Canonical Allele Identifier: CA2082837141
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072906110

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379701_32379702del , CM000675.2:g.32379701_32379702del GRCh38
NC_000013.10:g.32953838_32953839del , CM000675.1:g.32953838_32953839del GRCh37
NC_000013.9:g.31851838_31851839del NCBI36
NG_012772.3:g.69222_69223del , LRG_293:g.69222_69223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8954-49_8954-48del ENSP00000434898.2:n.8954-49_8954-48del
ENST00000528762.2:c.*321-49_*321-48del ENSP00000433168.2:n.*321-49_*321-48del
ENST00000530893.7:c.8585-49_8585-48del ENSP00000499438.2:n.8585-49_8585-48del
ENST00000665585.2:c.*516-49_*516-48del ENSP00000499570.2:n.*516-49_*516-48del
ENST00000666593.2:c.8954-49_8954-48del ENSP00000499256.2:n.8954-49_8954-48del
ENST00000700202.2:c.8954-100_8954-99del ENSP00000514856.2:n.8954-100_8954-99del
ENST00000700202.1:c.1421-100_1421-99del ENSP00000514856.1:n.1421-100_1421-99del
ENST00000700203.1:n.1081-49_1081-48del
ENST00000380152.8:c.8954-49_8954-48del MANE Select ENSP00000369497.3:n.8954-49_8954-48del
ENST00000544455.6:c.8954-49_8954-48del ENSP00000439902.1:n.8954-49_8954-48del
ENST00000614259.2:c.8962-49_8962-48del ENSP00000506251.1:n.8962-49_8962-48del
ENST00000665585.1:c.1832-49_1832-48del
ENST00000680887.1:c.8954-49_8954-48del ENSP00000505508.1:n.8954-49_8954-48del
ENST00000380152.7:c.8954-49_8954-48del ENSP00000369497.3:n.8954-49_8954-48del
ENST00000544455.5:c.8954-49_8954-48del ENSP00000439902.1:n.8954-49_8954-48del
NM_000059.3:c.8954-49_8954-48del , LRG_293t1:c.8954-49_8954-48del NP_000050.2:n.8954-49_8954-48del
XM_011535203.1:c.8954-49_8954-48del XP_011533505.1:n.8954-49_8954-48del
XM_011535204.1:c.8858-49_8858-48del XP_011533506.1:n.8858-49_8858-48del
XM_011535205.1:c.8755-49_8755-48del XP_011533507.1:n.8755-49_8755-48del
NM_000059.4:c.8954-49_8954-48del MANE Select NP_000050.3:n.8954-49_8954-48del