Canonical Allele Identifier: CA013353
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37762
ClinVar RCV Id: RCV000031343 RCV000043897 RCV000131453 RCV000160269 RCV000768624 RCV001391213 RCV001310172 RCV001642272 RCV001824580 RCV001762061 RCV003330405
dbSNP Id: rs80359306
ExAC: 13:32907420 G / GA
gnomAD v2: 13-32907420-G-GA
gnomAD v3: 13-32333283-G-GA
gnomAD v4: 13-32333283-G-GA
COSMIC: COSM23925 COSM1163038 COSM1163039
MyVariant Identifiers: chr13:g.32907428_32907429insA (hg19) chr13:g.32907421_32907422insA (hg19) chr13:g.32907420_32907421insA (hg19) chr13:g.32333291dupA (hg38) chr13:g.32333291_32333292insA (hg38) chr13:g.32333283_32333284insA (hg38)
PubMed: PMID:8665505 PMID:9150150 PMID:9585613 PMID:9667259 PMID:10699917 PMID:15024741 PMID:15070707 PMID:15689453 PMID:18042939 PMID:20104584 PMID:21232165 PMID:21324516 PMID:21548014 PMID:21952622 PMID:22535016 PMID:22729890 PMID:23199084 PMID:25072261 PMID:25085752 PMID:26295337 PMID:26834852 PMID:28324225
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333291dup , CM000675.2:g.32333291dup GRCh38
NC_000013.10:g.32907428dup , CM000675.1:g.32907428dup GRCh37
NC_000013.9:g.31805428dup NCBI36
NG_012772.3:g.22812dup , LRG_293:g.22812dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.1813dup ENSP00000434898.2:p.Ile605AsnfsTer11
ENST00000528762.2:c.1813dup ENSP00000433168.2:p.Ile605AsnfsTer11
ENST00000530893.7:c.1444dup ENSP00000499438.2:p.Ile482AsnfsTer11
ENST00000665585.2:c.1813dup ENSP00000499570.2:p.Ile605AsnfsTer11
ENST00000666593.2:c.1813dup ENSP00000499256.2:p.Ile605AsnfsTer11
ENST00000700202.2:c.1813dup ENSP00000514856.2:p.Ile605AsnfsTer11
ENST00000380152.8:c.1813dup MANE Select ENSP00000369497.3:p.Ile605AsnfsTer11
ENST00000544455.6:c.1813dup ENSP00000439902.1:p.Ile605AsnfsTer11
ENST00000614259.2:c.1813dup ENSP00000506251.1:p.Ile605AsnfsTer11
ENST00000680887.1:c.1813dup ENSP00000505508.1:p.Ile605AsnfsTer11
ENST00000380152.7:c.1813dup ENSP00000369497.3:p.Ile605AsnfsTer11
ENST00000544455.5:c.1813dup ENSP00000439902.1:p.Ile605AsnfsTer11
ENST00000614259.1:n.1813dup
NM_000059.3:c.1813dup , LRG_293t1:c.1813dup NP_000050.2:p.Ile605AsnfsTer11
XM_011535203.1:c.1813dup XP_011533505.1:p.Ile605AsnfsTer11
XM_011535204.1:c.1813dup XP_011533506.1:p.Ile605AsnfsTer11
XM_011535205.1:c.1813dup XP_011533507.1:p.Ile605AsnfsTer11
NM_000059.4:c.1813dup MANE Select NP_000050.3:p.Ile605AsnfsTer11
Search 100 bp 5'
Search 100 bp 3'