Canonical Allele Identifier: CA2082836266
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379463_32379475delinsAACCGTGTGGAAG , CM000675.2:g.32379463_32379475delinsAACCGTGTGGAAG GRCh38
NC_000013.10:g.32953600_32953612delinsAACCGTGTGGAAG , CM000675.1:g.32953600_32953612delinsAACCGTGTGGAAG GRCh37
NC_000013.9:g.31851600_31851612delinsAACCGTGTGGAAG NCBI36
NG_012772.3:g.68984_68996delinsAACCGTGTGGAAG , LRG_293:g.68984_68996delinsAACCGTGTGGAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8901_8913delinsAACCGTGTGGAAG ENSP00000434898.2:p.Thr2967=
ENST00000528762.2:c.*268_*280delinsAACCGTGTGGAAG ENSP00000433168.2:n.*268_*280delinsAACCGTGTGGAAG
ENST00000530893.7:c.8532_8544delinsAACCGTGTGGAAG ENSP00000499438.2:p.Thr2844=
ENST00000665585.2:c.*463_*475delinsAACCGTGTGGAAG ENSP00000499570.2:n.*463_*475delinsAACCGTGTGGAAG
ENST00000666593.2:c.8901_8913delinsAACCGTGTGGAAG ENSP00000499256.2:p.Thr2967=
ENST00000700202.2:c.8901_8913delinsAACCGTGTGGAAG ENSP00000514856.2:p.Thr2967=
ENST00000700202.1:c.1368_1380delinsAACCGTGTGGAAG ENSP00000514856.1:p.Thr456=
ENST00000700203.1:n.1028_1040delinsAACCGTGTGGAAG
ENST00000380152.8:c.8901_8913delinsAACCGTGTGGAAG MANE Select ENSP00000369497.3:p.Thr2967=
ENST00000544455.6:c.8901_8913delinsAACCGTGTGGAAG ENSP00000439902.1:p.Thr2967=
ENST00000614259.2:c.8909_8921delinsAACCGTGTGGAAG ENSP00000506251.1:n.8909_8921delinsAACCGTGTGGAAG
ENST00000665585.1:c.1779_1791delinsAACCGTGTGGAAG
ENST00000680887.1:c.8901_8913delinsAACCGTGTGGAAG ENSP00000505508.1:p.Thr2967=
ENST00000380152.7:c.8901_8913delinsAACCGTGTGGAAG ENSP00000369497.3:p.Thr2967=
ENST00000528762.1:c.463_475delinsAACCGTGTGGAAG ENSP00000433168.1:n.463_475delinsAACCGTGTGGAAG
ENST00000544455.5:c.8901_8913delinsAACCGTGTGGAAG ENSP00000439902.1:p.Thr2967=
NM_000059.3:c.8901_8913delinsAACCGTGTGGAAG , LRG_293t1:c.8901_8913delinsAACCGTGTGGAAG NP_000050.2:p.Thr2967=
XM_011535203.1:c.8901_8913delinsAACCGTGTGGAAG XP_011533505.1:p.Thr2967=
XM_011535204.1:c.8805_8817delinsAACCGTGTGGAAG XP_011533506.1:p.Thr2935=
XM_011535205.1:c.8755-287_8755-275delinsAACCGTGTGGAAG XP_011533507.1:n.8755-287_8755-275delinsAACCGTGTGGAAG
NM_000059.4:c.8901_8913delinsAACCGTGTGGAAG MANE Select NP_000050.3:p.Thr2967=