Canonical Allele Identifier: CA2739277526
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859718
ClinVar RCV Id: RCV003644646

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379996_32379999dup , CM000675.2:g.32379996_32379999dup GRCh38
NC_000013.10:g.32954133_32954136dup , CM000675.1:g.32954133_32954136dup GRCh37
NC_000013.9:g.31852133_31852136dup NCBI36
NG_012772.3:g.69517_69520dup , LRG_293:g.69517_69520dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9118-11_9118-8dup ENSP00000434898.2:n.9118-11_9118-8dup
ENST00000528762.2:c.*485-11_*485-8dup ENSP00000433168.2:n.*485-11_*485-8dup
ENST00000530893.7:c.8749-11_8749-8dup ENSP00000499438.2:n.8749-11_8749-8dup
ENST00000665585.2:c.*680-11_*680-8dup ENSP00000499570.2:n.*680-11_*680-8dup
ENST00000666593.2:c.9118-11_9118-8dup ENSP00000499256.2:n.9118-11_9118-8dup
ENST00000700202.2:c.9067-11_9067-8dup ENSP00000514856.2:n.9067-11_9067-8dup
ENST00000700202.1:c.1534-11_1534-8dup ENSP00000514856.1:n.1534-11_1534-8dup
ENST00000700203.1:n.1245-11_1245-8dup
ENST00000380152.8:c.9118-11_9118-8dup MANE Select ENSP00000369497.3:n.9118-11_9118-8dup
ENST00000544455.6:c.9118-11_9118-8dup ENSP00000439902.1:n.9118-11_9118-8dup
ENST00000614259.2:c.9126-11_9126-8dup ENSP00000506251.1:n.9126-11_9126-8dup
ENST00000665585.1:c.1996-11_1996-8dup
ENST00000680887.1:c.9118-11_9118-8dup ENSP00000505508.1:n.9118-11_9118-8dup
ENST00000380152.7:c.9118-11_9118-8dup ENSP00000369497.3:n.9118-11_9118-8dup
ENST00000470094.1:c.75-11_75-8dup
ENST00000544455.5:c.9118-11_9118-8dup ENSP00000439902.1:n.9118-11_9118-8dup
NM_000059.3:c.9118-11_9118-8dup , LRG_293t1:c.9118-11_9118-8dup NP_000050.2:n.9118-11_9118-8dup
XM_011535203.1:c.9118-11_9118-8dup XP_011533505.1:n.9118-11_9118-8dup
XM_011535204.1:c.9022-11_9022-8dup XP_011533506.1:n.9022-11_9022-8dup
NM_000059.4:c.9118-11_9118-8dup MANE Select NP_000050.3:n.9118-11_9118-8dup