Canonical Allele Identifier: CA2082833991
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398180G= , CM000675.2:g.32398180G= GRCh38
NC_000013.10:g.32972317G= , CM000675.1:g.32972317G= GRCh37
NC_000013.9:g.31870317G= NCBI36
NG_012772.3:g.87701G= , LRG_293:g.87701G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*190G= ENSP00000434898.2:n.*190G=
ENST00000528762.2:c.*1034G= ENSP00000433168.2:n.*1034G=
ENST00000530893.7:c.9298G= ENSP00000499438.2:p.Glu3100=
ENST00000665585.2:c.*1229G= ENSP00000499570.2:n.*1229G=
ENST00000700202.2:c.9616G= ENSP00000514856.2:p.Glu3206=
ENST00000700202.1:c.2083G= ENSP00000514856.1:p.Glu695=
ENST00000700203.1:n.1794G=
ENST00000380152.8:c.9667G= MANE Select ENSP00000369497.3:p.Glu3223=
ENST00000544455.6:c.9667G= ENSP00000439902.1:p.Glu3223=
ENST00000614259.2:c.9675G= ENSP00000506251.1:n.9675G=
ENST00000665585.1:c.2545G=
ENST00000680887.1:c.9667G= ENSP00000505508.1:p.Glu3223=
ENST00000380152.7:c.9667G= ENSP00000369497.3:p.Glu3223=
ENST00000470094.1:c.750G=
ENST00000533776.1:n.255G=
ENST00000544455.5:c.9667G= ENSP00000439902.1:p.Glu3223=
NM_000059.3:c.9667G= , LRG_293t1:c.9667G= NP_000050.2:p.Glu3223=
XM_011535203.1:c.9667G= XP_011533505.1:p.Glu3223=
XM_011535204.1:c.9571G= XP_011533506.1:p.Glu3191=
NM_000059.4:c.9667G= MANE Select NP_000050.3:p.Glu3223=