Canonical Allele Identifier: CA2082816390
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337712_32337713delinsAG , CM000675.2:g.32337712_32337713delinsAG GRCh38
NC_000013.10:g.32911849_32911850delinsAG , CM000675.1:g.32911849_32911850delinsAG GRCh37
NC_000013.9:g.31809849_31809850delinsAG NCBI36
NG_012772.3:g.27233_27234delinsAG , LRG_293:g.27233_27234delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3357_3358delinsAG ENSP00000434898.2:p.Glu1119=
ENST00000528762.2:c.3357_3358delinsAG ENSP00000433168.2:p.Glu1119=
ENST00000530893.7:c.2988_2989delinsAG ENSP00000499438.2:p.Glu996=
ENST00000665585.2:c.3357_3358delinsAG ENSP00000499570.2:p.Glu1119=
ENST00000666593.2:c.3357_3358delinsAG ENSP00000499256.2:p.Glu1119=
ENST00000700202.2:c.3357_3358delinsAG ENSP00000514856.2:p.Glu1119=
ENST00000380152.8:c.3357_3358delinsAG MANE Select ENSP00000369497.3:p.Glu1119=
ENST00000544455.6:c.3357_3358delinsAG ENSP00000439902.1:p.Glu1119=
ENST00000614259.2:c.3357_3358delinsAG ENSP00000506251.1:p.Glu1119=
ENST00000680887.1:c.3357_3358delinsAG ENSP00000505508.1:p.Glu1119=
ENST00000380152.7:c.3357_3358delinsAG ENSP00000369497.3:p.Glu1119=
ENST00000544455.5:c.3357_3358delinsAG ENSP00000439902.1:p.Glu1119=
ENST00000614259.1:n.3357_3358delinsAG
NM_000059.3:c.3357_3358delinsAG , LRG_293t1:c.3357_3358delinsAG NP_000050.2:p.Glu1119=
XM_011535203.1:c.3357_3358delinsAG XP_011533505.1:p.Glu1119=
XM_011535204.1:c.3357_3358delinsAG XP_011533506.1:p.Glu1119=
XM_011535205.1:c.3357_3358delinsAG XP_011533507.1:p.Glu1119=
NM_000059.4:c.3357_3358delinsAG MANE Select NP_000050.3:p.Glu1119=