Canonical Allele Identifier: CA025774
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52656
ClinVar RCV Id: RCV000045598 RCV000113985 RCV000222868 RCV000509975 RCV003460624 RCV001310185
dbSNP Id: rs80359724
MyVariant Identifiers: chr13:g.32950847_32950848del (hg19) chr13:g.32376710_32376711del (hg38)
PubMed: PMID:10923033
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376710_32376711del , CM000675.2:g.32376710_32376711del GRCh38
NC_000013.10:g.32950847_32950848del , CM000675.1:g.32950847_32950848del GRCh37
NC_000013.9:g.31848847_31848848del NCBI36
NG_012772.3:g.66231_66232del , LRG_293:g.66231_66232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8673_8674del ENSP00000434898.2:p.Arg2892ThrfsTer14
ENST00000528762.2:c.*40_*41del ENSP00000433168.2:n.*40_*41del
ENST00000530893.7:c.8304_8305del ENSP00000499438.2:p.Arg2769ThrfsTer14
ENST00000665585.2:c.*235_*236del ENSP00000499570.2:n.*235_*236del
ENST00000666593.2:c.8673_8674del ENSP00000499256.2:p.Arg2892ThrfsTer14
ENST00000700202.2:c.8673_8674del ENSP00000514856.2:p.Arg2892ThrfsTer14
ENST00000700202.1:c.1140_1141del ENSP00000514856.1:p.Arg381ThrfsTer14
ENST00000700203.1:n.800_801del
ENST00000380152.8:c.8673_8674del MANE Select ENSP00000369497.3:p.Arg2892ThrfsTer14
ENST00000544455.6:c.8673_8674del ENSP00000439902.1:p.Arg2892ThrfsTer14
ENST00000614259.2:c.8681_8682del ENSP00000506251.1:n.8681_8682del
ENST00000665585.1:c.1551_1552del
ENST00000680887.1:c.8673_8674del ENSP00000505508.1:p.Arg2892ThrfsTer14
ENST00000380152.7:c.8673_8674del ENSP00000369497.3:p.Arg2892ThrfsTer14
ENST00000528762.1:c.235_236del ENSP00000433168.1:n.235_236del
ENST00000544455.5:c.8673_8674del ENSP00000439902.1:p.Arg2892ThrfsTer14
NM_000059.3:c.8673_8674del , LRG_293t1:c.8673_8674del NP_000050.2:p.Arg2892ThrfsTer14
XM_011535203.1:c.8673_8674del XP_011533505.1:p.Arg2892ThrfsTer14
XM_011535204.1:c.8577_8578del XP_011533506.1:p.Arg2860ThrfsTer14
XM_011535205.1:c.8673_8674del XP_011533507.1:p.Arg2892ThrfsTer14
NM_000059.4:c.8673_8674del MANE Select NP_000050.3:p.Arg2892ThrfsTer14
Search 100 bp 5'
Search 100 bp 3'