Canonical Allele Identifier: CA2082830216
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32377012_32377016delinsTATTA , CM000675.2:g.32377012_32377016delinsTATTA GRCh38
NC_000013.10:g.32951149_32951153delinsTATTA , CM000675.1:g.32951149_32951153delinsTATTA GRCh37
NC_000013.9:g.31849149_31849153delinsTATTA NCBI36
NG_012772.3:g.66533_66537delinsTATTA , LRG_293:g.66533_66537delinsTATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8754+221_8754+225delinsTATTA ENSP00000434898.2:n.8754+221_8754+225delinsTATTA
ENST00000528762.2:c.*121+221_*121+225delinsTATTA ENSP00000433168.2:n.*121+221_*121+225delinsTATTA
ENST00000530893.7:c.8385+221_8385+225delinsTATTA ENSP00000499438.2:n.8385+221_8385+225delinsTATTA
ENST00000665585.2:c.*316+221_*316+225delinsTATTA ENSP00000499570.2:n.*316+221_*316+225delinsTATTA
ENST00000666593.2:c.8754+221_8754+225delinsTATTA ENSP00000499256.2:n.8754+221_8754+225delinsTATTA
ENST00000700202.2:c.8754+221_8754+225delinsTATTA ENSP00000514856.2:n.8754+221_8754+225delinsTATTA
ENST00000700202.1:c.1221+221_1221+225delinsTATTA ENSP00000514856.1:n.1221+221_1221+225delinsTATTA
ENST00000700203.1:n.881+221_881+225delinsTATTA
ENST00000380152.8:c.8754+221_8754+225delinsTATTA MANE Select ENSP00000369497.3:n.8754+221_8754+225delinsTATTA
ENST00000544455.6:c.8754+221_8754+225delinsTATTA ENSP00000439902.1:n.8754+221_8754+225delinsTATTA
ENST00000614259.2:c.8762+221_8762+225delinsTATTA ENSP00000506251.1:n.8762+221_8762+225delinsTATTA
ENST00000665585.1:c.1632+221_1632+225delinsTATTA
ENST00000680887.1:c.8754+221_8754+225delinsTATTA ENSP00000505508.1:n.8754+221_8754+225delinsTATTA
ENST00000380152.7:c.8754+221_8754+225delinsTATTA ENSP00000369497.3:n.8754+221_8754+225delinsTATTA
ENST00000528762.1:c.316+221_316+225delinsTATTA ENSP00000433168.1:n.316+221_316+225delinsTATTA
ENST00000544455.5:c.8754+221_8754+225delinsTATTA ENSP00000439902.1:n.8754+221_8754+225delinsTATTA
NM_000059.3:c.8754+221_8754+225delinsTATTA , LRG_293t1:c.8754+221_8754+225delinsTATTA NP_000050.2:n.8754+221_8754+225delinsTATTA
XM_011535203.1:c.8754+221_8754+225delinsTATTA XP_011533505.1:n.8754+221_8754+225delinsTATTA
XM_011535204.1:c.8658+221_8658+225delinsTATTA XP_011533506.1:n.8658+221_8658+225delinsTATTA
XM_011535205.1:c.8754+221_8754+225delinsTATTA XP_011533507.1:n.8754+221_8754+225delinsTATTA
NM_000059.4:c.8754+221_8754+225delinsTATTA MANE Select NP_000050.3:n.8754+221_8754+225delinsTATTA