Canonical Allele Identifier: CA026077
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38226
ClinVar RCV Id: RCV000031809 RCV001019104
dbSNP Id: rs397507424
MyVariant Identifiers: chr13:g.32968843del (hg19) chr13:g.32394706del (hg38)
PubMed: PMID:25136594
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394706del , CM000675.2:g.32394706del GRCh38
NC_000013.10:g.32968843del , CM000675.1:g.32968843del GRCh37
NC_000013.9:g.31866843del NCBI36
NG_012772.3:g.84227del , LRG_293:g.84227del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9274del ENSP00000434898.2:p.Tyr3092IlefsTer12
ENST00000528762.2:c.*641del ENSP00000433168.2:n.*641del
ENST00000530893.7:c.8905del ENSP00000499438.2:p.Tyr2969IlefsTer12
ENST00000665585.2:c.*836del ENSP00000499570.2:n.*836del
ENST00000666593.2:c.*119del ENSP00000499256.2:n.*119del
ENST00000700202.2:c.9223del ENSP00000514856.2:p.Tyr3075IlefsTer12
ENST00000700202.1:c.1690del ENSP00000514856.1:p.Tyr564IlefsTer12
ENST00000700203.1:n.1401del
ENST00000380152.8:c.9274del MANE Select ENSP00000369497.3:p.Tyr3092IlefsTer12
ENST00000544455.6:c.9274del ENSP00000439902.1:p.Tyr3092IlefsTer12
ENST00000614259.2:c.9282del ENSP00000506251.1:n.9282del
ENST00000665585.1:c.2152del
ENST00000666593.1:c.296del ENSP00000499256.1:n.296del
ENST00000680887.1:c.9274del ENSP00000505508.1:p.Tyr3092IlefsTer12
ENST00000380152.7:c.9274del ENSP00000369497.3:p.Tyr3092IlefsTer12
ENST00000470094.1:c.231del
ENST00000544455.5:c.9274del ENSP00000439902.1:p.Tyr3092IlefsTer12
NM_000059.3:c.9274del , LRG_293t1:c.9274del NP_000050.2:p.Tyr3092IlefsTer12
XM_011535203.1:c.9274del XP_011533505.1:p.Tyr3092IlefsTer12
XM_011535204.1:c.9178del XP_011533506.1:p.Tyr3060IlefsTer12
NM_000059.4:c.9274del MANE Select NP_000050.3:p.Tyr3092IlefsTer12
Search 100 bp 5'
Search 100 bp 3'