Canonical Allele Identifier: CA016104
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51330
ClinVar RCV Id: RCV000044041 RCV000077284 RCV000132408 RCV000215325
dbSNP Id: rs80359343
gnomAD v4: 13-32316484-GC-G
MyVariant Identifiers: chr13:g.32890623del (hg19) chr13:g.32316486del (hg38)
PubMed: PMID:3146935 PMID:3413277 PMID:8988179 PMID:11044354 PMID:11879560 PMID:14662532 PMID:17636422 PMID:21702907 PMID:22711857 PMID:23028338 PMID:26295337
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316486del , CM000675.2:g.32316486del GRCh38
NC_000013.10:g.32890623del , CM000675.1:g.32890623del GRCh37
NC_000013.9:g.31788623del NCBI36
NG_012772.3:g.6007del , LRG_293:g.6007del
NG_017006.1:g.470del
NG_017006.2:g.3879del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.26del ENSP00000434898.2:p.Pro9GlnfsTer16
ENST00000528762.2:c.26del ENSP00000433168.2:p.Pro9GlnfsTer16
ENST00000530893.7:c.-340del ENSP00000499438.2:n.-340del
ENST00000665585.2:c.26del ENSP00000499570.2:p.Pro9GlnfsTer16
ENST00000666593.2:c.26del ENSP00000499256.2:p.Pro9GlnfsTer16
ENST00000700202.2:c.26del ENSP00000514856.2:p.Pro9GlnfsTer16
ENST00000700199.1:n.150del
ENST00000700200.1:n.150del
ENST00000700201.1:c.26del ENSP00000514855.1:p.Pro9GlnfsTer16
ENST00000380152.8:c.26del MANE Select ENSP00000369497.3:p.Pro9GlnfsTer16
ENST00000544455.6:c.26del ENSP00000439902.1:p.Pro9GlnfsTer16
ENST00000614259.2:c.26del ENSP00000506251.1:p.Pro9GlnfsTer16
ENST00000680887.1:c.26del ENSP00000505508.1:p.Pro9GlnfsTer16
ENST00000380152.7:c.26del ENSP00000369497.3:p.Pro9GlnfsTer16
ENST00000530893.6:n.228del
ENST00000544455.5:c.26del ENSP00000439902.1:p.Pro9GlnfsTer16
ENST00000614259.1:n.26del
NM_000059.3:c.26del , LRG_293t1:c.26del NP_000050.2:p.Pro9GlnfsTer16
XM_011535203.1:c.26del XP_011533505.1:p.Pro9GlnfsTer16
XM_011535204.1:c.26del XP_011533506.1:p.Pro9GlnfsTer16
XM_011535205.1:c.26del XP_011533507.1:p.Pro9GlnfsTer16
NM_000059.4:c.26del MANE Select NP_000050.3:p.Pro9GlnfsTer16
Search 100 bp 5'
Search 100 bp 3'