Canonical Allele Identifier: CA697347958
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1347769194

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376290_32376292del , CM000675.2:g.32376290_32376292del GRCh38
NC_000013.10:g.32950427_32950429del , CM000675.1:g.32950427_32950429del GRCh37
NC_000013.9:g.31848427_31848429del NCBI36
NG_012772.3:g.65811_65813del , LRG_293:g.65811_65813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8633-380_8633-378del ENSP00000434898.2:n.8633-380_8633-378del
ENST00000528762.2:c.8697-380_8697-378del ENSP00000433168.2:n.8697-380_8697-378del
ENST00000530893.7:c.8264-380_8264-378del ENSP00000499438.2:n.8264-380_8264-378del
ENST00000665585.2:c.*195-380_*195-378del ENSP00000499570.2:n.*195-380_*195-378del
ENST00000666593.2:c.8633-380_8633-378del ENSP00000499256.2:n.8633-380_8633-378del
ENST00000700202.2:c.8633-380_8633-378del ENSP00000514856.2:n.8633-380_8633-378del
ENST00000700202.1:c.1100-380_1100-378del ENSP00000514856.1:n.1100-380_1100-378del
ENST00000700203.1:n.380_382del
ENST00000380152.8:c.8633-380_8633-378del MANE Select ENSP00000369497.3:n.8633-380_8633-378del
ENST00000544455.6:c.8633-380_8633-378del ENSP00000439902.1:n.8633-380_8633-378del
ENST00000614259.2:c.8641-380_8641-378del ENSP00000506251.1:n.8641-380_8641-378del
ENST00000665585.1:c.1511-380_1511-378del
ENST00000680887.1:c.8633-380_8633-378del ENSP00000505508.1:n.8633-380_8633-378del
ENST00000380152.7:c.8633-380_8633-378del ENSP00000369497.3:n.8633-380_8633-378del
ENST00000528762.1:c.195-380_195-378del ENSP00000433168.1:n.195-380_195-378del
ENST00000544455.5:c.8633-380_8633-378del ENSP00000439902.1:n.8633-380_8633-378del
NM_000059.3:c.8633-380_8633-378del , LRG_293t1:c.8633-380_8633-378del NP_000050.2:n.8633-380_8633-378del
XM_011535203.1:c.8633-380_8633-378del XP_011533505.1:n.8633-380_8633-378del
XM_011535204.1:c.8537-380_8537-378del XP_011533506.1:n.8537-380_8537-378del
XM_011535205.1:c.8633-380_8633-378del XP_011533507.1:n.8633-380_8633-378del
NM_000059.4:c.8633-380_8633-378del MANE Select NP_000050.3:n.8633-380_8633-378del