Canonical Allele Identifier: CA2082834460
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398233T= , CM000675.2:g.32398233T= GRCh38
NC_000013.10:g.32972370T= , CM000675.1:g.32972370T= GRCh37
NC_000013.9:g.31870370T= NCBI36
NG_012772.3:g.87754T= , LRG_293:g.87754T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*243T= ENSP00000434898.2:n.*243T=
ENST00000528762.2:c.*1087T= ENSP00000433168.2:n.*1087T=
ENST00000530893.7:c.9351T= ENSP00000499438.2:p.Val3117=
ENST00000665585.2:c.*1282T= ENSP00000499570.2:n.*1282T=
ENST00000700202.2:c.9669T= ENSP00000514856.2:p.Val3223=
ENST00000700202.1:c.2136T= ENSP00000514856.1:p.Val712=
ENST00000700203.1:n.1847T=
ENST00000380152.8:c.9720T= MANE Select ENSP00000369497.3:p.Val3240=
ENST00000544455.6:c.9720T= ENSP00000439902.1:p.Val3240=
ENST00000614259.2:c.9728T= ENSP00000506251.1:n.9728T=
ENST00000665585.1:c.2598T=
ENST00000680887.1:c.9720T= ENSP00000505508.1:p.Val3240=
ENST00000380152.7:c.9720T= ENSP00000369497.3:p.Val3240=
ENST00000470094.1:c.803T=
ENST00000533776.1:n.308T=
ENST00000544455.5:c.9720T= ENSP00000439902.1:p.Val3240=
NM_000059.3:c.9720T= , LRG_293t1:c.9720T= NP_000050.2:p.Val3240=
XM_011535203.1:c.9720T= XP_011533505.1:p.Val3240=
XM_011535204.1:c.9624T= XP_011533506.1:p.Val3208=
NM_000059.4:c.9720T= MANE Select NP_000050.3:p.Val3240=