Canonical Allele Identifier: CA2082836342
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379472G= , CM000675.2:g.32379472G= GRCh38
NC_000013.10:g.32953609G= , CM000675.1:g.32953609G= GRCh37
NC_000013.9:g.31851609G= NCBI36
NG_012772.3:g.68993G= , LRG_293:g.68993G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8910G= ENSP00000434898.2:p.Trp2970=
ENST00000528762.2:c.*277G= ENSP00000433168.2:n.*277G=
ENST00000530893.7:c.8541G= ENSP00000499438.2:p.Trp2847=
ENST00000665585.2:c.*472G= ENSP00000499570.2:n.*472G=
ENST00000666593.2:c.8910G= ENSP00000499256.2:p.Trp2970=
ENST00000700202.2:c.8910G= ENSP00000514856.2:p.Trp2970=
ENST00000700202.1:c.1377G= ENSP00000514856.1:p.Trp459=
ENST00000700203.1:n.1037G=
ENST00000380152.8:c.8910G= MANE Select ENSP00000369497.3:p.Trp2970=
ENST00000544455.6:c.8910G= ENSP00000439902.1:p.Trp2970=
ENST00000614259.2:c.8918G= ENSP00000506251.1:n.8918G=
ENST00000665585.1:c.1788G=
ENST00000680887.1:c.8910G= ENSP00000505508.1:p.Trp2970=
ENST00000380152.7:c.8910G= ENSP00000369497.3:p.Trp2970=
ENST00000528762.1:c.472G= ENSP00000433168.1:n.472G=
ENST00000544455.5:c.8910G= ENSP00000439902.1:p.Trp2970=
NM_000059.3:c.8910G= , LRG_293t1:c.8910G= NP_000050.2:p.Trp2970=
XM_011535203.1:c.8910G= XP_011533505.1:p.Trp2970=
XM_011535204.1:c.8814G= XP_011533506.1:p.Trp2938=
XM_011535205.1:c.8755-278G= XP_011533507.1:n.8755-278G=
NM_000059.4:c.8910G= MANE Select NP_000050.3:p.Trp2970=