Canonical Allele Identifier: CA2082837474
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379753_32379757delinsTACTG , CM000675.2:g.32379753_32379757delinsTACTG GRCh38
NC_000013.10:g.32953890_32953894delinsTACTG , CM000675.1:g.32953890_32953894delinsTACTG GRCh37
NC_000013.9:g.31851890_31851894delinsTACTG NCBI36
NG_012772.3:g.69274_69278delinsTACTG , LRG_293:g.69274_69278delinsTACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8957_8961delinsTACTG ENSP00000434898.2:p.Ile2986=
ENST00000528762.2:c.*324_*328delinsTACTG ENSP00000433168.2:n.*324_*328delinsTACTG
ENST00000530893.7:c.8588_8592delinsTACTG ENSP00000499438.2:p.Ile2863=
ENST00000665585.2:c.*519_*523delinsTACTG ENSP00000499570.2:n.*519_*523delinsTACTG
ENST00000666593.2:c.8957_8961delinsTACTG ENSP00000499256.2:p.Ile2986=
ENST00000700202.2:c.8954-48_8954-44delinsTACTG ENSP00000514856.2:n.8954-48_8954-44delinsTACTG
ENST00000700202.1:c.1421-48_1421-44delinsTACTG ENSP00000514856.1:n.1421-48_1421-44delinsTACTG
ENST00000700203.1:n.1084_1088delinsTACTG
ENST00000380152.8:c.8957_8961delinsTACTG MANE Select ENSP00000369497.3:p.Ile2986=
ENST00000544455.6:c.8957_8961delinsTACTG ENSP00000439902.1:p.Ile2986=
ENST00000614259.2:c.8965_8969delinsTACTG ENSP00000506251.1:n.8965_8969delinsTACTG
ENST00000665585.1:c.1835_1839delinsTACTG
ENST00000680887.1:c.8957_8961delinsTACTG ENSP00000505508.1:p.Ile2986=
ENST00000380152.7:c.8957_8961delinsTACTG ENSP00000369497.3:p.Ile2986=
ENST00000544455.5:c.8957_8961delinsTACTG ENSP00000439902.1:p.Ile2986=
NM_000059.3:c.8957_8961delinsTACTG , LRG_293t1:c.8957_8961delinsTACTG NP_000050.2:p.Ile2986=
XM_011535203.1:c.8957_8961delinsTACTG XP_011533505.1:p.Ile2986=
XM_011535204.1:c.8861_8865delinsTACTG XP_011533506.1:p.Ile2954=
XM_011535205.1:c.8758_8762delinsTACTG XP_011533507.1:p.Tyr2920=
NM_000059.4:c.8957_8961delinsTACTG MANE Select NP_000050.3:p.Ile2986=