Canonical Allele Identifier: CA2082833877
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398168_32398171delinsTCTC , CM000675.2:g.32398168_32398171delinsTCTC GRCh38
NC_000013.10:g.32972305_32972308delinsTCTC , CM000675.1:g.32972305_32972308delinsTCTC GRCh37
NC_000013.9:g.31870305_31870308delinsTCTC NCBI36
NG_012772.3:g.87689_87692delinsTCTC , LRG_293:g.87689_87692delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*178_*181delinsTCTC ENSP00000434898.2:n.*178_*181delinsTCTC
ENST00000528762.2:c.*1022_*1025delinsTCTC ENSP00000433168.2:n.*1022_*1025delinsTCTC
ENST00000530893.7:c.9286_9289delinsTCTC ENSP00000499438.2:p.Ser3096=
ENST00000665585.2:c.*1217_*1220delinsTCTC ENSP00000499570.2:n.*1217_*1220delinsTCTC
ENST00000700202.2:c.9604_9607delinsTCTC ENSP00000514856.2:p.Ser3202=
ENST00000700202.1:c.2071_2074delinsTCTC ENSP00000514856.1:p.Ser691=
ENST00000700203.1:n.1782_1785delinsTCTC
ENST00000380152.8:c.9655_9658delinsTCTC MANE Select ENSP00000369497.3:p.Ser3219=
ENST00000544455.6:c.9655_9658delinsTCTC ENSP00000439902.1:p.Ser3219=
ENST00000614259.2:c.9663_9666delinsTCTC ENSP00000506251.1:n.9663_9666delinsTCTC
ENST00000665585.1:c.2533_2536delinsTCTC
ENST00000680887.1:c.9655_9658delinsTCTC ENSP00000505508.1:p.Ser3219=
ENST00000380152.7:c.9655_9658delinsTCTC ENSP00000369497.3:p.Ser3219=
ENST00000470094.1:c.738_741delinsTCTC
ENST00000533776.1:n.243_246delinsTCTC
ENST00000544455.5:c.9655_9658delinsTCTC ENSP00000439902.1:p.Ser3219=
NM_000059.3:c.9655_9658delinsTCTC , LRG_293t1:c.9655_9658delinsTCTC NP_000050.2:p.Ser3219=
XM_011535203.1:c.9655_9658delinsTCTC XP_011533505.1:p.Ser3219=
XM_011535204.1:c.9559_9562delinsTCTC XP_011533506.1:p.Ser3187=
NM_000059.4:c.9655_9658delinsTCTC MANE Select NP_000050.3:p.Ser3219=