Canonical Allele Identifier: CA2082822787
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394762T= , CM000675.2:g.32394762T= GRCh38
NC_000013.10:g.32968899T= , CM000675.1:g.32968899T= GRCh37
NC_000013.9:g.31866899T= NCBI36
NG_012772.3:g.84283T= , LRG_293:g.84283T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9330T= ENSP00000434898.2:p.Asn3110=
ENST00000528762.2:c.*697T= ENSP00000433168.2:n.*697T=
ENST00000530893.7:c.8961T= ENSP00000499438.2:p.Asn2987=
ENST00000665585.2:c.*892T= ENSP00000499570.2:n.*892T=
ENST00000666593.2:c.*175T= ENSP00000499256.2:n.*175T=
ENST00000700202.2:c.9279T= ENSP00000514856.2:p.Asn3093=
ENST00000700202.1:c.1746T= ENSP00000514856.1:p.Asn582=
ENST00000700203.1:n.1457T=
ENST00000380152.8:c.9330T= MANE Select ENSP00000369497.3:p.Asn3110=
ENST00000544455.6:c.9330T= ENSP00000439902.1:p.Asn3110=
ENST00000614259.2:c.9338T= ENSP00000506251.1:n.9338T=
ENST00000665585.1:c.2208T=
ENST00000666593.1:c.352T= ENSP00000499256.1:n.352T=
ENST00000680887.1:c.9330T= ENSP00000505508.1:p.Asn3110=
ENST00000380152.7:c.9330T= ENSP00000369497.3:p.Asn3110=
ENST00000470094.1:c.287T=
ENST00000544455.5:c.9330T= ENSP00000439902.1:p.Asn3110=
NM_000059.3:c.9330T= , LRG_293t1:c.9330T= NP_000050.2:p.Asn3110=
XM_011535203.1:c.9330T= XP_011533505.1:p.Asn3110=
XM_011535204.1:c.9234T= XP_011533506.1:p.Asn3078=
NM_000059.4:c.9330T= MANE Select NP_000050.3:p.Asn3110=