:g.22653del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1654del ENSP00000434898.2:p.Ser552ProfsTer6
ENST00000528762.2:c.1654del ENSP00000433168.2:p.Ser552ProfsTer6
ENST00000530893.7:c.1285del ENSP00000499438.2:p.Ser429ProfsTer6
ENST00000665585.2:c.1654del ENSP00000499570.2:p.Ser552ProfsTer6
ENST00000666593.2:c.1654del ENSP00000499256.2:p.Ser552ProfsTer6
ENST00000700202.2:c.1654del ENSP00000514856.2:p.Ser552ProfsTer6
ENST00000700201.1:c.*1433del ENSP00000514855.1:n.*1433del
ENST00000380152.8:c.1654del MANE Select ENSP00000369497.3:p.Ser552ProfsTer6
ENST00000544455.6:c.1654del ENSP00000439902.1:p.Ser552ProfsTer6
ENST00000614259.2:c.1654del ENSP00000506251.1:p.Ser552ProfsTer6
ENST00000680887.1:c.1654del ENSP00000505508.1:p.Ser552ProfsTer6
ENST00000380152.7:c.1654del ENSP00000369497.3:p.Ser552ProfsTer6
ENST00000530893.6:n.1852del
ENST00000544455.5:c.1654del ENSP00000439902.1:p.Ser552ProfsTer6
ENST00000614259.1:n.1654del
NM_000059.3:c.1654del , LRG_293t1:c.1654del NP_000050.2:p.Ser552ProfsTer6
XM_011535203.1:c.1654del XP_011533505.1:p.Ser552ProfsTer6
XM_011535204.1:c.1654del XP_011533506.1:p.Ser552ProfsTer6
XM_011535205.1:c.1654del XP_011533507.1:p.Ser552ProfsTer6
NM_000059.4:c.1654del MANE Select NP_000050.3:p.Ser552ProfsTer6
Search 100 bp 5'
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