Canonical Allele Identifier: CA16614002
Gene: BRCA2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356439del , CM000675.2:g.32356439del GRCh38
NC_000013.10:g.32930576del , CM000675.1:g.32930576del GRCh37
NC_000013.9:g.31828576del NCBI36
NG_012772.3:g.45960del , LRG_293:g.45960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7447del ENSP00000434898.2:p.Ser2483ValfsTer?
ENST00000528762.2:c.7447del ENSP00000433168.2:p.Ser2483ValfsTer?
ENST00000530893.7:c.7078del ENSP00000499438.2:p.Ser2360ValfsTer?
ENST00000665585.2:c.7447del ENSP00000499570.2:p.Ser2483ValfsTer?
ENST00000666593.2:c.7447del ENSP00000499256.2:p.Ser2483ValfsTer?
ENST00000700202.2:c.7447del ENSP00000514856.2:p.Ser2483ValfsTer?
ENST00000380152.8:c.7447del MANE Select ENSP00000369497.3:p.Ser2483ValfsTer?
ENST00000544455.6:c.7447del ENSP00000439902.1:p.Ser2483ValfsTer?
ENST00000614259.2:c.7447del ENSP00000506251.1:p.Ser2483ValfsTer?
ENST00000665585.1:c.12del
ENST00000680887.1:c.7447del ENSP00000505508.1:p.Ser2483ValfsTer?
ENST00000380152.7:c.7447del ENSP00000369497.3:p.Ser2483ValfsTer?
ENST00000544455.5:c.7447del ENSP00000439902.1:p.Ser2483ValfsTer?
ENST00000614259.1:n.7447del
NM_000059.3:c.7447del , LRG_293t1:c.7447del NP_000050.2:p.Ser2483ValfsTer?
XM_011535203.1:c.7447del XP_011533505.1:p.Ser2483ValfsTer?
XM_011535204.1:c.7351del XP_011533506.1:p.Ser2451ValfsTer?
XM_011535205.1:c.7447del XP_011533507.1:p.Ser2483ValfsTer?
NM_000059.4:c.7447del MANE Select NP_000050.3:p.Ser2483ValfsTer?
Search 100 bp 5'
Search 100 bp 3'