Canonical Allele Identifier: CA2622597040
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315599dup , CM000675.2:g.32315599dup GRCh38
NC_000013.10:g.32889736dup , CM000675.1:g.32889736dup GRCh37
NC_000013.9:g.31787736dup NCBI36
NG_012772.3:g.5120dup , LRG_293:g.5120dup
NG_017006.1:g.1356dup
NG_017006.2:g.4765dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-108dup ENSP00000434898.2:n.-108dup
ENST00000528762.2:c.-108dup ENSP00000433168.2:n.-108dup
ENST00000530893.7:c.-473dup ENSP00000499438.2:n.-473dup
ENST00000665585.2:c.-108dup ENSP00000499570.2:n.-108dup
ENST00000666593.2:c.-108dup ENSP00000499256.2:n.-108dup
ENST00000700202.2:c.-108dup ENSP00000514856.2:n.-108dup
ENST00000700199.1:n.17dup
ENST00000700200.1:n.17dup
ENST00000700201.1:c.-108dup ENSP00000514855.1:n.-108dup
ENST00000380152.8:c.-108dup MANE Select ENSP00000369497.3:n.-108dup
ENST00000544455.6:c.-40+454dup ENSP00000439902.1:n.-40+454dup
ENST00000380152.7:c.-108dup ENSP00000369497.3:n.-108dup
ENST00000530893.6:n.95dup
ENST00000544455.5:c.-108dup ENSP00000439902.1:n.-108dup
NM_000059.3:c.-108dup , LRG_293t1:c.-108dup NP_000050.2:n.-108dup
XM_011535203.1:c.-40+454dup XP_011533505.1:n.-40+454dup
XM_011535204.1:c.-108dup XP_011533506.1:n.-108dup
XM_011535205.1:c.-108dup XP_011533507.1:n.-108dup
NM_000059.4:c.-108dup MANE Select NP_000050.3:n.-108dup