Canonical Allele Identifier: CA2082822130
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394708_32394719delinsTTTGTCAGACGA , CM000675.2:g.32394708_32394719delinsTTTGTCAGACGA GRCh38
NC_000013.10:g.32968845_32968856delinsTTTGTCAGACGA , CM000675.1:g.32968845_32968856delinsTTTGTCAGACGA GRCh37
NC_000013.9:g.31866845_31866856delinsTTTGTCAGACGA NCBI36
NG_012772.3:g.84229_84240delinsTTTGTCAGACGA , LRG_293:g.84229_84240delinsTTTGTCAGACGA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9276_9287delinsTTTGTCAGACGA ENSP00000434898.2:p.Tyr3092=
ENST00000528762.2:c.*643_*654delinsTTTGTCAGACGA ENSP00000433168.2:n.*643_*654delinsTTTGTCAGACGA
ENST00000530893.7:c.8907_8918delinsTTTGTCAGACGA ENSP00000499438.2:p.Tyr2969=
ENST00000665585.2:c.*838_*849delinsTTTGTCAGACGA ENSP00000499570.2:n.*838_*849delinsTTTGTCAGACGA
ENST00000666593.2:c.*121_*132delinsTTTGTCAGACGA ENSP00000499256.2:n.*121_*132delinsTTTGTCAGACGA
ENST00000700202.2:c.9225_9236delinsTTTGTCAGACGA ENSP00000514856.2:p.Tyr3075=
ENST00000700202.1:c.1692_1703delinsTTTGTCAGACGA ENSP00000514856.1:p.Tyr564=
ENST00000700203.1:n.1403_1414delinsTTTGTCAGACGA
ENST00000380152.8:c.9276_9287delinsTTTGTCAGACGA MANE Select ENSP00000369497.3:p.Tyr3092=
ENST00000544455.6:c.9276_9287delinsTTTGTCAGACGA ENSP00000439902.1:p.Tyr3092=
ENST00000614259.2:c.9284_9295delinsTTTGTCAGACGA ENSP00000506251.1:n.9284_9295delinsTTTGTCAGACGA
ENST00000665585.1:c.2154_2165delinsTTTGTCAGACGA
ENST00000666593.1:c.298_309delinsTTTGTCAGACGA ENSP00000499256.1:n.298_309delinsTTTGTCAGACGA
ENST00000680887.1:c.9276_9287delinsTTTGTCAGACGA ENSP00000505508.1:p.Tyr3092=
ENST00000380152.7:c.9276_9287delinsTTTGTCAGACGA ENSP00000369497.3:p.Tyr3092=
ENST00000470094.1:c.233_244delinsTTTGTCAGACGA
ENST00000544455.5:c.9276_9287delinsTTTGTCAGACGA ENSP00000439902.1:p.Tyr3092=
NM_000059.3:c.9276_9287delinsTTTGTCAGACGA , LRG_293t1:c.9276_9287delinsTTTGTCAGACGA NP_000050.2:p.Tyr3092=
XM_011535203.1:c.9276_9287delinsTTTGTCAGACGA XP_011533505.1:p.Tyr3092=
XM_011535204.1:c.9180_9191delinsTTTGTCAGACGA XP_011533506.1:p.Tyr3060=
NM_000059.4:c.9276_9287delinsTTTGTCAGACGA MANE Select NP_000050.3:p.Tyr3092=