Canonical Allele Identifier: CA025836
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52685
ClinVar RCV Id: RCV000577287 RCV000661789 RCV001857378
dbSNP Id: rs397508011
MyVariant Identifiers: chr13:g.32953519_32953522del (hg19) chr13:g.32379382_32379385del (hg38)
PubMed: PMID:19087709
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379382_32379385del , CM000675.2:g.32379382_32379385del GRCh38
NC_000013.10:g.32953519_32953522del , CM000675.1:g.32953519_32953522del GRCh37
NC_000013.9:g.31851519_31851522del NCBI36
NG_012772.3:g.68903_68906del , LRG_293:g.68903_68906del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8820_8823del ENSP00000434898.2:p.Gln2941LeufsTer?
ENST00000528762.2:c.*187_*190del ENSP00000433168.2:n.*187_*190del
ENST00000530893.7:c.8451_8454del ENSP00000499438.2:p.Gln2818LeufsTer?
ENST00000665585.2:c.*382_*385del ENSP00000499570.2:n.*382_*385del
ENST00000666593.2:c.8820_8823del ENSP00000499256.2:p.Gln2941LeufsTer?
ENST00000700202.2:c.8820_8823del ENSP00000514856.2:p.Gln2941LeufsTer?
ENST00000700202.1:c.1287_1290del ENSP00000514856.1:p.Gln430LeufsTer?
ENST00000700203.1:n.947_950del
ENST00000380152.8:c.8820_8823del MANE Select ENSP00000369497.3:p.Gln2941LeufsTer?
ENST00000544455.6:c.8820_8823del ENSP00000439902.1:p.Gln2941LeufsTer?
ENST00000614259.2:c.8828_8831del ENSP00000506251.1:n.8828_8831del
ENST00000665585.1:c.1698_1701del
ENST00000680887.1:c.8820_8823del ENSP00000505508.1:p.Gln2941LeufsTer?
ENST00000380152.7:c.8820_8823del ENSP00000369497.3:p.Gln2941LeufsTer?
ENST00000528762.1:c.382_385del ENSP00000433168.1:n.382_385del
ENST00000544455.5:c.8820_8823del ENSP00000439902.1:p.Gln2941LeufsTer?
NM_000059.3:c.8820_8823del , LRG_293t1:c.8820_8823del NP_000050.2:p.Gln2941LeufsTer?
XM_011535203.1:c.8820_8823del XP_011533505.1:p.Gln2941LeufsTer?
XM_011535204.1:c.8724_8727del XP_011533506.1:p.Gln2909LeufsTer?
XM_011535205.1:c.8755-368_8755-365del XP_011533507.1:n.8755-368_8755-365del
NM_000059.4:c.8820_8823del MANE Select NP_000050.3:p.Gln2941LeufsTer?
Search 100 bp 5'
Search 100 bp 3'