Canonical Allele Identifier: CA2580087226
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1734946

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338145_32338155delinsTTATC , CM000675.2:g.32338145_32338155delinsTTATC GRCh38
NC_000013.10:g.32912282_32912292delinsTTATC , CM000675.1:g.32912282_32912292delinsTTATC GRCh37
NC_000013.9:g.31810282_31810292delinsTTATC NCBI36
NG_012772.3:g.27666_27676delinsTTATC , LRG_293:g.27666_27676delinsTTATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3790_3800delinsTTATC ENSP00000434898.2:p.Lys1264_Asp1267delinsLeuSer
ENST00000528762.2:c.3790_3800delinsTTATC ENSP00000433168.2:p.Lys1264_Asp1267delinsLeuSer
ENST00000530893.7:c.3421_3431delinsTTATC ENSP00000499438.2:p.Lys1141_Asp1144delinsLeuSer
ENST00000665585.2:c.3790_3800delinsTTATC ENSP00000499570.2:p.Lys1264_Asp1267delinsLeuSer
ENST00000666593.2:c.3790_3800delinsTTATC ENSP00000499256.2:p.Lys1264_Asp1267delinsLeuSer
ENST00000700202.2:c.3790_3800delinsTTATC ENSP00000514856.2:p.Lys1264_Asp1267delinsLeuSer
ENST00000380152.8:c.3790_3800delinsTTATC MANE Select ENSP00000369497.3:p.Lys1264_Asp1267delinsLeuSer
ENST00000544455.6:c.3790_3800delinsTTATC ENSP00000439902.1:p.Lys1264_Asp1267delinsLeuSer
ENST00000614259.2:c.3790_3800delinsTTATC ENSP00000506251.1:p.Lys1264_Asp1267delinsLeuSer
ENST00000680887.1:c.3790_3800delinsTTATC ENSP00000505508.1:p.Lys1264_Asp1267delinsLeuSer
ENST00000380152.7:c.3790_3800delinsTTATC ENSP00000369497.3:p.Lys1264_Asp1267delinsLeuSer
ENST00000544455.5:c.3790_3800delinsTTATC ENSP00000439902.1:p.Lys1264_Asp1267delinsLeuSer
ENST00000614259.1:n.3790_3800delinsTTATC
NM_000059.3:c.3790_3800delinsTTATC , LRG_293t1:c.3790_3800delinsTTATC NP_000050.2:p.Lys1264_Asp1267delinsLeuSer
XM_011535203.1:c.3790_3800delinsTTATC XP_011533505.1:p.Lys1264_Asp1267delinsLeuSer
XM_011535204.1:c.3790_3800delinsTTATC XP_011533506.1:p.Lys1264_Asp1267delinsLeuSer
XM_011535205.1:c.3790_3800delinsTTATC XP_011533507.1:p.Lys1264_Asp1267delinsLeuSer
NM_000059.4:c.3790_3800delinsTTATC MANE Select NP_000050.3:p.Lys1264_Asp1267delinsLeuSer