Canonical Allele Identifier: CA2082841032
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380120_32380123delinsTGTC , CM000675.2:g.32380120_32380123delinsTGTC GRCh38
NC_000013.10:g.32954257_32954260delinsTGTC , CM000675.1:g.32954257_32954260delinsTGTC GRCh37
NC_000013.9:g.31852257_31852260delinsTGTC NCBI36
NG_012772.3:g.69641_69644delinsTGTC , LRG_293:g.69641_69644delinsTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9231_9234delinsTGTC ENSP00000434898.2:p.Phe3077=
ENST00000528762.2:c.*598_*601delinsTGTC ENSP00000433168.2:n.*598_*601delinsTGTC
ENST00000530893.7:c.8862_8865delinsTGTC ENSP00000499438.2:p.Phe2954=
ENST00000665585.2:c.*793_*796delinsTGTC ENSP00000499570.2:n.*793_*796delinsTGTC
ENST00000666593.2:c.9231_9234delinsTGTC ENSP00000499256.2:p.Phe3077=
ENST00000700202.2:c.9180_9183delinsTGTC ENSP00000514856.2:p.Phe3060=
ENST00000700202.1:c.1647_1650delinsTGTC ENSP00000514856.1:p.Phe549=
ENST00000700203.1:n.1358_1361delinsTGTC
ENST00000380152.8:c.9231_9234delinsTGTC MANE Select ENSP00000369497.3:p.Phe3077=
ENST00000544455.6:c.9231_9234delinsTGTC ENSP00000439902.1:p.Phe3077=
ENST00000614259.2:c.9239_9242delinsTGTC ENSP00000506251.1:n.9239_9242delinsTGTC
ENST00000665585.1:c.2109_2112delinsTGTC
ENST00000666593.1:c.114_117delinsTGTC ENSP00000499256.1:p.Phe38=
ENST00000680887.1:c.9231_9234delinsTGTC ENSP00000505508.1:p.Phe3077=
ENST00000380152.7:c.9231_9234delinsTGTC ENSP00000369497.3:p.Phe3077=
ENST00000470094.1:c.188_191delinsTGTC
ENST00000544455.5:c.9231_9234delinsTGTC ENSP00000439902.1:p.Phe3077=
NM_000059.3:c.9231_9234delinsTGTC , LRG_293t1:c.9231_9234delinsTGTC NP_000050.2:p.Phe3077=
XM_011535203.1:c.9231_9234delinsTGTC XP_011533505.1:p.Phe3077=
XM_011535204.1:c.9135_9138delinsTGTC XP_011533506.1:p.Phe3045=
NM_000059.4:c.9231_9234delinsTGTC MANE Select NP_000050.3:p.Phe3077=