Canonical Allele Identifier: CA2082837096
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072905878

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379650_32379651del , CM000675.2:g.32379650_32379651del GRCh38
NC_000013.10:g.32953787_32953788del , CM000675.1:g.32953787_32953788del GRCh37
NC_000013.9:g.31851787_31851788del NCBI36
NG_012772.3:g.69171_69172del , LRG_293:g.69171_69172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8954-100_8954-99del ENSP00000434898.2:n.8954-100_8954-99del
ENST00000528762.2:c.*321-100_*321-99del ENSP00000433168.2:n.*321-100_*321-99del
ENST00000530893.7:c.8585-100_8585-99del ENSP00000499438.2:n.8585-100_8585-99del
ENST00000665585.2:c.*516-100_*516-99del ENSP00000499570.2:n.*516-100_*516-99del
ENST00000666593.2:c.8954-100_8954-99del ENSP00000499256.2:n.8954-100_8954-99del
ENST00000700202.2:c.8953+135_8953+136del ENSP00000514856.2:n.8953+135_8953+136del
ENST00000700202.1:c.1420+135_1420+136del ENSP00000514856.1:n.1420+135_1420+136del
ENST00000700203.1:n.1081-100_1081-99del
ENST00000380152.8:c.8954-100_8954-99del MANE Select ENSP00000369497.3:n.8954-100_8954-99del
ENST00000544455.6:c.8954-100_8954-99del ENSP00000439902.1:n.8954-100_8954-99del
ENST00000614259.2:c.8962-100_8962-99del ENSP00000506251.1:n.8962-100_8962-99del
ENST00000665585.1:c.1832-100_1832-99del
ENST00000680887.1:c.8954-100_8954-99del ENSP00000505508.1:n.8954-100_8954-99del
ENST00000380152.7:c.8954-100_8954-99del ENSP00000369497.3:n.8954-100_8954-99del
ENST00000544455.5:c.8954-100_8954-99del ENSP00000439902.1:n.8954-100_8954-99del
NM_000059.3:c.8954-100_8954-99del , LRG_293t1:c.8954-100_8954-99del NP_000050.2:n.8954-100_8954-99del
XM_011535203.1:c.8954-100_8954-99del XP_011533505.1:n.8954-100_8954-99del
XM_011535204.1:c.8858-100_8858-99del XP_011533506.1:n.8858-100_8858-99del
XM_011535205.1:c.8755-100_8755-99del XP_011533507.1:n.8755-100_8755-99del
NM_000059.4:c.8954-100_8954-99del MANE Select NP_000050.3:n.8954-100_8954-99del