Canonical Allele Identifier: CA2259228135
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2059676926

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725102del , CM000679.2:g.39725102del GRCh38
NC_000017.10:g.37881355del , CM000679.1:g.37881355del GRCh37
NC_000017.9:g.35134881del NCBI36
NG_007503.1:g.41963del , LRG_724:g.41963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2547del MANE Select ENSP00000269571.4:p.Asn850ThrfsTer?
ENST00000269571.9:c.2547del ENSP00000269571.4:p.Asn850ThrfsTer?
ENST00000406381.6:c.2457del ENSP00000385185.2:p.Asn820ThrfsTer?
ENST00000445658.6:c.1719del ENSP00000404047.2:p.Asn574ThrfsTer?
ENST00000541774.5:c.2502del ENSP00000446466.1:p.Asn835ThrfsTer?
ENST00000578373.5:c.*2337del ENSP00000463427.1:n.*2337del
ENST00000580074.1:c.653del
ENST00000583038.5:n.3681del
ENST00000584450.5:c.2547del ENSP00000463714.1:p.Asn850ThrfsTer?
ENST00000584601.5:c.2457del ENSP00000462438.1:p.Asn820ThrfsTer?
NM_001005862.2:c.2457del , LRG_724t1:c.2457del NP_001005862.1:p.Asn820ThrfsTer?
NM_001289936.1:c.2502del , LRG_724t4:c.2502del NP_001276865.1:p.Asn835ThrfsTer?
NM_001289937.1:c.2547del NP_001276866.1:p.Asn850ThrfsTer?
NM_004448.3:c.2547del , LRG_724t2:c.2547del NP_004439.2:p.Asn850ThrfsTer?
NR_110535.1:n.2871del
XM_024450641.1:c.2685del XP_024306409.1:p.Asn896ThrfsTer?
XM_024450642.1:c.2640del XP_024306410.1:p.Asn881ThrfsTer?
XM_024450643.1:c.2595del XP_024306411.1:p.Asn866ThrfsTer?
NM_001005862.3:c.2457del NP_001005862.1:p.Asn820ThrfsTer?
NM_001289936.2:c.2502del NP_001276865.1:p.Asn835ThrfsTer?
NM_001289937.2:c.2547del NP_001276866.1:p.Asn850ThrfsTer?
NM_001382782.1:c.2457del NP_001369711.1:p.Asn820ThrfsTer?
NM_001382783.1:c.2457del NP_001369712.1:p.Asn820ThrfsTer?
NM_001382784.1:c.2664del NP_001369713.1:p.Asn889ThrfsTer?
NM_001382785.1:c.2649del NP_001369714.1:p.Asn884ThrfsTer?
NM_001382786.1:c.2628del NP_001369715.1:p.Asn877ThrfsTer?
NM_001382787.1:c.2622del NP_001369716.1:p.Asn875ThrfsTer?
NM_001382788.1:c.2577del NP_001369717.1:p.Asn860ThrfsTer?
NM_001382789.1:c.2568del NP_001369718.1:p.Asn857ThrfsTer?
NM_001382790.1:c.2544del NP_001369719.1:p.Asn849ThrfsTer?
NM_001382791.1:c.2538del NP_001369720.1:p.Asn847ThrfsTer?
NM_001382792.1:c.2511del NP_001369721.1:p.Asn838ThrfsTer?
NM_001382793.1:c.2505del NP_001369722.1:p.Asn836ThrfsTer?
NM_001382794.1:c.2505del NP_001369723.1:p.Asn836ThrfsTer?
NM_001382795.1:c.2499del NP_001369724.1:p.Asn834ThrfsTer?
NM_001382796.1:c.2547del NP_001369725.1:p.Asn850ThrfsTer?
NM_001382797.1:c.2448del NP_001369726.1:p.Asn817ThrfsTer?
NM_001382798.1:c.2493+191del NP_001369727.1:n.2493+191del
NM_001382799.1:c.2367del NP_001369728.1:p.Asn790ThrfsTer?
NM_001382800.1:c.2361del NP_001369729.1:p.Asn788ThrfsTer?
NM_001382801.1:c.2445+191del NP_001369730.1:n.2445+191del
NM_001382802.1:c.2289del NP_001369731.1:p.Asn764ThrfsTer?
NM_001382803.1:c.2505del NP_001369732.1:p.Asn836ThrfsTer?
NM_001382804.1:c.1719del NP_001369733.1:p.Asn574ThrfsTer?
NM_001382805.1:c.2208+1442del NP_001369734.1:n.2208+1442del
NM_001382806.1:c.1509del NP_001369735.1:p.Asn504ThrfsTer?
NM_004448.4:c.2547del MANE Select NP_004439.2:p.Asn850ThrfsTer?
NR_110535.2:n.2785del