Canonical Allele Identifier: CA026141
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38239
ClinVar RCV Id: RCV002250497
dbSNP Id: rs80359759
MyVariant Identifiers: chr13:g.32968970del (hg19) chr13:g.32394833del (hg38)
PubMed: PMID:14531499 PMID:27157322 PMID:27257965 PMID:27741520 PMID:27836010
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394833del , CM000675.2:g.32394833del GRCh38
NC_000013.10:g.32968970del , CM000675.1:g.32968970del GRCh37
NC_000013.9:g.31866970del NCBI36
NG_012772.3:g.84354del , LRG_293:g.84354del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9401del ENSP00000434898.2:p.Gly3134AlafsTer29
ENST00000528762.2:c.*768del ENSP00000433168.2:n.*768del
ENST00000530893.7:c.9032del ENSP00000499438.2:p.Gly3011AlafsTer29
ENST00000665585.2:c.*963del ENSP00000499570.2:n.*963del
ENST00000666593.2:c.*246del ENSP00000499256.2:n.*246del
ENST00000700202.2:c.9350del ENSP00000514856.2:p.Gly3117AlafsTer29
ENST00000700202.1:c.1817del ENSP00000514856.1:p.Gly606AlafsTer29
ENST00000700203.1:n.1528del
ENST00000380152.8:c.9401del MANE Select ENSP00000369497.3:p.Gly3134AlafsTer29
ENST00000544455.6:c.9401del ENSP00000439902.1:p.Gly3134AlafsTer29
ENST00000614259.2:c.9409del ENSP00000506251.1:n.9409del
ENST00000665585.1:c.2279del
ENST00000666593.1:c.423del ENSP00000499256.1:n.423del
ENST00000680887.1:c.9401del ENSP00000505508.1:p.Gly3134AlafsTer29
ENST00000380152.7:c.9401del ENSP00000369497.3:p.Gly3134AlafsTer29
ENST00000470094.1:c.358del
ENST00000544455.5:c.9401del ENSP00000439902.1:p.Gly3134AlafsTer29
NM_000059.3:c.9401del , LRG_293t1:c.9401del NP_000050.2:p.Gly3134AlafsTer29
XM_011535203.1:c.9401del XP_011533505.1:p.Gly3134AlafsTer29
XM_011535204.1:c.9305del XP_011533506.1:p.Gly3102AlafsTer29
NM_000059.4:c.9401del MANE Select NP_000050.3:p.Gly3134AlafsTer29
Search 100 bp 5'
Search 100 bp 3'