Canonical Allele Identifier: CA2082816947
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337769_32337775delinsGAAGAGT , CM000675.2:g.32337769_32337775delinsGAAGAGT GRCh38
NC_000013.10:g.32911906_32911912delinsGAAGAGT , CM000675.1:g.32911906_32911912delinsGAAGAGT GRCh37
NC_000013.9:g.31809906_31809912delinsGAAGAGT NCBI36
NG_012772.3:g.27290_27296delinsGAAGAGT , LRG_293:g.27290_27296delinsGAAGAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3414_3420delinsGAAGAGT ENSP00000434898.2:p.Gln1138=
ENST00000528762.2:c.3414_3420delinsGAAGAGT ENSP00000433168.2:p.Gln1138=
ENST00000530893.7:c.3045_3051delinsGAAGAGT ENSP00000499438.2:p.Gln1015=
ENST00000665585.2:c.3414_3420delinsGAAGAGT ENSP00000499570.2:p.Gln1138=
ENST00000666593.2:c.3414_3420delinsGAAGAGT ENSP00000499256.2:p.Gln1138=
ENST00000700202.2:c.3414_3420delinsGAAGAGT ENSP00000514856.2:p.Gln1138=
ENST00000380152.8:c.3414_3420delinsGAAGAGT MANE Select ENSP00000369497.3:p.Gln1138=
ENST00000544455.6:c.3414_3420delinsGAAGAGT ENSP00000439902.1:p.Gln1138=
ENST00000614259.2:c.3414_3420delinsGAAGAGT ENSP00000506251.1:p.Gln1138=
ENST00000680887.1:c.3414_3420delinsGAAGAGT ENSP00000505508.1:p.Gln1138=
ENST00000380152.7:c.3414_3420delinsGAAGAGT ENSP00000369497.3:p.Gln1138=
ENST00000544455.5:c.3414_3420delinsGAAGAGT ENSP00000439902.1:p.Gln1138=
ENST00000614259.1:n.3414_3420delinsGAAGAGT
NM_000059.3:c.3414_3420delinsGAAGAGT , LRG_293t1:c.3414_3420delinsGAAGAGT NP_000050.2:p.Gln1138=
XM_011535203.1:c.3414_3420delinsGAAGAGT XP_011533505.1:p.Gln1138=
XM_011535204.1:c.3414_3420delinsGAAGAGT XP_011533506.1:p.Gln1138=
XM_011535205.1:c.3414_3420delinsGAAGAGT XP_011533507.1:p.Gln1138=
NM_000059.4:c.3414_3420delinsGAAGAGT MANE Select NP_000050.3:p.Gln1138=