Canonical Allele Identifier: CA983631270

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059657112
• gnomAD v3: 17-39724775-TG-T
• gnomAD v4: 17-39724775-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724778del , CM000679.2:g.39724778del	GRCh38
NC_000017.10:g.37881031del , CM000679.1:g.37881031del	GRCh37
NC_000017.9:g.35134557del	NCBI36
NG_007503.1:g.41639del , LRG_724:g.41639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2360del MANE Select	ENSP00000269571.4:p.Gly787AlafsTer4
ENST00000269571.9:c.2360del	ENSP00000269571.4:p.Gly787AlafsTer4
ENST00000406381.6:c.2270del	ENSP00000385185.2:p.Gly757AlafsTer4
ENST00000445658.6:c.1532del	ENSP00000404047.2:p.Gly511AlafsTer4
ENST00000541774.5:c.2315del	ENSP00000446466.1:p.Gly772AlafsTer4
ENST00000578373.5:c.*2150del	ENSP00000463427.1:n.*2150del
ENST00000580074.1:c.466del
ENST00000583038.5:n.3494del
ENST00000584450.5:c.2360del	ENSP00000463714.1:p.Gly787AlafsTer4
ENST00000584601.5:c.2270del	ENSP00000462438.1:p.Gly757AlafsTer4
NM_001005862.2:c.2270del , LRG_724t1:c.2270del	NP_001005862.1:p.Gly757AlafsTer4
NM_001289936.1:c.2315del , LRG_724t4:c.2315del	NP_001276865.1:p.Gly772AlafsTer4
NM_001289937.1:c.2360del	NP_001276866.1:p.Gly787AlafsTer4
NM_004448.3:c.2360del , LRG_724t2:c.2360del	NP_004439.2:p.Gly787AlafsTer4
NR_110535.1:n.2684del
XM_024450641.1:c.2498del	XP_024306409.1:p.Gly833AlafsTer4
XM_024450642.1:c.2453del	XP_024306410.1:p.Gly818AlafsTer4
XM_024450643.1:c.2408del	XP_024306411.1:p.Gly803AlafsTer4
NM_001005862.3:c.2270del	NP_001005862.1:p.Gly757AlafsTer4
NM_001289936.2:c.2315del	NP_001276865.1:p.Gly772AlafsTer4
NM_001289937.2:c.2360del	NP_001276866.1:p.Gly787AlafsTer4
NM_001382782.1:c.2270del	NP_001369711.1:p.Gly757AlafsTer4
NM_001382783.1:c.2270del	NP_001369712.1:p.Gly757AlafsTer4
NM_001382784.1:c.2477del	NP_001369713.1:p.Gly826AlafsTer4
NM_001382785.1:c.2462del	NP_001369714.1:p.Gly821AlafsTer4
NM_001382786.1:c.2441del	NP_001369715.1:p.Gly814AlafsTer4
NM_001382787.1:c.2435del	NP_001369716.1:p.Gly812AlafsTer4
NM_001382788.1:c.2390del	NP_001369717.1:p.Gly797AlafsTer4
NM_001382789.1:c.2381del	NP_001369718.1:p.Gly794AlafsTer4
NM_001382790.1:c.2357del	NP_001369719.1:p.Gly786AlafsTer4
NM_001382791.1:c.2351del	NP_001369720.1:p.Gly784AlafsTer4
NM_001382792.1:c.2324del	NP_001369721.1:p.Gly775AlafsTer4
NM_001382793.1:c.2318del	NP_001369722.1:p.Gly773AlafsTer4
NM_001382794.1:c.2318del	NP_001369723.1:p.Gly773AlafsTer4
NM_001382795.1:c.2312del	NP_001369724.1:p.Gly771AlafsTer4
NM_001382796.1:c.2360del	NP_001369725.1:p.Gly787AlafsTer4
NM_001382797.1:c.2261del	NP_001369726.1:p.Gly754AlafsTer4
NM_001382798.1:c.2360del	NP_001369727.1:p.Gly787AlafsTer4
NM_001382799.1:c.2180del	NP_001369728.1:p.Gly727AlafsTer4
NM_001382800.1:c.2308-271del	NP_001369729.1:n.2308-271del
NM_001382801.1:c.2312del	NP_001369730.1:p.Gly771AlafsTer4
NM_001382802.1:c.2102del	NP_001369731.1:p.Gly701AlafsTer4
NM_001382803.1:c.2318del	NP_001369732.1:p.Gly773AlafsTer4
NM_001382804.1:c.1532del	NP_001369733.1:p.Gly511AlafsTer4
NM_001382805.1:c.2208+1118del	NP_001369734.1:n.2208+1118del
NM_001382806.1:c.1322del	NP_001369735.1:p.Gly441AlafsTer4
NM_004448.4:c.2360del MANE Select	NP_004439.2:p.Gly787AlafsTer4
NR_110535.2:n.2598del