Canonical Allele Identifier: CA3225089376
Community Standard Title: NM_004448.4(ERBB2):c.2192T= (p.Phe731=)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723644T= , CM000679.2:g.39723644T= GRCh38
NC_000017.10:g.37879897T= , CM000679.1:g.37879897T= GRCh37
NC_000017.9:g.35133423T= NCBI36
NG_007503.1:g.40505T= , LRG_724:g.40505T=

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2192T= MANE Select NP_004439.2:p.Phe731=
ENST00000269571.10:c.2192T= MANE Select ENSP00000269571.4:p.Phe731=
NM_001005862.2:c.2102T= , LRG_724t1:c.2102T= NP_001005862.1:p.Phe701=
NM_001005862.3:c.2102T= NP_001005862.1:p.Phe701=
NM_001289936.1:c.2147T= , LRG_724t4:c.2147T= NP_001276865.1:p.Phe716=
NM_001289936.2:c.2147T= NP_001276865.1:p.Phe716=
NM_001289937.1:c.2192T= NP_001276866.1:p.Phe731=
NM_001289937.2:c.2192T= NP_001276866.1:p.Phe731=
NM_001382782.1:c.2102T= NP_001369711.1:p.Phe701=
NM_001382783.1:c.2102T= NP_001369712.1:p.Phe701=
NM_001382784.1:c.2309T= NP_001369713.1:p.Phe770=
NM_001382785.1:c.2294T= NP_001369714.1:p.Phe765=
NM_001382786.1:c.2289+20T= NP_001369715.1:n.2289+20T=
NM_001382787.1:c.2267T= NP_001369716.1:p.Phe756=
NM_001382788.1:c.2222T= NP_001369717.1:p.Phe741=
NM_001382789.1:c.2213T= NP_001369718.1:p.Phe738=
NM_001382790.1:c.2189T= NP_001369719.1:p.Phe730=
NM_001382791.1:c.2183T= NP_001369720.1:p.Phe728=
NM_001382792.1:c.2172+20T= NP_001369721.1:n.2172+20T=
NM_001382793.1:c.2166+26T= NP_001369722.1:n.2166+26T=
NM_001382794.1:c.2150T= NP_001369723.1:p.Phe717=
NM_001382795.1:c.2144T= NP_001369724.1:p.Phe715=
NM_001382796.1:c.2192T= NP_001369725.1:p.Phe731=
NM_001382797.1:c.2192T= NP_001369726.1:p.Phe731=
NM_001382798.1:c.2192T= NP_001369727.1:p.Phe731=
NM_001382799.1:c.2012T= NP_001369728.1:p.Phe671=
NM_001382800.1:c.2192T= NP_001369729.1:p.Phe731=
NM_001382801.1:c.2144T= NP_001369730.1:p.Phe715=
NM_001382802.1:c.1934T= NP_001369731.1:p.Phe645=
NM_001382803.1:c.2166+26T= NP_001369732.1:n.2166+26T=
NM_001382804.1:c.1364T= NP_001369733.1:p.Phe455=
NM_001382805.1:c.2192T= NP_001369734.1:p.Phe731=
NM_001382806.1:c.1223-320T= NP_001369735.1:n.1223-320T=
NM_004448.3:c.2192T= , LRG_724t2:c.2192T= NP_004439.2:p.Phe731=
NR_110535.1:n.2516T=
NR_110535.2:n.2430T=
ENST00000269571.9:c.2192T= ENSP00000269571.4:p.Phe731=
ENST00000406381.6:c.2102T= ENSP00000385185.2:p.Phe701=
ENST00000445658.6:c.1364T= ENSP00000404047.2:p.Phe455=
ENST00000541774.5:c.2147T= ENSP00000446466.1:p.Phe716=
ENST00000578373.5:c.*1982T= ENSP00000463427.1:n.*1982T=
ENST00000578630.1:n.801T=
ENST00000580074.1:c.298T=
ENST00000582818.5:c.490+20T=
ENST00000583038.5:n.3326T=
ENST00000584450.5:c.2192T= ENSP00000463714.1:p.Phe731=
ENST00000584601.5:c.2102T= ENSP00000462438.1:p.Phe701=
XM_024450641.1:c.2330T= XP_024306409.1:p.Phe777=
XM_024450642.1:c.2285T= XP_024306410.1:p.Phe762=
XM_024450643.1:c.2240T= XP_024306411.1:p.Phe747=