Canonical Allele Identifier: CA2082834193
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398205_32398206delinsCA , CM000675.2:g.32398205_32398206delinsCA GRCh38
NC_000013.10:g.32972342_32972343delinsCA , CM000675.1:g.32972342_32972343delinsCA GRCh37
NC_000013.9:g.31870342_31870343delinsCA NCBI36
NG_012772.3:g.87726_87727delinsCA , LRG_293:g.87726_87727delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*215_*216delinsCA ENSP00000434898.2:n.*215_*216delinsCA
ENST00000528762.2:c.*1059_*1060delinsCA ENSP00000433168.2:n.*1059_*1060delinsCA
ENST00000530893.7:c.9323_9324delinsCA ENSP00000499438.2:p.Ser3108=
ENST00000665585.2:c.*1254_*1255delinsCA ENSP00000499570.2:n.*1254_*1255delinsCA
ENST00000700202.2:c.9641_9642delinsCA ENSP00000514856.2:p.Ser3214=
ENST00000700202.1:c.2108_2109delinsCA ENSP00000514856.1:p.Ser703=
ENST00000700203.1:n.1819_1820delinsCA
ENST00000380152.8:c.9692_9693delinsCA MANE Select ENSP00000369497.3:p.Ser3231=
ENST00000544455.6:c.9692_9693delinsCA ENSP00000439902.1:p.Ser3231=
ENST00000614259.2:c.9700_9701delinsCA ENSP00000506251.1:n.9700_9701delinsCA
ENST00000665585.1:c.2570_2571delinsCA
ENST00000680887.1:c.9692_9693delinsCA ENSP00000505508.1:p.Ser3231=
ENST00000380152.7:c.9692_9693delinsCA ENSP00000369497.3:p.Ser3231=
ENST00000470094.1:c.775_776delinsCA
ENST00000533776.1:n.280_281delinsCA
ENST00000544455.5:c.9692_9693delinsCA ENSP00000439902.1:p.Ser3231=
NM_000059.3:c.9692_9693delinsCA , LRG_293t1:c.9692_9693delinsCA NP_000050.2:p.Ser3231=
XM_011535203.1:c.9692_9693delinsCA XP_011533505.1:p.Ser3231=
XM_011535204.1:c.9596_9597delinsCA XP_011533506.1:p.Ser3199=
NM_000059.4:c.9692_9693delinsCA MANE Select NP_000050.3:p.Ser3231=