Canonical Allele Identifier: CA399304956
Community Standard Title: NM_004448.4(ERBB2):c.2606T>G (p.Leu869Arg)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725161T>G , CM000679.2:g.39725161T>G GRCh38
NC_000017.10:g.37881414T>G , CM000679.1:g.37881414T>G GRCh37
NC_000017.9:g.35134940T>G NCBI36
NG_007503.1:g.42022T>G , LRG_724:g.42022T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2606T>G MANE Select NP_004439.2:p.Leu869Arg
ENST00000269571.10:c.2606T>G MANE Select ENSP00000269571.4:p.Leu869Arg
NM_001005862.2:c.2516T>G , LRG_724t1:c.2516T>G NP_001005862.1:p.Leu839Arg
NM_001005862.3:c.2516T>G NP_001005862.1:p.Leu839Arg
NM_001289936.1:c.2561T>G , LRG_724t4:c.2561T>G NP_001276865.1:p.Leu854Arg
NM_001289936.2:c.2561T>G NP_001276865.1:p.Leu854Arg
NM_001289937.1:c.2606T>G NP_001276866.1:p.Leu869Arg
NM_001289937.2:c.2606T>G NP_001276866.1:p.Leu869Arg
NM_001382782.1:c.2516T>G NP_001369711.1:p.Leu839Arg
NM_001382783.1:c.2516T>G NP_001369712.1:p.Leu839Arg
NM_001382784.1:c.2723T>G NP_001369713.1:p.Leu908Arg
NM_001382785.1:c.2708T>G NP_001369714.1:p.Leu903Arg
NM_001382786.1:c.2687T>G NP_001369715.1:p.Leu896Arg
NM_001382787.1:c.2681T>G NP_001369716.1:p.Leu894Arg
NM_001382788.1:c.2636T>G NP_001369717.1:p.Leu879Arg
NM_001382789.1:c.2627T>G NP_001369718.1:p.Leu876Arg
NM_001382790.1:c.2603T>G NP_001369719.1:p.Leu868Arg
NM_001382791.1:c.2597T>G NP_001369720.1:p.Leu866Arg
NM_001382792.1:c.2570T>G NP_001369721.1:p.Leu857Arg
NM_001382793.1:c.2564T>G NP_001369722.1:p.Leu855Arg
NM_001382794.1:c.2564T>G NP_001369723.1:p.Leu855Arg
NM_001382795.1:c.2558T>G NP_001369724.1:p.Leu853Arg
NM_001382796.1:c.2606T>G NP_001369725.1:p.Leu869Arg
NM_001382797.1:c.2507T>G NP_001369726.1:p.Leu836Arg
NM_001382798.1:c.2494-166T>G NP_001369727.1:n.2494-166T>G
NM_001382799.1:c.2426T>G NP_001369728.1:p.Leu809Arg
NM_001382800.1:c.2420T>G NP_001369729.1:p.Leu807Arg
NM_001382801.1:c.2446-166T>G NP_001369730.1:n.2446-166T>G
NM_001382802.1:c.2348T>G NP_001369731.1:p.Leu783Arg
NM_001382803.1:c.2564T>G NP_001369732.1:p.Leu855Arg
NM_001382804.1:c.1778T>G NP_001369733.1:p.Leu593Arg
NM_001382805.1:c.2208+1501T>G NP_001369734.1:n.2208+1501T>G
NM_001382806.1:c.1568T>G NP_001369735.1:p.Leu523Arg
NM_004448.3:c.2606T>G , LRG_724t2:c.2606T>G NP_004439.2:p.Leu869Arg
NR_110535.1:n.2930T>G
NR_110535.2:n.2844T>G
ENST00000269571.9:c.2606T>G ENSP00000269571.4:p.Leu869Arg
ENST00000406381.6:c.2516T>G ENSP00000385185.2:p.Leu839Arg
ENST00000445658.6:c.1778T>G ENSP00000404047.2:p.Leu593Arg
ENST00000541774.5:c.2561T>G ENSP00000446466.1:p.Leu854Arg
ENST00000578373.5:c.*2396T>G ENSP00000463427.1:n.*2396T>G
ENST00000580074.1:c.712T>G
ENST00000583038.5:n.3740T>G
ENST00000584450.5:c.2606T>G ENSP00000463714.1:p.Leu869Arg
ENST00000584601.5:c.2516T>G ENSP00000462438.1:p.Leu839Arg
XM_024450641.1:c.2744T>G XP_024306409.1:p.Leu915Arg
XM_024450642.1:c.2699T>G XP_024306410.1:p.Leu900Arg
XM_024450643.1:c.2654T>G XP_024306411.1:p.Leu885Arg