Canonical Allele Identifier: CA024252
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 254587
ClinVar RCV Id: RCV000241493
dbSNP Id: rs606231404
MyVariant Identifiers: chr13:g.32915137_32915141del (hg19) chr13:g.32915136_32915140del (hg19) chr13:g.32341000_32341004del (hg38) chr13:g.32340999_32341003del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32341000_32341004del , CM000675.2:g.32341000_32341004del GRCh38
NC_000013.10:g.32915137_32915141del , CM000675.1:g.32915137_32915141del GRCh37
NC_000013.9:g.31813137_31813141del NCBI36
NG_012772.3:g.30521_30525del , LRG_293:g.30521_30525del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.6645_6649del ENSP00000434898.2:p.Tyr2215Ter
ENST00000528762.2:c.6645_6649del ENSP00000433168.2:p.Tyr2215Ter
ENST00000530893.7:c.6276_6280del ENSP00000499438.2:p.Tyr2092Ter
ENST00000665585.2:c.6645_6649del ENSP00000499570.2:p.Tyr2215Ter
ENST00000666593.2:c.6645_6649del ENSP00000499256.2:p.Tyr2215Ter
ENST00000700202.2:c.6645_6649del ENSP00000514856.2:p.Tyr2215Ter
ENST00000380152.8:c.6645_6649del MANE Select ENSP00000369497.3:p.Tyr2215Ter
ENST00000544455.6:c.6645_6649del ENSP00000439902.1:p.Tyr2215Ter
ENST00000614259.2:c.6645_6649del ENSP00000506251.1:p.Tyr2215Ter
ENST00000680887.1:c.6645_6649del ENSP00000505508.1:p.Tyr2215Ter
ENST00000380152.7:c.6645_6649del ENSP00000369497.3:p.Tyr2215Ter
ENST00000544455.5:c.6645_6649del ENSP00000439902.1:p.Tyr2215Ter
ENST00000614259.1:n.6645_6649del
NM_000059.3:c.6645_6649del , LRG_293t1:c.6645_6649del NP_000050.2:p.Tyr2215Ter
XM_011535203.1:c.6645_6649del XP_011533505.1:p.Tyr2215Ter
XM_011535204.1:c.6645_6649del XP_011533506.1:p.Tyr2215Ter
XM_011535205.1:c.6645_6649del XP_011533507.1:p.Tyr2215Ter
NM_000059.4:c.6645_6649del MANE Select NP_000050.3:p.Tyr2215Ter
Search 100 bp 5'
Search 100 bp 3'