Canonical Allele Identifier: CA3261216001
Community Standard Title: NM_000059.4(BRCA2):c.8032_8034delinsGGA (p.Arg2678Gly)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363234_32363236delinsGGA , CM000675.2:g.32363234_32363236delinsGGA GRCh38
NC_000013.10:g.32937371_32937373delinsGGA , CM000675.1:g.32937371_32937373delinsGGA GRCh37
NC_000013.9:g.31835371_31835373delinsGGA NCBI36
NG_012772.3:g.52755_52757delinsGGA , LRG_293:g.52755_52757delinsGGA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8032_8034delinsGGA MANE Select NP_000050.3:p.Arg2678Gly
ENST00000380152.8:c.8032_8034delinsGGA MANE Select ENSP00000369497.3:p.Arg2678Gly
NM_000059.3:c.8032_8034delinsGGA , LRG_293t1:c.8032_8034delinsGGA NP_000050.2:p.Arg2678Gly
ENST00000380152.7:c.8032_8034delinsGGA ENSP00000369497.3:p.Arg2678Gly
ENST00000470094.2:c.8032_8034delinsGGA ENSP00000434898.2:p.Arg2678Gly
ENST00000528762.2:c.8032_8034delinsGGA ENSP00000433168.2:p.Arg2678Gly
ENST00000530893.7:c.7663_7665delinsGGA ENSP00000499438.2:p.Arg2555Gly
ENST00000544455.5:c.8032_8034delinsGGA ENSP00000439902.1:p.Arg2678Gly
ENST00000544455.6:c.8032_8034delinsGGA ENSP00000439902.1:p.Arg2678Gly
ENST00000614259.2:c.8040_8042delinsGGA ENSP00000506251.1:n.8040_8042delinsGGA
ENST00000665585.1:c.597_599delinsGGA
ENST00000665585.2:c.8032_8034delinsGGA ENSP00000499570.2:p.Arg2678Gly
ENST00000666593.2:c.8032_8034delinsGGA ENSP00000499256.2:p.Arg2678Gly
ENST00000680887.1:c.8032_8034delinsGGA ENSP00000505508.1:p.Arg2678Gly
ENST00000700202.1:c.499_501delinsGGA ENSP00000514856.1:p.Arg167Gly
ENST00000700202.2:c.8032_8034delinsGGA ENSP00000514856.2:p.Arg2678Gly
XM_011535203.1:c.8032_8034delinsGGA XP_011533505.1:p.Arg2678Gly
XM_011535204.1:c.7936_7938delinsGGA XP_011533506.1:p.Arg2646Gly
XM_011535205.1:c.8032_8034delinsGGA XP_011533507.1:p.Arg2678Gly