Canonical Allele Identifier: CA16619698
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418080
ClinVar RCV Id: RCV000480422 RCV000661634
dbSNP Id: rs1064793064
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338000_32338002delinsTA , CM000675.2:g.32338000_32338002delinsTA GRCh38
NC_000013.10:g.32912137_32912139delinsTA , CM000675.1:g.32912137_32912139delinsTA GRCh37
NC_000013.9:g.31810137_31810139delinsTA NCBI36
NG_012772.3:g.27521_27523delinsTA , LRG_293:g.27521_27523delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.3645_3647delinsTA ENSP00000434898.2:p.Phe1216IlefsTer12
ENST00000528762.2:c.3645_3647delinsTA ENSP00000433168.2:p.Phe1216IlefsTer12
ENST00000530893.7:c.3276_3278delinsTA ENSP00000499438.2:p.Phe1093IlefsTer12
ENST00000665585.2:c.3645_3647delinsTA ENSP00000499570.2:p.Phe1216IlefsTer12
ENST00000666593.2:c.3645_3647delinsTA ENSP00000499256.2:p.Phe1216IlefsTer12
ENST00000700202.2:c.3645_3647delinsTA ENSP00000514856.2:p.Phe1216IlefsTer12
ENST00000380152.8:c.3645_3647delinsTA MANE Select ENSP00000369497.3:p.Phe1216IlefsTer12
ENST00000544455.6:c.3645_3647delinsTA ENSP00000439902.1:p.Phe1216IlefsTer12
ENST00000614259.2:c.3645_3647delinsTA ENSP00000506251.1:p.Phe1216IlefsTer12
ENST00000680887.1:c.3645_3647delinsTA ENSP00000505508.1:p.Phe1216IlefsTer12
ENST00000380152.7:c.3645_3647delinsTA ENSP00000369497.3:p.Phe1216IlefsTer12
ENST00000544455.5:c.3645_3647delinsTA ENSP00000439902.1:p.Phe1216IlefsTer12
ENST00000614259.1:n.3645_3647delinsTA
NM_000059.3:c.3645_3647delinsTA , LRG_293t1:c.3645_3647delinsTA NP_000050.2:p.Phe1216IlefsTer12
XM_011535203.1:c.3645_3647delinsTA XP_011533505.1:p.Phe1216IlefsTer12
XM_011535204.1:c.3645_3647delinsTA XP_011533506.1:p.Phe1216IlefsTer12
XM_011535205.1:c.3645_3647delinsTA XP_011533507.1:p.Phe1216IlefsTer12
NM_000059.4:c.3645_3647delinsTA MANE Select NP_000050.3:p.Phe1216IlefsTer12
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