Canonical Allele Identifier: CA135370
Gene: ERBB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44986
ClinVar RCV Id: RCV000038125
dbSNP Id: rs397516978

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724738del , CM000679.2:g.39724738del GRCh38
NC_000017.10:g.37880991del , CM000679.1:g.37880991del GRCh37
NC_000017.9:g.35134517del NCBI36
NG_007503.1:g.41599del , LRG_724:g.41599del

Transcript Alleles

HGVS Amino-acid change
ENST00000269571.10:c.2320del MANE Select ENSP00000269571.4:p.Met774TrpfsTer17
ENST00000269571.9:c.2320del ENSP00000269571.4:p.Met774TrpfsTer17
ENST00000406381.6:c.2230del ENSP00000385185.2:p.Met744TrpfsTer17
ENST00000445658.6:c.1492del ENSP00000404047.2:p.Met498TrpfsTer17
ENST00000541774.5:c.2275del ENSP00000446466.1:p.Met759TrpfsTer17
ENST00000578373.5:c.*2110del ENSP00000463427.1:n.*2110del
ENST00000580074.1:c.426del
ENST00000583038.5:n.3454del
ENST00000584450.5:c.2320del ENSP00000463714.1:p.Met774TrpfsTer17
ENST00000584601.5:c.2230del ENSP00000462438.1:p.Met744TrpfsTer17
NM_001005862.2:c.2230del , LRG_724t1:c.2230del NP_001005862.1:p.Met744TrpfsTer17
NM_001289936.1:c.2275del , LRG_724t4:c.2275del NP_001276865.1:p.Met759TrpfsTer17
NM_001289937.1:c.2320del NP_001276866.1:p.Met774TrpfsTer17
NM_004448.3:c.2320del , LRG_724t2:c.2320del NP_004439.2:p.Met774TrpfsTer17
NR_110535.1:n.2644del
XM_024450641.1:c.2458del XP_024306409.1:p.Met820TrpfsTer17
XM_024450642.1:c.2413del XP_024306410.1:p.Met805TrpfsTer17
XM_024450643.1:c.2368del XP_024306411.1:p.Met790TrpfsTer17
NM_001005862.3:c.2230del NP_001005862.1:p.Met744TrpfsTer17
NM_001289936.2:c.2275del NP_001276865.1:p.Met759TrpfsTer17
NM_001289937.2:c.2320del NP_001276866.1:p.Met774TrpfsTer17
NM_001382782.1:c.2230del NP_001369711.1:p.Met744TrpfsTer17
NM_001382783.1:c.2230del NP_001369712.1:p.Met744TrpfsTer17
NM_001382784.1:c.2437del NP_001369713.1:p.Met813TrpfsTer17
NM_001382785.1:c.2422del NP_001369714.1:p.Met808TrpfsTer17
NM_001382786.1:c.2401del NP_001369715.1:p.Met801TrpfsTer17
NM_001382787.1:c.2395del NP_001369716.1:p.Met799TrpfsTer17
NM_001382788.1:c.2350del NP_001369717.1:p.Met784TrpfsTer17
NM_001382789.1:c.2341del NP_001369718.1:p.Met781TrpfsTer17
NM_001382790.1:c.2317del NP_001369719.1:p.Met773TrpfsTer17
NM_001382791.1:c.2311del NP_001369720.1:p.Met771TrpfsTer17
NM_001382792.1:c.2284del NP_001369721.1:p.Met762TrpfsTer17
NM_001382793.1:c.2278del NP_001369722.1:p.Met760TrpfsTer17
NM_001382794.1:c.2278del NP_001369723.1:p.Met760TrpfsTer17
NM_001382795.1:c.2272del NP_001369724.1:p.Met758TrpfsTer17
NM_001382796.1:c.2320del NP_001369725.1:p.Met774TrpfsTer17
NM_001382797.1:c.2221del NP_001369726.1:p.Met741TrpfsTer17
NM_001382798.1:c.2320del NP_001369727.1:p.Met774TrpfsTer17
NM_001382799.1:c.2140del NP_001369728.1:p.Met714TrpfsTer17
NM_001382800.1:c.2308-311del NP_001369729.1:n.2308-311del
NM_001382801.1:c.2272del NP_001369730.1:p.Met758TrpfsTer17
NM_001382802.1:c.2062del NP_001369731.1:p.Met688TrpfsTer17
NM_001382803.1:c.2278del NP_001369732.1:p.Met760TrpfsTer17
NM_001382804.1:c.1492del NP_001369733.1:p.Met498TrpfsTer17
NM_001382805.1:c.2208+1078del NP_001369734.1:n.2208+1078del
NM_001382806.1:c.1282del NP_001369735.1:p.Met428TrpfsTer17
NM_004448.4:c.2320del MANE Select NP_004439.2:p.Met774TrpfsTer17
NR_110535.2:n.2558del