Canonical Allele Identifier: CA2695217833
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340798_32340802del , CM000675.2:g.32340798_32340802del GRCh38
NC_000013.10:g.32914935_32914939del , CM000675.1:g.32914935_32914939del GRCh37
NC_000013.9:g.31812935_31812939del NCBI36
NG_012772.3:g.30319_30323del , LRG_293:g.30319_30323del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.6443_6447del ENSP00000434898.2:p.Ser2148Ter
ENST00000528762.2:c.6443_6447del ENSP00000433168.2:p.Ser2148Ter
ENST00000530893.7:c.6074_6078del ENSP00000499438.2:p.Ser2025Ter
ENST00000665585.2:c.6443_6447del ENSP00000499570.2:p.Ser2148Ter
ENST00000666593.2:c.6443_6447del ENSP00000499256.2:p.Ser2148Ter
ENST00000700202.2:c.6443_6447del ENSP00000514856.2:p.Ser2148Ter
ENST00000380152.8:c.6443_6447del MANE Select ENSP00000369497.3:p.Ser2148Ter
ENST00000544455.6:c.6443_6447del ENSP00000439902.1:p.Ser2148Ter
ENST00000614259.2:c.6443_6447del ENSP00000506251.1:p.Ser2148Ter
ENST00000680887.1:c.6443_6447del ENSP00000505508.1:p.Ser2148Ter
ENST00000380152.7:c.6443_6447del ENSP00000369497.3:p.Ser2148Ter
ENST00000544455.5:c.6443_6447del ENSP00000439902.1:p.Ser2148Ter
ENST00000614259.1:n.6443_6447del
NM_000059.3:c.6443_6447del , LRG_293t1:c.6443_6447del NP_000050.2:p.Ser2148Ter
XM_011535203.1:c.6443_6447del XP_011533505.1:p.Ser2148Ter
XM_011535204.1:c.6443_6447del XP_011533506.1:p.Ser2148Ter
XM_011535205.1:c.6443_6447del XP_011533507.1:p.Ser2148Ter
NM_000059.4:c.6443_6447del MANE Select NP_000050.3:p.Ser2148Ter