Canonical Allele Identifier: CA10589543
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379856dup , CM000675.2:g.32379856dup GRCh38
NC_000013.10:g.32953993dup , CM000675.1:g.32953993dup GRCh37
NC_000013.9:g.31851993dup NCBI36
NG_012772.3:g.69377dup , LRG_293:g.69377dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9060dup ENSP00000434898.2:p.Glu3021Ter
ENST00000528762.2:c.*427dup ENSP00000433168.2:n.*427dup
ENST00000530893.7:c.8691dup ENSP00000499438.2:p.Glu2898Ter
ENST00000665585.2:c.*622dup ENSP00000499570.2:n.*622dup
ENST00000666593.2:c.9060dup ENSP00000499256.2:p.Glu3021Ter
ENST00000700202.2:c.9009dup ENSP00000514856.2:p.Glu3004Ter
ENST00000700202.1:c.1476dup ENSP00000514856.1:p.Glu493Ter
ENST00000700203.1:n.1187dup
ENST00000380152.8:c.9060dup MANE Select ENSP00000369497.3:p.Glu3021Ter
ENST00000544455.6:c.9060dup ENSP00000439902.1:p.Glu3021Ter
ENST00000614259.2:c.9068dup ENSP00000506251.1:n.9068dup
ENST00000665585.1:c.1938dup
ENST00000680887.1:c.9060dup ENSP00000505508.1:p.Glu3021Ter
ENST00000380152.7:c.9060dup ENSP00000369497.3:p.Glu3021Ter
ENST00000470094.1:c.17dup
ENST00000544455.5:c.9060dup ENSP00000439902.1:p.Glu3021Ter
NM_000059.3:c.9060dup , LRG_293t1:c.9060dup NP_000050.2:p.Glu3021Ter
XM_011535203.1:c.9060dup XP_011533505.1:p.Glu3021Ter
XM_011535204.1:c.8964dup XP_011533506.1:p.Glu2989Ter
NM_000059.4:c.9060dup MANE Select NP_000050.3:p.Glu3021Ter