Canonical Allele Identifier: CA10576074
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225754
dbSNP Id: rs869320798

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371034_32371035delinsC , CM000675.2:g.32371034_32371035delinsC GRCh38
NC_000013.10:g.32945171_32945172delinsC , CM000675.1:g.32945171_32945172delinsC GRCh37
NC_000013.9:g.31843171_31843172delinsC NCBI36
NG_012772.3:g.60555_60556delinsC , LRG_293:g.60555_60556delinsC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8566_8567delinsC ENSP00000434898.2:p.Glu2856ArgfsTer7
ENST00000528762.2:c.8566_8567delinsC ENSP00000433168.2:p.Glu2856ArgfsTer7
ENST00000530893.7:c.8197_8198delinsC ENSP00000499438.2:p.Glu2733ArgfsTer7
ENST00000665585.2:c.8566_8567delinsC ENSP00000499570.2:p.Glu2856ArgfsTer7
ENST00000666593.2:c.8566_8567delinsC ENSP00000499256.2:p.Glu2856ArgfsTer7
ENST00000700202.2:c.8566_8567delinsC ENSP00000514856.2:p.Glu2856ArgfsTer7
ENST00000700202.1:c.1033_1034delinsC ENSP00000514856.1:p.Glu345ArgfsTer7
ENST00000380152.8:c.8566_8567delinsC MANE Select ENSP00000369497.3:p.Glu2856ArgfsTer7
ENST00000544455.6:c.8566_8567delinsC ENSP00000439902.1:p.Glu2856ArgfsTer7
ENST00000614259.2:c.8574_8575delinsC ENSP00000506251.1:n.8574_8575delinsC
ENST00000665585.1:c.1131_1132delinsC
ENST00000680887.1:c.8566_8567delinsC ENSP00000505508.1:p.Glu2856ArgfsTer7
ENST00000380152.7:c.8566_8567delinsC ENSP00000369497.3:p.Glu2856ArgfsTer7
ENST00000528762.1:c.64_65delinsC ENSP00000433168.1:p.Glu22ArgfsTer7
ENST00000544455.5:c.8566_8567delinsC ENSP00000439902.1:p.Glu2856ArgfsTer7
NM_000059.3:c.8566_8567delinsC , LRG_293t1:c.8566_8567delinsC NP_000050.2:p.Glu2856ArgfsTer7
XM_011535203.1:c.8566_8567delinsC XP_011533505.1:p.Glu2856ArgfsTer7
XM_011535204.1:c.8470_8471delinsC XP_011533506.1:p.Glu2824ArgfsTer7
XM_011535205.1:c.8566_8567delinsC XP_011533507.1:p.Glu2856ArgfsTer7
NM_000059.4:c.8566_8567delinsC MANE Select NP_000050.3:p.Glu2856ArgfsTer7