Canonical Allele Identifier: CA3261215883
Community Standard Title: NM_000059.4(BRCA2):c.8798_8799delinsAA (p.Arg2933Lys)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379360_32379361delinsAA , CM000675.2:g.32379360_32379361delinsAA GRCh38
NC_000013.10:g.32953497_32953498delinsAA , CM000675.1:g.32953497_32953498delinsAA GRCh37
NC_000013.9:g.31851497_31851498delinsAA NCBI36
NG_012772.3:g.68881_68882delinsAA , LRG_293:g.68881_68882delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8798_8799delinsAA MANE Select NP_000050.3:p.Arg2933Lys
ENST00000380152.8:c.8798_8799delinsAA MANE Select ENSP00000369497.3:p.Arg2933Lys
NM_000059.3:c.8798_8799delinsAA , LRG_293t1:c.8798_8799delinsAA NP_000050.2:p.Arg2933Lys
ENST00000380152.7:c.8798_8799delinsAA ENSP00000369497.3:p.Arg2933Lys
ENST00000470094.2:c.8798_8799delinsAA ENSP00000434898.2:p.Arg2933Lys
ENST00000528762.1:c.360_361delinsAA ENSP00000433168.1:n.360_361delinsAA
ENST00000528762.2:c.*165_*166delinsAA ENSP00000433168.2:n.*165_*166delinsAA
ENST00000530893.7:c.8429_8430delinsAA ENSP00000499438.2:p.Arg2810Lys
ENST00000544455.5:c.8798_8799delinsAA ENSP00000439902.1:p.Arg2933Lys
ENST00000544455.6:c.8798_8799delinsAA ENSP00000439902.1:p.Arg2933Lys
ENST00000614259.2:c.8806_8807delinsAA ENSP00000506251.1:n.8806_8807delinsAA
ENST00000665585.1:c.1676_1677delinsAA
ENST00000665585.2:c.*360_*361delinsAA ENSP00000499570.2:n.*360_*361delinsAA
ENST00000666593.2:c.8798_8799delinsAA ENSP00000499256.2:p.Arg2933Lys
ENST00000680887.1:c.8798_8799delinsAA ENSP00000505508.1:p.Arg2933Lys
ENST00000700202.1:c.1265_1266delinsAA ENSP00000514856.1:p.Arg422Lys
ENST00000700202.2:c.8798_8799delinsAA ENSP00000514856.2:p.Arg2933Lys
ENST00000700203.1:n.925_926delinsAA
XM_011535203.1:c.8798_8799delinsAA XP_011533505.1:p.Arg2933Lys
XM_011535204.1:c.8702_8703delinsAA XP_011533506.1:p.Arg2901Lys
XM_011535205.1:c.8755-390_8755-389delinsAA XP_011533507.1:n.8755-390_8755-389delinsAA