Canonical Allele Identifier: CA2082828109
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340195_32340208delinsCTTGTGATGTTAGT , CM000675.2:g.32340195_32340208delinsCTTGTGATGTTAGT GRCh38
NC_000013.10:g.32914332_32914345delinsCTTGTGATGTTAGT , CM000675.1:g.32914332_32914345delinsCTTGTGATGTTAGT GRCh37
NC_000013.9:g.31812332_31812345delinsCTTGTGATGTTAGT NCBI36
NG_012772.3:g.29716_29729delinsCTTGTGATGTTAGT , LRG_293:g.29716_29729delinsCTTGTGATGTTAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000434898.2:p.Pro1947=
ENST00000528762.2:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000433168.2:p.Pro1947=
ENST00000530893.7:c.5471_5484delinsCTTGTGATGTTAGT ENSP00000499438.2:p.Pro1824=
ENST00000665585.2:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000499570.2:p.Pro1947=
ENST00000666593.2:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000499256.2:p.Pro1947=
ENST00000700202.2:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000514856.2:p.Pro1947=
ENST00000380152.8:c.5840_5853delinsCTTGTGATGTTAGT MANE Select ENSP00000369497.3:p.Pro1947=
ENST00000544455.6:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000439902.1:p.Pro1947=
ENST00000614259.2:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000506251.1:p.Pro1947=
ENST00000680887.1:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000505508.1:p.Pro1947=
ENST00000380152.7:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000369497.3:p.Pro1947=
ENST00000544455.5:c.5840_5853delinsCTTGTGATGTTAGT ENSP00000439902.1:p.Pro1947=
ENST00000614259.1:n.5840_5853delinsCTTGTGATGTTAGT
NM_000059.3:c.5840_5853delinsCTTGTGATGTTAGT , LRG_293t1:c.5840_5853delinsCTTGTGATGTTAGT NP_000050.2:p.Pro1947=
XM_011535203.1:c.5840_5853delinsCTTGTGATGTTAGT XP_011533505.1:p.Pro1947=
XM_011535204.1:c.5840_5853delinsCTTGTGATGTTAGT XP_011533506.1:p.Pro1947=
XM_011535205.1:c.5840_5853delinsCTTGTGATGTTAGT XP_011533507.1:p.Pro1947=
NM_000059.4:c.5840_5853delinsCTTGTGATGTTAGT MANE Select NP_000050.3:p.Pro1947=