Canonical Allele Identifier: CA023256
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37998
ClinVar RCV Id: RCV000044761 RCV000113485 RCV000131107 RCV000160298 RCV000472040
dbSNP Id: rs80359538
MyVariant Identifiers: chr13:g.32914291_32914294del (hg19) chr13:g.32340154_32340157del (hg38)
PubMed: PMID:11170890 PMID:15131399 PMID:22109874 PMID:22682623 PMID:23891399 PMID:24312913 PMID:26221963 PMID:26295337 PMID:26681312 PMID:28008555 PMID:28127413 PMID:28495237
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340154_32340157del , CM000675.2:g.32340154_32340157del GRCh38
NC_000013.10:g.32914291_32914294del , CM000675.1:g.32914291_32914294del GRCh37
NC_000013.9:g.31812291_31812294del NCBI36
NG_012772.3:g.29675_29678del , LRG_293:g.29675_29678del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5799_5802del ENSP00000434898.2:p.Asn1933LysfsTer29
ENST00000528762.2:c.5799_5802del ENSP00000433168.2:p.Asn1933LysfsTer29
ENST00000530893.7:c.5430_5433del ENSP00000499438.2:p.Asn1810LysfsTer29
ENST00000665585.2:c.5799_5802del ENSP00000499570.2:p.Asn1933LysfsTer29
ENST00000666593.2:c.5799_5802del ENSP00000499256.2:p.Asn1933LysfsTer29
ENST00000700202.2:c.5799_5802del ENSP00000514856.2:p.Asn1933LysfsTer29
ENST00000380152.8:c.5799_5802del MANE Select ENSP00000369497.3:p.Asn1933LysfsTer29
ENST00000544455.6:c.5799_5802del ENSP00000439902.1:p.Asn1933LysfsTer29
ENST00000614259.2:c.5799_5802del ENSP00000506251.1:p.Asn1933LysfsTer29
ENST00000680887.1:c.5799_5802del ENSP00000505508.1:p.Asn1933LysfsTer29
ENST00000380152.7:c.5799_5802del ENSP00000369497.3:p.Asn1933LysfsTer29
ENST00000544455.5:c.5799_5802del ENSP00000439902.1:p.Asn1933LysfsTer29
ENST00000614259.1:n.5799_5802del
NM_000059.3:c.5799_5802del , LRG_293t1:c.5799_5802del NP_000050.2:p.Asn1933LysfsTer29
XM_011535203.1:c.5799_5802del XP_011533505.1:p.Asn1933LysfsTer29
XM_011535204.1:c.5799_5802del XP_011533506.1:p.Asn1933LysfsTer29
XM_011535205.1:c.5799_5802del XP_011533507.1:p.Asn1933LysfsTer29
NM_000059.4:c.5799_5802del MANE Select NP_000050.3:p.Asn1933LysfsTer29
Search 100 bp 5'
Search 100 bp 3'