Canonical Allele Identifier: CA2082836811
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398567_32398568delinsCT , CM000675.2:g.32398567_32398568delinsCT GRCh38
NC_000013.10:g.32972704_32972705delinsCT , CM000675.1:g.32972704_32972705delinsCT GRCh37
NC_000013.9:g.31870704_31870705delinsCT NCBI36
NG_012772.3:g.88088_88089delinsCT , LRG_293:g.88088_88089delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*577_*578delinsCT ENSP00000434898.2:n.*577_*578delinsCT
ENST00000528762.2:c.*1421_*1422delinsCT ENSP00000433168.2:n.*1421_*1422delinsCT
ENST00000530893.7:c.9685_9686delinsCT ENSP00000499438.2:p.Leu3229=
ENST00000665585.2:c.*1616_*1617delinsCT ENSP00000499570.2:n.*1616_*1617delinsCT
ENST00000700202.2:c.10003_10004delinsCT ENSP00000514856.2:p.Leu3335=
ENST00000700202.1:c.2470_2471delinsCT ENSP00000514856.1:p.Leu824=
ENST00000700203.1:n.2181_2182delinsCT
ENST00000380152.8:c.10054_10055delinsCT MANE Select ENSP00000369497.3:p.Leu3352=
ENST00000544455.6:c.10054_10055delinsCT ENSP00000439902.1:p.Leu3352=
ENST00000614259.2:c.10062_10063delinsCT ENSP00000506251.1:n.10062_10063delinsCT
ENST00000680887.1:c.10054_10055delinsCT ENSP00000505508.1:p.Leu3352=
ENST00000380152.7:c.10054_10055delinsCT ENSP00000369497.3:p.Leu3352=
ENST00000544455.5:c.10054_10055delinsCT ENSP00000439902.1:p.Leu3352=
NM_000059.3:c.10054_10055delinsCT , LRG_293t1:c.10054_10055delinsCT NP_000050.2:p.Leu3352=
XM_011535203.1:c.10054_10055delinsCT XP_011533505.1:p.Leu3352=
XM_011535204.1:c.9958_9959delinsCT XP_011533506.1:p.Leu3320=
NM_000059.4:c.10054_10055delinsCT MANE Select NP_000050.3:p.Leu3352=