Canonical Allele Identifier: CA2082814303
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370539_32370541delinsAAG , CM000675.2:g.32370539_32370541delinsAAG GRCh38
NC_000013.10:g.32944676_32944678delinsAAG , CM000675.1:g.32944676_32944678delinsAAG GRCh37
NC_000013.9:g.31842676_31842678delinsAAG NCBI36
NG_012772.3:g.60060_60062delinsAAG , LRG_293:g.60060_60062delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8469_8471delinsAAG ENSP00000434898.2:p.Gln2823=
ENST00000528762.2:c.8469_8471delinsAAG ENSP00000433168.2:p.Gln2823=
ENST00000530893.7:c.8100_8102delinsAAG ENSP00000499438.2:p.Gln2700=
ENST00000665585.2:c.8469_8471delinsAAG ENSP00000499570.2:p.Gln2823=
ENST00000666593.2:c.8469_8471delinsAAG ENSP00000499256.2:p.Gln2823=
ENST00000700202.2:c.8469_8471delinsAAG ENSP00000514856.2:p.Gln2823=
ENST00000700202.1:c.936_938delinsAAG ENSP00000514856.1:p.Gln312=
ENST00000380152.8:c.8469_8471delinsAAG MANE Select ENSP00000369497.3:p.Gln2823=
ENST00000544455.6:c.8469_8471delinsAAG ENSP00000439902.1:p.Gln2823=
ENST00000614259.2:c.8477_8479delinsAAG ENSP00000506251.1:n.8477_8479delinsAAG
ENST00000665585.1:c.1034_1036delinsAAG
ENST00000680887.1:c.8469_8471delinsAAG ENSP00000505508.1:p.Gln2823=
ENST00000380152.7:c.8469_8471delinsAAG ENSP00000369497.3:p.Gln2823=
ENST00000544455.5:c.8469_8471delinsAAG ENSP00000439902.1:p.Gln2823=
NM_000059.3:c.8469_8471delinsAAG , LRG_293t1:c.8469_8471delinsAAG NP_000050.2:p.Gln2823=
XM_011535203.1:c.8469_8471delinsAAG XP_011533505.1:p.Gln2823=
XM_011535204.1:c.8373_8375delinsAAG XP_011533506.1:p.Gln2791=
XM_011535205.1:c.8469_8471delinsAAG XP_011533507.1:p.Gln2823=
NM_000059.4:c.8469_8471delinsAAG MANE Select NP_000050.3:p.Gln2823=