Canonical Allele Identifier: CA2082759188
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32330965_32330969delinsATGAT , CM000675.2:g.32330965_32330969delinsATGAT GRCh38
NC_000013.10:g.32905102_32905106delinsATGAT , CM000675.1:g.32905102_32905106delinsATGAT GRCh37
NC_000013.9:g.31803102_31803106delinsATGAT NCBI36
NG_012772.3:g.20486_20490delinsATGAT , LRG_293:g.20486_20490delinsATGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.728_732delinsATGAT ENSP00000434898.2:p.Asn243=
ENST00000528762.2:c.728_732delinsATGAT ENSP00000433168.2:p.Asn243=
ENST00000530893.7:c.359_363delinsATGAT ENSP00000499438.2:p.Asn120=
ENST00000665585.2:c.728_732delinsATGAT ENSP00000499570.2:p.Asn243=
ENST00000666593.2:c.728_732delinsATGAT ENSP00000499256.2:p.Asn243=
ENST00000700202.2:c.728_732delinsATGAT ENSP00000514856.2:p.Asn243=
ENST00000700201.1:c.*507_*511delinsATGAT ENSP00000514855.1:n.*507_*511delinsATGAT
ENST00000380152.8:c.728_732delinsATGAT MANE Select ENSP00000369497.3:p.Asn243=
ENST00000544455.6:c.728_732delinsATGAT ENSP00000439902.1:p.Asn243=
ENST00000614259.2:c.728_732delinsATGAT ENSP00000506251.1:p.Asn243=
ENST00000680887.1:c.728_732delinsATGAT ENSP00000505508.1:p.Asn243=
ENST00000380152.7:c.728_732delinsATGAT ENSP00000369497.3:p.Asn243=
ENST00000530893.6:n.926_930delinsATGAT
ENST00000544455.5:c.728_732delinsATGAT ENSP00000439902.1:p.Asn243=
ENST00000614259.1:n.728_732delinsATGAT
NM_000059.3:c.728_732delinsATGAT , LRG_293t1:c.728_732delinsATGAT NP_000050.2:p.Asn243=
XM_011535203.1:c.728_732delinsATGAT XP_011533505.1:p.Asn243=
XM_011535204.1:c.728_732delinsATGAT XP_011533506.1:p.Asn243=
XM_011535205.1:c.728_732delinsATGAT XP_011533507.1:p.Asn243=
NM_000059.4:c.728_732delinsATGAT MANE Select NP_000050.3:p.Asn243=