Canonical Allele Identifier: CA2082834135
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398199_32398200delinsCT , CM000675.2:g.32398199_32398200delinsCT GRCh38
NC_000013.10:g.32972336_32972337delinsCT , CM000675.1:g.32972336_32972337delinsCT GRCh37
NC_000013.9:g.31870336_31870337delinsCT NCBI36
NG_012772.3:g.87720_87721delinsCT , LRG_293:g.87720_87721delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.*209_*210delinsCT ENSP00000434898.2:n.*209_*210delinsCT
ENST00000528762.2:c.*1053_*1054delinsCT ENSP00000433168.2:n.*1053_*1054delinsCT
ENST00000530893.7:c.9317_9318delinsCT ENSP00000499438.2:p.Pro3106=
ENST00000665585.2:c.*1248_*1249delinsCT ENSP00000499570.2:n.*1248_*1249delinsCT
ENST00000700202.2:c.9635_9636delinsCT ENSP00000514856.2:p.Pro3212=
ENST00000700202.1:c.2102_2103delinsCT ENSP00000514856.1:p.Pro701=
ENST00000700203.1:n.1813_1814delinsCT
ENST00000380152.8:c.9686_9687delinsCT MANE Select ENSP00000369497.3:p.Pro3229=
ENST00000544455.6:c.9686_9687delinsCT ENSP00000439902.1:p.Pro3229=
ENST00000614259.2:c.9694_9695delinsCT ENSP00000506251.1:n.9694_9695delinsCT
ENST00000665585.1:c.2564_2565delinsCT
ENST00000680887.1:c.9686_9687delinsCT ENSP00000505508.1:p.Pro3229=
ENST00000380152.7:c.9686_9687delinsCT ENSP00000369497.3:p.Pro3229=
ENST00000470094.1:c.769_770delinsCT
ENST00000533776.1:n.274_275delinsCT
ENST00000544455.5:c.9686_9687delinsCT ENSP00000439902.1:p.Pro3229=
NM_000059.3:c.9686_9687delinsCT , LRG_293t1:c.9686_9687delinsCT NP_000050.2:p.Pro3229=
XM_011535203.1:c.9686_9687delinsCT XP_011533505.1:p.Pro3229=
XM_011535204.1:c.9590_9591delinsCT XP_011533506.1:p.Pro3197=
NM_000059.4:c.9686_9687delinsCT MANE Select NP_000050.3:p.Pro3229=