Canonical Allele Identifier: CA012752
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51165
ClinVar RCV Id: RCV000577621 RCV000661474
dbSNP Id: rs397507599
MyVariant Identifiers: chr13:g.32907261_32907264del (hg19) chr13:g.32333124_32333127del (hg38)
PubMed: PMID:18528753
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333124_32333127del , CM000675.2:g.32333124_32333127del GRCh38
NC_000013.10:g.32907261_32907264del , CM000675.1:g.32907261_32907264del GRCh37
NC_000013.9:g.31805261_31805264del NCBI36
NG_012772.3:g.22645_22648del , LRG_293:g.22645_22648del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1646_1649del ENSP00000434898.2:p.Lys549ArgfsTer8
ENST00000528762.2:c.1646_1649del ENSP00000433168.2:p.Lys549ArgfsTer8
ENST00000530893.7:c.1277_1280del ENSP00000499438.2:p.Lys426ArgfsTer8
ENST00000665585.2:c.1646_1649del ENSP00000499570.2:p.Lys549ArgfsTer8
ENST00000666593.2:c.1646_1649del ENSP00000499256.2:p.Lys549ArgfsTer8
ENST00000700202.2:c.1646_1649del ENSP00000514856.2:p.Lys549ArgfsTer8
ENST00000700201.1:c.*1425_*1428del ENSP00000514855.1:n.*1425_*1428del
ENST00000380152.8:c.1646_1649del MANE Select ENSP00000369497.3:p.Lys549ArgfsTer8
ENST00000544455.6:c.1646_1649del ENSP00000439902.1:p.Lys549ArgfsTer8
ENST00000614259.2:c.1646_1649del ENSP00000506251.1:p.Lys549ArgfsTer8
ENST00000680887.1:c.1646_1649del ENSP00000505508.1:p.Lys549ArgfsTer8
ENST00000380152.7:c.1646_1649del ENSP00000369497.3:p.Lys549ArgfsTer8
ENST00000530893.6:n.1844_1847del
ENST00000544455.5:c.1646_1649del ENSP00000439902.1:p.Lys549ArgfsTer8
ENST00000614259.1:n.1646_1649del
NM_000059.3:c.1646_1649del , LRG_293t1:c.1646_1649del NP_000050.2:p.Lys549ArgfsTer8
XM_011535203.1:c.1646_1649del XP_011533505.1:p.Lys549ArgfsTer8
XM_011535204.1:c.1646_1649del XP_011533506.1:p.Lys549ArgfsTer8
XM_011535205.1:c.1646_1649del XP_011533507.1:p.Lys549ArgfsTer8
NM_000059.4:c.1646_1649del MANE Select NP_000050.3:p.Lys549ArgfsTer8
Search 100 bp 5'
Search 100 bp 3'