Canonical Allele Identifier: CA024993
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs397507907
gnomAD v4: 13-32355101-TCA-T
MyVariant Identifiers: chr13:g.32929241_32929242del (hg19) chr13:g.32355104_32355105del (hg38)
PubMed: PMID:15131399 PMID:24784157 PMID:25330149 PMID:25948282
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32355104_32355105del , CM000675.2:g.32355104_32355105del GRCh38
NC_000013.10:g.32929241_32929242del , CM000675.1:g.32929241_32929242del GRCh37
NC_000013.9:g.31827241_31827242del NCBI36
NG_012772.3:g.44625_44626del , LRG_293:g.44625_44626del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7251_7252del ENSP00000434898.2:p.His2417GlnfsTer3
ENST00000528762.2:c.7251_7252del ENSP00000433168.2:p.His2417GlnfsTer3
ENST00000530893.7:c.6882_6883del ENSP00000499438.2:p.His2294GlnfsTer3
ENST00000665585.2:c.7251_7252del ENSP00000499570.2:p.His2417GlnfsTer3
ENST00000666593.2:c.7251_7252del ENSP00000499256.2:p.His2417GlnfsTer3
ENST00000700202.2:c.7251_7252del ENSP00000514856.2:p.His2417GlnfsTer3
ENST00000380152.8:c.7251_7252del MANE Select ENSP00000369497.3:p.His2417GlnfsTer3
ENST00000544455.6:c.7251_7252del ENSP00000439902.1:p.His2417GlnfsTer3
ENST00000614259.2:c.7251_7252del ENSP00000506251.1:p.His2417GlnfsTer3
ENST00000680887.1:c.7251_7252del ENSP00000505508.1:p.His2417GlnfsTer3
ENST00000380152.7:c.7251_7252del ENSP00000369497.3:p.His2417GlnfsTer3
ENST00000544455.5:c.7251_7252del ENSP00000439902.1:p.His2417GlnfsTer3
ENST00000614259.1:n.7251_7252del
NM_000059.3:c.7251_7252del , LRG_293t1:c.7251_7252del NP_000050.2:p.His2417GlnfsTer3
XM_011535203.1:c.7251_7252del XP_011533505.1:p.His2417GlnfsTer3
XM_011535204.1:c.7155_7156del XP_011533506.1:p.His2385GlnfsTer3
XM_011535205.1:c.7251_7252del XP_011533507.1:p.His2417GlnfsTer3
NM_000059.4:c.7251_7252del MANE Select NP_000050.3:p.His2417GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'