Canonical Allele Identifier: CA2082835159
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398300_32398302delinsAAG , CM000675.2:g.32398300_32398302delinsAAG GRCh38
NC_000013.10:g.32972437_32972439delinsAAG , CM000675.1:g.32972437_32972439delinsAAG GRCh37
NC_000013.9:g.31870437_31870439delinsAAG NCBI36
NG_012772.3:g.87821_87823delinsAAG , LRG_293:g.87821_87823delinsAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*310_*312delinsAAG ENSP00000434898.2:n.*310_*312delinsAAG
ENST00000528762.2:c.*1154_*1156delinsAAG ENSP00000433168.2:n.*1154_*1156delinsAAG
ENST00000530893.7:c.9418_9420delinsAAG ENSP00000499438.2:p.Lys3140=
ENST00000665585.2:c.*1349_*1351delinsAAG ENSP00000499570.2:n.*1349_*1351delinsAAG
ENST00000700202.2:c.9736_9738delinsAAG ENSP00000514856.2:p.Lys3246=
ENST00000700202.1:c.2203_2205delinsAAG ENSP00000514856.1:p.Lys735=
ENST00000700203.1:n.1914_1916delinsAAG
ENST00000380152.8:c.9787_9789delinsAAG MANE Select ENSP00000369497.3:p.Lys3263=
ENST00000544455.6:c.9787_9789delinsAAG ENSP00000439902.1:p.Lys3263=
ENST00000614259.2:c.9795_9797delinsAAG ENSP00000506251.1:n.9795_9797delinsAAG
ENST00000680887.1:c.9787_9789delinsAAG ENSP00000505508.1:p.Lys3263=
ENST00000380152.7:c.9787_9789delinsAAG ENSP00000369497.3:p.Lys3263=
ENST00000533776.1:n.375_377delinsAAG
ENST00000544455.5:c.9787_9789delinsAAG ENSP00000439902.1:p.Lys3263=
NM_000059.3:c.9787_9789delinsAAG , LRG_293t1:c.9787_9789delinsAAG NP_000050.2:p.Lys3263=
XM_011535203.1:c.9787_9789delinsAAG XP_011533505.1:p.Lys3263=
XM_011535204.1:c.9691_9693delinsAAG XP_011533506.1:p.Lys3231=
NM_000059.4:c.9787_9789delinsAAG MANE Select NP_000050.3:p.Lys3263=