Canonical Allele Identifier: CA697325059
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1307483636

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316871_32316874del , CM000675.2:g.32316871_32316874del GRCh38
NC_000013.10:g.32891008_32891011del , CM000675.1:g.32891008_32891011del GRCh37
NC_000013.9:g.31789008_31789011del NCBI36
NG_012772.3:g.6392_6395del , LRG_293:g.6392_6395del
NG_017006.1:g.84_87del
NG_017006.2:g.3493_3496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.67+344_67+347del ENSP00000434898.2:n.67+344_67+347del
ENST00000528762.2:c.67+344_67+347del ENSP00000433168.2:n.67+344_67+347del
ENST00000530893.7:c.-303+348_-303+351del ENSP00000499438.2:n.-303+348_-303+351del
ENST00000665585.2:c.67+344_67+347del ENSP00000499570.2:n.67+344_67+347del
ENST00000666593.2:c.67+344_67+347del ENSP00000499256.2:n.67+344_67+347del
ENST00000700202.2:c.67+344_67+347del ENSP00000514856.2:n.67+344_67+347del
ENST00000700199.1:n.535_538del
ENST00000700200.1:n.191+344_191+347del
ENST00000700201.1:c.67+344_67+347del ENSP00000514855.1:n.67+344_67+347del
ENST00000380152.8:c.67+344_67+347del MANE Select ENSP00000369497.3:n.67+344_67+347del
ENST00000544455.6:c.67+344_67+347del ENSP00000439902.1:n.67+344_67+347del
ENST00000614259.2:c.67+344_67+347del ENSP00000506251.1:n.67+344_67+347del
ENST00000680887.1:c.67+344_67+347del ENSP00000505508.1:n.67+344_67+347del
ENST00000380152.7:c.67+344_67+347del ENSP00000369497.3:n.67+344_67+347del
ENST00000530893.6:n.265+348_265+351del
ENST00000544455.5:c.67+344_67+347del ENSP00000439902.1:n.67+344_67+347del
ENST00000614259.1:n.67+344_67+347del
NM_000059.3:c.67+344_67+347del , LRG_293t1:c.67+344_67+347del NP_000050.2:n.67+344_67+347del
XM_011535203.1:c.67+344_67+347del XP_011533505.1:n.67+344_67+347del
XM_011535204.1:c.67+344_67+347del XP_011533506.1:n.67+344_67+347del
XM_011535205.1:c.67+344_67+347del XP_011533507.1:n.67+344_67+347del
NM_000059.4:c.67+344_67+347del MANE Select NP_000050.3:n.67+344_67+347del