Canonical Allele Identifier: CA2082835406
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379324_32379334delinsTCAGTGAAGAG , CM000675.2:g.32379324_32379334delinsTCAGTGAAGAG GRCh38
NC_000013.10:g.32953461_32953471delinsTCAGTGAAGAG , CM000675.1:g.32953461_32953471delinsTCAGTGAAGAG GRCh37
NC_000013.9:g.31851461_31851471delinsTCAGTGAAGAG NCBI36
NG_012772.3:g.68845_68855delinsTCAGTGAAGAG , LRG_293:g.68845_68855delinsTCAGTGAAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8762_8772delinsTCAGTGAAGAG ENSP00000434898.2:p.Phe2921=
ENST00000528762.2:c.*129_*139delinsTCAGTGAAGAG ENSP00000433168.2:n.*129_*139delinsTCAGTGAAGAG
ENST00000530893.7:c.8393_8403delinsTCAGTGAAGAG ENSP00000499438.2:p.Phe2798=
ENST00000665585.2:c.*324_*334delinsTCAGTGAAGAG ENSP00000499570.2:n.*324_*334delinsTCAGTGAAGAG
ENST00000666593.2:c.8762_8772delinsTCAGTGAAGAG ENSP00000499256.2:p.Phe2921=
ENST00000700202.2:c.8762_8772delinsTCAGTGAAGAG ENSP00000514856.2:p.Phe2921=
ENST00000700202.1:c.1229_1239delinsTCAGTGAAGAG ENSP00000514856.1:p.Phe410=
ENST00000700203.1:n.889_899delinsTCAGTGAAGAG
ENST00000380152.8:c.8762_8772delinsTCAGTGAAGAG MANE Select ENSP00000369497.3:p.Phe2921=
ENST00000544455.6:c.8762_8772delinsTCAGTGAAGAG ENSP00000439902.1:p.Phe2921=
ENST00000614259.2:c.8770_8780delinsTCAGTGAAGAG ENSP00000506251.1:n.8770_8780delinsTCAGTGAAGAG
ENST00000665585.1:c.1640_1650delinsTCAGTGAAGAG
ENST00000680887.1:c.8762_8772delinsTCAGTGAAGAG ENSP00000505508.1:p.Phe2921=
ENST00000380152.7:c.8762_8772delinsTCAGTGAAGAG ENSP00000369497.3:p.Phe2921=
ENST00000528762.1:c.324_334delinsTCAGTGAAGAG ENSP00000433168.1:n.324_334delinsTCAGTGAAGAG
ENST00000544455.5:c.8762_8772delinsTCAGTGAAGAG ENSP00000439902.1:p.Phe2921=
NM_000059.3:c.8762_8772delinsTCAGTGAAGAG , LRG_293t1:c.8762_8772delinsTCAGTGAAGAG NP_000050.2:p.Phe2921=
XM_011535203.1:c.8762_8772delinsTCAGTGAAGAG XP_011533505.1:p.Phe2921=
XM_011535204.1:c.8666_8676delinsTCAGTGAAGAG XP_011533506.1:p.Phe2889=
XM_011535205.1:c.8755-426_8755-416delinsTCAGTGAAGAG XP_011533507.1:n.8755-426_8755-416delinsTCAGTGAAGAG
NM_000059.4:c.8762_8772delinsTCAGTGAAGAG MANE Select NP_000050.3:p.Phe2921=