Canonical Allele Identifier: CA2082836383
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398506_32398508delinsTTC , CM000675.2:g.32398506_32398508delinsTTC GRCh38
NC_000013.10:g.32972643_32972645delinsTTC , CM000675.1:g.32972643_32972645delinsTTC GRCh37
NC_000013.9:g.31870643_31870645delinsTTC NCBI36
NG_012772.3:g.88027_88029delinsTTC , LRG_293:g.88027_88029delinsTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*516_*518delinsTTC ENSP00000434898.2:n.*516_*518delinsTTC
ENST00000528762.2:c.*1360_*1362delinsTTC ENSP00000433168.2:n.*1360_*1362delinsTTC
ENST00000530893.7:c.9624_9626delinsTTC ENSP00000499438.2:p.Ile3208=
ENST00000665585.2:c.*1555_*1557delinsTTC ENSP00000499570.2:n.*1555_*1557delinsTTC
ENST00000700202.2:c.9942_9944delinsTTC ENSP00000514856.2:p.Ile3314=
ENST00000700202.1:c.2409_2411delinsTTC ENSP00000514856.1:p.Ile803=
ENST00000700203.1:n.2120_2122delinsTTC
ENST00000380152.8:c.9993_9995delinsTTC MANE Select ENSP00000369497.3:p.Ile3331=
ENST00000544455.6:c.9993_9995delinsTTC ENSP00000439902.1:p.Ile3331=
ENST00000614259.2:c.10001_10003delinsTTC ENSP00000506251.1:n.10001_10003delinsTTC
ENST00000680887.1:c.9993_9995delinsTTC ENSP00000505508.1:p.Ile3331=
ENST00000380152.7:c.9993_9995delinsTTC ENSP00000369497.3:p.Ile3331=
ENST00000544455.5:c.9993_9995delinsTTC ENSP00000439902.1:p.Ile3331=
NM_000059.3:c.9993_9995delinsTTC , LRG_293t1:c.9993_9995delinsTTC NP_000050.2:p.Ile3331=
XM_011535203.1:c.9993_9995delinsTTC XP_011533505.1:p.Ile3331=
XM_011535204.1:c.9897_9899delinsTTC XP_011533506.1:p.Ile3299=
NM_000059.4:c.9993_9995delinsTTC MANE Select NP_000050.3:p.Ile3331=