Canonical Allele Identifier: CA645372937
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 431351
ClinVar RCV Id: RCV000496285 RCV000661669
dbSNP Id: rs1135401929
MyVariant Identifiers: chr13:g.32953950_32953954del (hg19) chr13:g.32379813_32379817del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379814_32379818del , CM000675.2:g.32379814_32379818del GRCh38
NC_000013.10:g.32953951_32953955del , CM000675.1:g.32953951_32953955del GRCh37
NC_000013.9:g.31851951_31851955del NCBI36
NG_012772.3:g.69335_69339del , LRG_293:g.69335_69339del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9018_9022del ENSP00000434898.2:p.Arg3007LeufsTer9
ENST00000528762.2:c.*385_*389del ENSP00000433168.2:n.*385_*389del
ENST00000530893.7:c.8649_8653del ENSP00000499438.2:p.Arg2884LeufsTer9
ENST00000665585.2:c.*580_*584del ENSP00000499570.2:n.*580_*584del
ENST00000666593.2:c.9018_9022del ENSP00000499256.2:p.Arg3007LeufsTer9
ENST00000700202.2:c.8967_8971del ENSP00000514856.2:p.Arg2990LeufsTer9
ENST00000700202.1:c.1434_1438del ENSP00000514856.1:p.Arg479LeufsTer9
ENST00000700203.1:n.1145_1149del
ENST00000380152.8:c.9018_9022del MANE Select ENSP00000369497.3:p.Arg3007LeufsTer9
ENST00000544455.6:c.9018_9022del ENSP00000439902.1:p.Arg3007LeufsTer9
ENST00000614259.2:c.9026_9030del ENSP00000506251.1:n.9026_9030del
ENST00000665585.1:c.1896_1900del
ENST00000680887.1:c.9018_9022del ENSP00000505508.1:p.Arg3007LeufsTer9
ENST00000380152.7:c.9018_9022del ENSP00000369497.3:p.Arg3007LeufsTer9
ENST00000544455.5:c.9018_9022del ENSP00000439902.1:p.Arg3007LeufsTer9
NM_000059.3:c.9018_9022del , LRG_293t1:c.9018_9022del NP_000050.2:p.Arg3007LeufsTer9
XM_011535203.1:c.9018_9022del XP_011533505.1:p.Arg3007LeufsTer9
XM_011535204.1:c.8922_8926del XP_011533506.1:p.Arg2975LeufsTer9
XM_011535205.1:c.*56_*60del XP_011533507.1:n.*56_*60del
NM_000059.4:c.9018_9022del MANE Select NP_000050.3:p.Arg3007LeufsTer9
Search 100 bp 5'
Search 100 bp 3'