Canonical Allele Identifier: CA247470663
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs754443048

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357544_32357545del , CM000675.2:g.32357544_32357545del GRCh38
NC_000013.10:g.32931681_32931682del , CM000675.1:g.32931681_32931682del GRCh37
NC_000013.9:g.31829681_31829682del NCBI36
NG_012772.3:g.47065_47066del , LRG_293:g.47065_47066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7618-198_7618-197del ENSP00000434898.2:n.7618-198_7618-197del
ENST00000528762.2:c.7618-198_7618-197del ENSP00000433168.2:n.7618-198_7618-197del
ENST00000530893.7:c.7249-198_7249-197del ENSP00000499438.2:n.7249-198_7249-197del
ENST00000665585.2:c.7618-198_7618-197del ENSP00000499570.2:n.7618-198_7618-197del
ENST00000666593.2:c.7618-198_7618-197del ENSP00000499256.2:n.7618-198_7618-197del
ENST00000700202.2:c.7618-198_7618-197del ENSP00000514856.2:n.7618-198_7618-197del
ENST00000700202.1:c.85-198_85-197del ENSP00000514856.1:n.85-198_85-197del
ENST00000380152.8:c.7618-198_7618-197del MANE Select ENSP00000369497.3:n.7618-198_7618-197del
ENST00000544455.6:c.7618-198_7618-197del ENSP00000439902.1:n.7618-198_7618-197del
ENST00000614259.2:c.7618-198_7618-197del ENSP00000506251.1:n.7618-198_7618-197del
ENST00000665585.1:c.183-198_183-197del
ENST00000680887.1:c.7618-198_7618-197del ENSP00000505508.1:n.7618-198_7618-197del
ENST00000380152.7:c.7618-198_7618-197del ENSP00000369497.3:n.7618-198_7618-197del
ENST00000544455.5:c.7618-198_7618-197del ENSP00000439902.1:n.7618-198_7618-197del
ENST00000614259.1:n.7618-198_7618-197del
NM_000059.3:c.7618-198_7618-197del , LRG_293t1:c.7618-198_7618-197del NP_000050.2:n.7618-198_7618-197del
XM_011535203.1:c.7618-198_7618-197del XP_011533505.1:n.7618-198_7618-197del
XM_011535204.1:c.7522-198_7522-197del XP_011533506.1:n.7522-198_7522-197del
XM_011535205.1:c.7618-198_7618-197del XP_011533507.1:n.7618-198_7618-197del
NM_000059.4:c.7618-198_7618-197del MANE Select NP_000050.3:n.7618-198_7618-197del