Canonical Allele Identifier: CA2590967513
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398115_32398116del , CM000675.2:g.32398115_32398116del GRCh38
NC_000013.10:g.32972252_32972253del , CM000675.1:g.32972252_32972253del GRCh37
NC_000013.9:g.31870252_31870253del NCBI36
NG_012772.3:g.87636_87637del , LRG_293:g.87636_87637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*172-47_*172-46del ENSP00000434898.2:n.*172-47_*172-46del
ENST00000528762.2:c.*1016-47_*1016-46del ENSP00000433168.2:n.*1016-47_*1016-46del
ENST00000530893.7:c.9280-47_9280-46del ENSP00000499438.2:n.9280-47_9280-46del
ENST00000665585.2:c.*1211-47_*1211-46del ENSP00000499570.2:n.*1211-47_*1211-46del
ENST00000700202.2:c.9598-47_9598-46del ENSP00000514856.2:n.9598-47_9598-46del
ENST00000700202.1:c.2065-47_2065-46del ENSP00000514856.1:n.2065-47_2065-46del
ENST00000700203.1:n.1776-47_1776-46del
ENST00000380152.8:c.9649-47_9649-46del MANE Select ENSP00000369497.3:n.9649-47_9649-46del
ENST00000544455.6:c.9649-47_9649-46del ENSP00000439902.1:n.9649-47_9649-46del
ENST00000614259.2:c.9657-47_9657-46del ENSP00000506251.1:n.9657-47_9657-46del
ENST00000665585.1:c.2527-47_2527-46del
ENST00000680887.1:c.9649-47_9649-46del ENSP00000505508.1:n.9649-47_9649-46del
ENST00000380152.7:c.9649-47_9649-46del ENSP00000369497.3:n.9649-47_9649-46del
ENST00000470094.1:c.732-47_732-46del
ENST00000533776.1:n.237-47_237-46del
ENST00000544455.5:c.9649-47_9649-46del ENSP00000439902.1:n.9649-47_9649-46del
NM_000059.3:c.9649-47_9649-46del , LRG_293t1:c.9649-47_9649-46del NP_000050.2:n.9649-47_9649-46del
XM_011535203.1:c.9649-47_9649-46del XP_011533505.1:n.9649-47_9649-46del
XM_011535204.1:c.9553-47_9553-46del XP_011533506.1:n.9553-47_9553-46del
NM_000059.4:c.9649-47_9649-46del MANE Select NP_000050.3:n.9649-47_9649-46del