Canonical Allele Identifier: CA2082836208
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398468_32398471delinsTCTC , CM000675.2:g.32398468_32398471delinsTCTC GRCh38
NC_000013.10:g.32972605_32972608delinsTCTC , CM000675.1:g.32972605_32972608delinsTCTC GRCh37
NC_000013.9:g.31870605_31870608delinsTCTC NCBI36
NG_012772.3:g.87989_87992delinsTCTC , LRG_293:g.87989_87992delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*478_*481delinsTCTC ENSP00000434898.2:n.*478_*481delinsTCTC
ENST00000528762.2:c.*1322_*1325delinsTCTC ENSP00000433168.2:n.*1322_*1325delinsTCTC
ENST00000530893.7:c.9586_9589delinsTCTC ENSP00000499438.2:p.Ser3196=
ENST00000665585.2:c.*1517_*1520delinsTCTC ENSP00000499570.2:n.*1517_*1520delinsTCTC
ENST00000700202.2:c.9904_9907delinsTCTC ENSP00000514856.2:p.Ser3302=
ENST00000700202.1:c.2371_2374delinsTCTC ENSP00000514856.1:p.Ser791=
ENST00000700203.1:n.2082_2085delinsTCTC
ENST00000380152.8:c.9955_9958delinsTCTC MANE Select ENSP00000369497.3:p.Ser3319=
ENST00000544455.6:c.9955_9958delinsTCTC ENSP00000439902.1:p.Ser3319=
ENST00000614259.2:c.9963_9966delinsTCTC ENSP00000506251.1:n.9963_9966delinsTCTC
ENST00000680887.1:c.9955_9958delinsTCTC ENSP00000505508.1:p.Ser3319=
ENST00000380152.7:c.9955_9958delinsTCTC ENSP00000369497.3:p.Ser3319=
ENST00000544455.5:c.9955_9958delinsTCTC ENSP00000439902.1:p.Ser3319=
NM_000059.3:c.9955_9958delinsTCTC , LRG_293t1:c.9955_9958delinsTCTC NP_000050.2:p.Ser3319=
XM_011535203.1:c.9955_9958delinsTCTC XP_011533505.1:p.Ser3319=
XM_011535204.1:c.9859_9862delinsTCTC XP_011533506.1:p.Ser3287=
NM_000059.4:c.9955_9958delinsTCTC MANE Select NP_000050.3:p.Ser3319=