Canonical Allele Identifier: CA2798720238
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315529_32315530insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA , CM000675.2:g.32315529_32315530insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA GRCh38
NC_000013.10:g.32889666_32889667insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA , CM000675.1:g.32889666_32889667insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA GRCh37
NC_000013.9:g.31787666_31787667insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA NCBI36
NG_012772.3:g.5050_5051insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA , LRG_293:g.5050_5051insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA
NG_017006.1:g.1425_1426insTTGCATATTTCTAGTTTGATTGCTTGCTTTTTTAAAAAATTAACTTGTTCCTTTTTTCTCCTACTTGTAACTCTAAG
NG_017006.2:g.4834_4835insTTGCATATTTCTAGTTTGATTGCTTGCTTTTTTAAAAAATTAACTTGTTCCTTTTTTCTCCTACTTGTAACTCTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000434898.2:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000528762.2:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000433168.2:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000530893.7:c.-543_-542insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000499438.2:n.-543_-542insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000665585.2:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000499570.2:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000666593.2:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000499256.2:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000700202.2:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000514856.2:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000380152.8:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA MANE Select ENSP00000369497.3:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000544455.6:c.-40+384_-40+385insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000439902.1:n.-40+384_-40+385insCTTAGAGTTACAAGTAGGAGAAA...
ENST00000380152.7:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000369497.3:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
ENST00000530893.6:n.25_26insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA
ENST00000544455.5:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA ENSP00000439902.1:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGA...
NM_000059.3:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA , LRG_293t1:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA NP_000050.2:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGT...
XM_011535203.1:c.-40+384_-40+385insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA XP_011533505.1:n.-40+384_-40+385insCTTAGAGTTACAAGTAGGAGAAAAAA...
XM_011535204.1:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA XP_011533506.1:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACA...
XM_011535205.1:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA XP_011533507.1:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACA...
NM_000059.4:c.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGTTAATTTTTTAAAAAAGCAAGCAATCAAACTAGAAATATGCAA MANE Select NP_000050.3:n.-178_-177insCTTAGAGTTACAAGTAGGAGAAAAAAGGAACAAGT...