Canonical Allele Identifier: CA022586
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37975
ClinVar RCV Id: RCV001289538 RCV001353722 RCV003162273
dbSNP Id: rs80359520
ExAC: 13:32914065 CAATT / C
gnomAD v2: 13-32914065-CAATT-C
gnomAD v3: 13-32339928-CAATT-C
gnomAD v4: 13-32339928-CAATT-C
COSMIC: COSM5514089 COSM5514090
MyVariant Identifiers: chr13:g.32914068_32914071del (hg19) chr13:g.32914066_32914069del (hg19) chr13:g.32339931_32339934del (hg38) chr13:g.32339929_32339932del (hg38)
PubMed: PMID:8705994 PMID:12845657 PMID:17262179 PMID:18465347 PMID:19016756 PMID:19471317 PMID:20104584 PMID:21120943 PMID:21233401 PMID:21497495 PMID:22160602 PMID:22713736 PMID:22762150 PMID:22798144 PMID:23479189 PMID:23633455 PMID:23683081 PMID:24728189 PMID:25777348 PMID:26295337 PMID:26848529
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339931_32339934del , CM000675.2:g.32339931_32339934del GRCh38
NC_000013.10:g.32914068_32914071del , CM000675.1:g.32914068_32914071del GRCh37
NC_000013.9:g.31812068_31812071del NCBI36
NG_012772.3:g.29452_29455del , LRG_293:g.29452_29455del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5576_5579del ENSP00000434898.2:p.Ile1859LysfsTer3
ENST00000528762.2:c.5576_5579del ENSP00000433168.2:p.Ile1859LysfsTer3
ENST00000530893.7:c.5207_5210del ENSP00000499438.2:p.Ile1736LysfsTer3
ENST00000665585.2:c.5576_5579del ENSP00000499570.2:p.Ile1859LysfsTer3
ENST00000666593.2:c.5576_5579del ENSP00000499256.2:p.Ile1859LysfsTer3
ENST00000700202.2:c.5576_5579del ENSP00000514856.2:p.Ile1859LysfsTer3
ENST00000380152.8:c.5576_5579del MANE Select ENSP00000369497.3:p.Ile1859LysfsTer3
ENST00000544455.6:c.5576_5579del ENSP00000439902.1:p.Ile1859LysfsTer3
ENST00000614259.2:c.5576_5579del ENSP00000506251.1:p.Ile1859LysfsTer3
ENST00000680887.1:c.5576_5579del ENSP00000505508.1:p.Ile1859LysfsTer3
ENST00000380152.7:c.5576_5579del ENSP00000369497.3:p.Ile1859LysfsTer3
ENST00000544455.5:c.5576_5579del ENSP00000439902.1:p.Ile1859LysfsTer3
ENST00000614259.1:n.5576_5579del
NM_000059.3:c.5576_5579del , LRG_293t1:c.5576_5579del NP_000050.2:p.Ile1859LysfsTer3
XM_011535203.1:c.5576_5579del XP_011533505.1:p.Ile1859LysfsTer3
XM_011535204.1:c.5576_5579del XP_011533506.1:p.Ile1859LysfsTer3
XM_011535205.1:c.5576_5579del XP_011533507.1:p.Ile1859LysfsTer3
NM_000059.4:c.5576_5579del MANE Select NP_000050.3:p.Ile1859LysfsTer3
Search 100 bp 5'
Search 100 bp 3'