Canonical Allele Identifier: CA2082835300
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398320_32398321delinsAG , CM000675.2:g.32398320_32398321delinsAG GRCh38
NC_000013.10:g.32972457_32972458delinsAG , CM000675.1:g.32972457_32972458delinsAG GRCh37
NC_000013.9:g.31870457_31870458delinsAG NCBI36
NG_012772.3:g.87841_87842delinsAG , LRG_293:g.87841_87842delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*330_*331delinsAG ENSP00000434898.2:n.*330_*331delinsAG
ENST00000528762.2:c.*1174_*1175delinsAG ENSP00000433168.2:n.*1174_*1175delinsAG
ENST00000530893.7:c.9438_9439delinsAG ENSP00000499438.2:p.Arg3146=
ENST00000665585.2:c.*1369_*1370delinsAG ENSP00000499570.2:n.*1369_*1370delinsAG
ENST00000700202.2:c.9756_9757delinsAG ENSP00000514856.2:p.Arg3252=
ENST00000700202.1:c.2223_2224delinsAG ENSP00000514856.1:p.Arg741=
ENST00000700203.1:n.1934_1935delinsAG
ENST00000380152.8:c.9807_9808delinsAG MANE Select ENSP00000369497.3:p.Arg3269=
ENST00000544455.6:c.9807_9808delinsAG ENSP00000439902.1:p.Arg3269=
ENST00000614259.2:c.9815_9816delinsAG ENSP00000506251.1:n.9815_9816delinsAG
ENST00000680887.1:c.9807_9808delinsAG ENSP00000505508.1:p.Arg3269=
ENST00000380152.7:c.9807_9808delinsAG ENSP00000369497.3:p.Arg3269=
ENST00000533776.1:n.395_396delinsAG
ENST00000544455.5:c.9807_9808delinsAG ENSP00000439902.1:p.Arg3269=
NM_000059.3:c.9807_9808delinsAG , LRG_293t1:c.9807_9808delinsAG NP_000050.2:p.Arg3269=
XM_011535203.1:c.9807_9808delinsAG XP_011533505.1:p.Arg3269=
XM_011535204.1:c.9711_9712delinsAG XP_011533506.1:p.Arg3237=
NM_000059.4:c.9807_9808delinsAG MANE Select NP_000050.3:p.Arg3269=