Canonical Allele Identifier: CA026265
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52889
ClinVar RCV Id: RCV001381021 RCV002371882 RCV003473436
dbSNP Id: rs80359774
MyVariant Identifiers: chr13:g.32972326del (hg19) chr13:g.32398189del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398189del , CM000675.2:g.32398189del GRCh38
NC_000013.10:g.32972326del , CM000675.1:g.32972326del GRCh37
NC_000013.9:g.31870326del NCBI36
NG_012772.3:g.87710del , LRG_293:g.87710del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*199del ENSP00000434898.2:n.*199del
ENST00000528762.2:c.*1043del ENSP00000433168.2:n.*1043del
ENST00000530893.7:c.9307del ENSP00000499438.2:p.Tyr3103IlefsTer23
ENST00000665585.2:c.*1238del ENSP00000499570.2:n.*1238del
ENST00000700202.2:c.9625del ENSP00000514856.2:p.Tyr3209IlefsTer23
ENST00000700202.1:c.2092del ENSP00000514856.1:p.Tyr698IlefsTer23
ENST00000700203.1:n.1803del
ENST00000380152.8:c.9676del MANE Select ENSP00000369497.3:p.Tyr3226IlefsTer23
ENST00000544455.6:c.9676del ENSP00000439902.1:p.Tyr3226IlefsTer23
ENST00000614259.2:c.9684del ENSP00000506251.1:n.9684del
ENST00000665585.1:c.2554del
ENST00000680887.1:c.9676del ENSP00000505508.1:p.Tyr3226IlefsTer23
ENST00000380152.7:c.9676del ENSP00000369497.3:p.Tyr3226IlefsTer23
ENST00000470094.1:c.759del
ENST00000533776.1:n.264del
ENST00000544455.5:c.9676del ENSP00000439902.1:p.Tyr3226IlefsTer23
NM_000059.3:c.9676del , LRG_293t1:c.9676del NP_000050.2:p.Tyr3226IlefsTer23
XM_011535203.1:c.9676del XP_011533505.1:p.Tyr3226IlefsTer23
XM_011535204.1:c.9580del XP_011533506.1:p.Tyr3194IlefsTer23
NM_000059.4:c.9676del MANE Select NP_000050.3:p.Tyr3226IlefsTer23
Search 100 bp 5'
Search 100 bp 3'