Canonical Allele Identifier: CA399302223
Community Standard Title: NM_004448.4(ERBB2):c.2183C>A (p.Ser728Tyr)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2183C>A MANE Select NP_004439.2:p.Ser728Tyr
ENST00000269571.10:c.2183C>A MANE Select ENSP00000269571.4:p.Ser728Tyr
NM_001005862.2:c.2093C>A , LRG_724t1:c.2093C>A NP_001005862.1:p.Ser698Tyr
NM_001005862.3:c.2093C>A NP_001005862.1:p.Ser698Tyr
NM_001289936.1:c.2138C>A , LRG_724t4:c.2138C>A NP_001276865.1:p.Ser713Tyr
NM_001289936.2:c.2138C>A NP_001276865.1:p.Ser713Tyr
NM_001289937.1:c.2183C>A NP_001276866.1:p.Ser728Tyr
NM_001289937.2:c.2183C>A NP_001276866.1:p.Ser728Tyr
NM_001382782.1:c.2093C>A NP_001369711.1:p.Ser698Tyr
NM_001382783.1:c.2093C>A NP_001369712.1:p.Ser698Tyr
NM_001382784.1:c.2300C>A NP_001369713.1:p.Ser767Tyr
NM_001382785.1:c.2285C>A NP_001369714.1:p.Ser762Tyr
NM_001382786.1:c.2289+11C>A NP_001369715.1:n.2289+11C>A
NM_001382787.1:c.2258C>A NP_001369716.1:p.Ser753Tyr
NM_001382788.1:c.2213C>A NP_001369717.1:p.Ser738Tyr
NM_001382789.1:c.2204C>A NP_001369718.1:p.Ser735Tyr
NM_001382790.1:c.2180C>A NP_001369719.1:p.Ser727Tyr
NM_001382791.1:c.2174C>A NP_001369720.1:p.Ser725Tyr
NM_001382792.1:c.2172+11C>A NP_001369721.1:n.2172+11C>A
NM_001382793.1:c.2166+17C>A NP_001369722.1:n.2166+17C>A
NM_001382794.1:c.2141C>A NP_001369723.1:p.Ser714Tyr
NM_001382795.1:c.2135C>A NP_001369724.1:p.Ser712Tyr
NM_001382796.1:c.2183C>A NP_001369725.1:p.Ser728Tyr
NM_001382797.1:c.2183C>A NP_001369726.1:p.Ser728Tyr
NM_001382798.1:c.2183C>A NP_001369727.1:p.Ser728Tyr
NM_001382799.1:c.2003C>A NP_001369728.1:p.Ser668Tyr
NM_001382800.1:c.2183C>A NP_001369729.1:p.Ser728Tyr
NM_001382801.1:c.2135C>A NP_001369730.1:p.Ser712Tyr
NM_001382802.1:c.1925C>A NP_001369731.1:p.Ser642Tyr
NM_001382803.1:c.2166+17C>A NP_001369732.1:n.2166+17C>A
NM_001382804.1:c.1355C>A NP_001369733.1:p.Ser452Tyr
NM_001382805.1:c.2183C>A NP_001369734.1:p.Ser728Tyr
NM_001382806.1:c.1223-329C>A NP_001369735.1:n.1223-329C>A
NM_004448.3:c.2183C>A , LRG_724t2:c.2183C>A NP_004439.2:p.Ser728Tyr
NR_110535.1:n.2507C>A
NR_110535.2:n.2421C>A
ENST00000269571.9:c.2183C>A ENSP00000269571.4:p.Ser728Tyr
ENST00000406381.6:c.2093C>A ENSP00000385185.2:p.Ser698Tyr
ENST00000445658.6:c.1355C>A ENSP00000404047.2:p.Ser452Tyr
ENST00000541774.5:c.2138C>A ENSP00000446466.1:p.Ser713Tyr
ENST00000578373.5:c.*1973C>A ENSP00000463427.1:n.*1973C>A
ENST00000578630.1:n.792C>A
ENST00000580074.1:c.289C>A
ENST00000582818.5:c.490+11C>A
ENST00000583038.5:n.3317C>A
ENST00000584450.5:c.2183C>A ENSP00000463714.1:p.Ser728Tyr
ENST00000584601.5:c.2093C>A ENSP00000462438.1:p.Ser698Tyr
XM_024450641.1:c.2321C>A XP_024306409.1:p.Ser774Tyr
XM_024450642.1:c.2276C>A XP_024306410.1:p.Ser759Tyr
XM_024450643.1:c.2231C>A XP_024306411.1:p.Ser744Tyr