Canonical Allele Identifier: CA2082822272
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394722_32394729delinsGTTACAAT , CM000675.2:g.32394722_32394729delinsGTTACAAT GRCh38
NC_000013.10:g.32968859_32968866delinsGTTACAAT , CM000675.1:g.32968859_32968866delinsGTTACAAT GRCh37
NC_000013.9:g.31866859_31866866delinsGTTACAAT NCBI36
NG_012772.3:g.84243_84250delinsGTTACAAT , LRG_293:g.84243_84250delinsGTTACAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9290_9297delinsGTTACAAT ENSP00000434898.2:p.Cys3097=
ENST00000528762.2:c.*657_*664delinsGTTACAAT ENSP00000433168.2:n.*657_*664delinsGTTACAAT
ENST00000530893.7:c.8921_8928delinsGTTACAAT ENSP00000499438.2:p.Cys2974=
ENST00000665585.2:c.*852_*859delinsGTTACAAT ENSP00000499570.2:n.*852_*859delinsGTTACAAT
ENST00000666593.2:c.*135_*142delinsGTTACAAT ENSP00000499256.2:n.*135_*142delinsGTTACAAT
ENST00000700202.2:c.9239_9246delinsGTTACAAT ENSP00000514856.2:p.Cys3080=
ENST00000700202.1:c.1706_1713delinsGTTACAAT ENSP00000514856.1:p.Cys569=
ENST00000700203.1:n.1417_1424delinsGTTACAAT
ENST00000380152.8:c.9290_9297delinsGTTACAAT MANE Select ENSP00000369497.3:p.Cys3097=
ENST00000544455.6:c.9290_9297delinsGTTACAAT ENSP00000439902.1:p.Cys3097=
ENST00000614259.2:c.9298_9305delinsGTTACAAT ENSP00000506251.1:n.9298_9305delinsGTTACAAT
ENST00000665585.1:c.2168_2175delinsGTTACAAT
ENST00000666593.1:c.312_319delinsGTTACAAT ENSP00000499256.1:n.312_319delinsGTTACAAT
ENST00000680887.1:c.9290_9297delinsGTTACAAT ENSP00000505508.1:p.Cys3097=
ENST00000380152.7:c.9290_9297delinsGTTACAAT ENSP00000369497.3:p.Cys3097=
ENST00000470094.1:c.247_254delinsGTTACAAT
ENST00000544455.5:c.9290_9297delinsGTTACAAT ENSP00000439902.1:p.Cys3097=
NM_000059.3:c.9290_9297delinsGTTACAAT , LRG_293t1:c.9290_9297delinsGTTACAAT NP_000050.2:p.Cys3097=
XM_011535203.1:c.9290_9297delinsGTTACAAT XP_011533505.1:p.Cys3097=
XM_011535204.1:c.9194_9201delinsGTTACAAT XP_011533506.1:p.Cys3065=
NM_000059.4:c.9290_9297delinsGTTACAAT MANE Select NP_000050.3:p.Cys3097=