Canonical Allele Identifier: CA658761179
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376705del , CM000675.2:g.32376705del GRCh38
NC_000013.10:g.32950842del , CM000675.1:g.32950842del GRCh37
NC_000013.9:g.31848842del NCBI36
NG_012772.3:g.66226del , LRG_293:g.66226del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8668del ENSP00000434898.2:p.Leu2890Ter
ENST00000528762.2:c.*35del ENSP00000433168.2:n.*35del
ENST00000530893.7:c.8299del ENSP00000499438.2:p.Leu2767Ter
ENST00000665585.2:c.*230del ENSP00000499570.2:n.*230del
ENST00000666593.2:c.8668del ENSP00000499256.2:p.Leu2890Ter
ENST00000700202.2:c.8668del ENSP00000514856.2:p.Leu2890Ter
ENST00000700202.1:c.1135del ENSP00000514856.1:p.Leu379Ter
ENST00000700203.1:n.795del
ENST00000380152.8:c.8668del MANE Select ENSP00000369497.3:p.Leu2890Ter
ENST00000544455.6:c.8668del ENSP00000439902.1:p.Leu2890Ter
ENST00000614259.2:c.8676del ENSP00000506251.1:n.8676del
ENST00000665585.1:c.1546del
ENST00000680887.1:c.8668del ENSP00000505508.1:p.Leu2890Ter
ENST00000380152.7:c.8668del ENSP00000369497.3:p.Leu2890Ter
ENST00000528762.1:c.230del ENSP00000433168.1:n.230del
ENST00000544455.5:c.8668del ENSP00000439902.1:p.Leu2890Ter
NM_000059.3:c.8668del , LRG_293t1:c.8668del NP_000050.2:p.Leu2890Ter
XM_011535203.1:c.8668del XP_011533505.1:p.Leu2890Ter
XM_011535204.1:c.8572del XP_011533506.1:p.Leu2858Ter
XM_011535205.1:c.8668del XP_011533507.1:p.Leu2890Ter
NM_000059.4:c.8668del MANE Select NP_000050.3:p.Leu2890Ter