Canonical Allele Identifier: CA2082835099
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363272_32363274delinsTTC , CM000675.2:g.32363272_32363274delinsTTC GRCh38
NC_000013.10:g.32937409_32937411delinsTTC , CM000675.1:g.32937409_32937411delinsTTC GRCh37
NC_000013.9:g.31835409_31835411delinsTTC NCBI36
NG_012772.3:g.52793_52795delinsTTC , LRG_293:g.52793_52795delinsTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8070_8072delinsTTC ENSP00000434898.2:p.Val2690=
ENST00000528762.2:c.8070_8072delinsTTC ENSP00000433168.2:p.Val2690=
ENST00000530893.7:c.7701_7703delinsTTC ENSP00000499438.2:p.Val2567=
ENST00000665585.2:c.8070_8072delinsTTC ENSP00000499570.2:p.Val2690=
ENST00000666593.2:c.8070_8072delinsTTC ENSP00000499256.2:p.Val2690=
ENST00000700202.2:c.8070_8072delinsTTC ENSP00000514856.2:p.Val2690=
ENST00000700202.1:c.537_539delinsTTC ENSP00000514856.1:p.Val179=
ENST00000380152.8:c.8070_8072delinsTTC MANE Select ENSP00000369497.3:p.Val2690=
ENST00000544455.6:c.8070_8072delinsTTC ENSP00000439902.1:p.Val2690=
ENST00000614259.2:c.8078_8080delinsTTC ENSP00000506251.1:n.8078_8080delinsTTC
ENST00000665585.1:c.635_637delinsTTC
ENST00000680887.1:c.8070_8072delinsTTC ENSP00000505508.1:p.Val2690=
ENST00000380152.7:c.8070_8072delinsTTC ENSP00000369497.3:p.Val2690=
ENST00000544455.5:c.8070_8072delinsTTC ENSP00000439902.1:p.Val2690=
NM_000059.3:c.8070_8072delinsTTC , LRG_293t1:c.8070_8072delinsTTC NP_000050.2:p.Val2690=
XM_011535203.1:c.8070_8072delinsTTC XP_011533505.1:p.Val2690=
XM_011535204.1:c.7974_7976delinsTTC XP_011533506.1:p.Val2658=
XM_011535205.1:c.8070_8072delinsTTC XP_011533507.1:p.Val2690=
NM_000059.4:c.8070_8072delinsTTC MANE Select NP_000050.3:p.Val2690=