Canonical Allele Identifier: CA2082815681
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371010_32371011delinsGA , CM000675.2:g.32371010_32371011delinsGA GRCh38
NC_000013.10:g.32945147_32945148delinsGA , CM000675.1:g.32945147_32945148delinsGA GRCh37
NC_000013.9:g.31843147_31843148delinsGA NCBI36
NG_012772.3:g.60531_60532delinsGA , LRG_293:g.60531_60532delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8542_8543delinsGA ENSP00000434898.2:p.Glu2848=
ENST00000528762.2:c.8542_8543delinsGA ENSP00000433168.2:p.Glu2848=
ENST00000530893.7:c.8173_8174delinsGA ENSP00000499438.2:p.Glu2725=
ENST00000665585.2:c.8542_8543delinsGA ENSP00000499570.2:p.Glu2848=
ENST00000666593.2:c.8542_8543delinsGA ENSP00000499256.2:p.Glu2848=
ENST00000700202.2:c.8542_8543delinsGA ENSP00000514856.2:p.Glu2848=
ENST00000700202.1:c.1009_1010delinsGA ENSP00000514856.1:p.Glu337=
ENST00000380152.8:c.8542_8543delinsGA MANE Select ENSP00000369497.3:p.Glu2848=
ENST00000544455.6:c.8542_8543delinsGA ENSP00000439902.1:p.Glu2848=
ENST00000614259.2:c.8550_8551delinsGA ENSP00000506251.1:n.8550_8551delinsGA
ENST00000665585.1:c.1107_1108delinsGA
ENST00000680887.1:c.8542_8543delinsGA ENSP00000505508.1:p.Glu2848=
ENST00000380152.7:c.8542_8543delinsGA ENSP00000369497.3:p.Glu2848=
ENST00000528762.1:c.40_41delinsGA ENSP00000433168.1:p.Glu14=
ENST00000544455.5:c.8542_8543delinsGA ENSP00000439902.1:p.Glu2848=
NM_000059.3:c.8542_8543delinsGA , LRG_293t1:c.8542_8543delinsGA NP_000050.2:p.Glu2848=
XM_011535203.1:c.8542_8543delinsGA XP_011533505.1:p.Glu2848=
XM_011535204.1:c.8446_8447delinsGA XP_011533506.1:p.Glu2816=
XM_011535205.1:c.8542_8543delinsGA XP_011533507.1:p.Glu2848=
NM_000059.4:c.8542_8543delinsGA MANE Select NP_000050.3:p.Glu2848=