Canonical Allele Identifier: CA399302220
Community Standard Title: NM_004448.4(ERBB2):c.2183C>G (p.Ser728Cys)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723635C>G , CM000679.2:g.39723635C>G GRCh38
NC_000017.10:g.37879888C>G , CM000679.1:g.37879888C>G GRCh37
NC_000017.9:g.35133414C>G NCBI36
NG_007503.1:g.40496C>G , LRG_724:g.40496C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2183C>G MANE Select NP_004439.2:p.Ser728Cys
ENST00000269571.10:c.2183C>G MANE Select ENSP00000269571.4:p.Ser728Cys
NM_001005862.2:c.2093C>G , LRG_724t1:c.2093C>G NP_001005862.1:p.Ser698Cys
NM_001005862.3:c.2093C>G NP_001005862.1:p.Ser698Cys
NM_001289936.1:c.2138C>G , LRG_724t4:c.2138C>G NP_001276865.1:p.Ser713Cys
NM_001289936.2:c.2138C>G NP_001276865.1:p.Ser713Cys
NM_001289937.1:c.2183C>G NP_001276866.1:p.Ser728Cys
NM_001289937.2:c.2183C>G NP_001276866.1:p.Ser728Cys
NM_001382782.1:c.2093C>G NP_001369711.1:p.Ser698Cys
NM_001382783.1:c.2093C>G NP_001369712.1:p.Ser698Cys
NM_001382784.1:c.2300C>G NP_001369713.1:p.Ser767Cys
NM_001382785.1:c.2285C>G NP_001369714.1:p.Ser762Cys
NM_001382786.1:c.2289+11C>G NP_001369715.1:n.2289+11C>G
NM_001382787.1:c.2258C>G NP_001369716.1:p.Ser753Cys
NM_001382788.1:c.2213C>G NP_001369717.1:p.Ser738Cys
NM_001382789.1:c.2204C>G NP_001369718.1:p.Ser735Cys
NM_001382790.1:c.2180C>G NP_001369719.1:p.Ser727Cys
NM_001382791.1:c.2174C>G NP_001369720.1:p.Ser725Cys
NM_001382792.1:c.2172+11C>G NP_001369721.1:n.2172+11C>G
NM_001382793.1:c.2166+17C>G NP_001369722.1:n.2166+17C>G
NM_001382794.1:c.2141C>G NP_001369723.1:p.Ser714Cys
NM_001382795.1:c.2135C>G NP_001369724.1:p.Ser712Cys
NM_001382796.1:c.2183C>G NP_001369725.1:p.Ser728Cys
NM_001382797.1:c.2183C>G NP_001369726.1:p.Ser728Cys
NM_001382798.1:c.2183C>G NP_001369727.1:p.Ser728Cys
NM_001382799.1:c.2003C>G NP_001369728.1:p.Ser668Cys
NM_001382800.1:c.2183C>G NP_001369729.1:p.Ser728Cys
NM_001382801.1:c.2135C>G NP_001369730.1:p.Ser712Cys
NM_001382802.1:c.1925C>G NP_001369731.1:p.Ser642Cys
NM_001382803.1:c.2166+17C>G NP_001369732.1:n.2166+17C>G
NM_001382804.1:c.1355C>G NP_001369733.1:p.Ser452Cys
NM_001382805.1:c.2183C>G NP_001369734.1:p.Ser728Cys
NM_001382806.1:c.1223-329C>G NP_001369735.1:n.1223-329C>G
NM_004448.3:c.2183C>G , LRG_724t2:c.2183C>G NP_004439.2:p.Ser728Cys
NR_110535.1:n.2507C>G
NR_110535.2:n.2421C>G
ENST00000269571.9:c.2183C>G ENSP00000269571.4:p.Ser728Cys
ENST00000406381.6:c.2093C>G ENSP00000385185.2:p.Ser698Cys
ENST00000445658.6:c.1355C>G ENSP00000404047.2:p.Ser452Cys
ENST00000541774.5:c.2138C>G ENSP00000446466.1:p.Ser713Cys
ENST00000578373.5:c.*1973C>G ENSP00000463427.1:n.*1973C>G
ENST00000578630.1:n.792C>G
ENST00000580074.1:c.289C>G
ENST00000582818.5:c.490+11C>G
ENST00000583038.5:n.3317C>G
ENST00000584450.5:c.2183C>G ENSP00000463714.1:p.Ser728Cys
ENST00000584601.5:c.2093C>G ENSP00000462438.1:p.Ser698Cys
XM_024450641.1:c.2321C>G XP_024306409.1:p.Ser774Cys
XM_024450642.1:c.2276C>G XP_024306410.1:p.Ser759Cys
XM_024450643.1:c.2231C>G XP_024306411.1:p.Ser744Cys