Canonical Allele Identifier: CA2082822245
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394721_32394725delinsTGTTA , CM000675.2:g.32394721_32394725delinsTGTTA GRCh38
NC_000013.10:g.32968858_32968862delinsTGTTA , CM000675.1:g.32968858_32968862delinsTGTTA GRCh37
NC_000013.9:g.31866858_31866862delinsTGTTA NCBI36
NG_012772.3:g.84242_84246delinsTGTTA , LRG_293:g.84242_84246delinsTGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9289_9293delinsTGTTA ENSP00000434898.2:p.Cys3097=
ENST00000528762.2:c.*656_*660delinsTGTTA ENSP00000433168.2:n.*656_*660delinsTGTTA
ENST00000530893.7:c.8920_8924delinsTGTTA ENSP00000499438.2:p.Cys2974=
ENST00000665585.2:c.*851_*855delinsTGTTA ENSP00000499570.2:n.*851_*855delinsTGTTA
ENST00000666593.2:c.*134_*138delinsTGTTA ENSP00000499256.2:n.*134_*138delinsTGTTA
ENST00000700202.2:c.9238_9242delinsTGTTA ENSP00000514856.2:p.Cys3080=
ENST00000700202.1:c.1705_1709delinsTGTTA ENSP00000514856.1:p.Cys569=
ENST00000700203.1:n.1416_1420delinsTGTTA
ENST00000380152.8:c.9289_9293delinsTGTTA MANE Select ENSP00000369497.3:p.Cys3097=
ENST00000544455.6:c.9289_9293delinsTGTTA ENSP00000439902.1:p.Cys3097=
ENST00000614259.2:c.9297_9301delinsTGTTA ENSP00000506251.1:n.9297_9301delinsTGTTA
ENST00000665585.1:c.2167_2171delinsTGTTA
ENST00000666593.1:c.311_315delinsTGTTA ENSP00000499256.1:n.311_315delinsTGTTA
ENST00000680887.1:c.9289_9293delinsTGTTA ENSP00000505508.1:p.Cys3097=
ENST00000380152.7:c.9289_9293delinsTGTTA ENSP00000369497.3:p.Cys3097=
ENST00000470094.1:c.246_250delinsTGTTA
ENST00000544455.5:c.9289_9293delinsTGTTA ENSP00000439902.1:p.Cys3097=
NM_000059.3:c.9289_9293delinsTGTTA , LRG_293t1:c.9289_9293delinsTGTTA NP_000050.2:p.Cys3097=
XM_011535203.1:c.9289_9293delinsTGTTA XP_011533505.1:p.Cys3097=
XM_011535204.1:c.9193_9197delinsTGTTA XP_011533506.1:p.Cys3065=
NM_000059.4:c.9289_9293delinsTGTTA MANE Select NP_000050.3:p.Cys3097=