Canonical Allele Identifier: CA399302211
Community Standard Title: NM_004448.4(ERBB2):c.2182T>G (p.Ser728Ala)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723634T>G , CM000679.2:g.39723634T>G GRCh38
NC_000017.10:g.37879887T>G , CM000679.1:g.37879887T>G GRCh37
NC_000017.9:g.35133413T>G NCBI36
NG_007503.1:g.40495T>G , LRG_724:g.40495T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2182T>G MANE Select NP_004439.2:p.Ser728Ala
ENST00000269571.10:c.2182T>G MANE Select ENSP00000269571.4:p.Ser728Ala
NM_001005862.2:c.2092T>G , LRG_724t1:c.2092T>G NP_001005862.1:p.Ser698Ala
NM_001005862.3:c.2092T>G NP_001005862.1:p.Ser698Ala
NM_001289936.1:c.2137T>G , LRG_724t4:c.2137T>G NP_001276865.1:p.Ser713Ala
NM_001289936.2:c.2137T>G NP_001276865.1:p.Ser713Ala
NM_001289937.1:c.2182T>G NP_001276866.1:p.Ser728Ala
NM_001289937.2:c.2182T>G NP_001276866.1:p.Ser728Ala
NM_001382782.1:c.2092T>G NP_001369711.1:p.Ser698Ala
NM_001382783.1:c.2092T>G NP_001369712.1:p.Ser698Ala
NM_001382784.1:c.2299T>G NP_001369713.1:p.Ser767Ala
NM_001382785.1:c.2284T>G NP_001369714.1:p.Ser762Ala
NM_001382786.1:c.2289+10T>G NP_001369715.1:n.2289+10T>G
NM_001382787.1:c.2257T>G NP_001369716.1:p.Ser753Ala
NM_001382788.1:c.2212T>G NP_001369717.1:p.Ser738Ala
NM_001382789.1:c.2203T>G NP_001369718.1:p.Ser735Ala
NM_001382790.1:c.2179T>G NP_001369719.1:p.Ser727Ala
NM_001382791.1:c.2173T>G NP_001369720.1:p.Ser725Ala
NM_001382792.1:c.2172+10T>G NP_001369721.1:n.2172+10T>G
NM_001382793.1:c.2166+16T>G NP_001369722.1:n.2166+16T>G
NM_001382794.1:c.2140T>G NP_001369723.1:p.Ser714Ala
NM_001382795.1:c.2134T>G NP_001369724.1:p.Ser712Ala
NM_001382796.1:c.2182T>G NP_001369725.1:p.Ser728Ala
NM_001382797.1:c.2182T>G NP_001369726.1:p.Ser728Ala
NM_001382798.1:c.2182T>G NP_001369727.1:p.Ser728Ala
NM_001382799.1:c.2002T>G NP_001369728.1:p.Ser668Ala
NM_001382800.1:c.2182T>G NP_001369729.1:p.Ser728Ala
NM_001382801.1:c.2134T>G NP_001369730.1:p.Ser712Ala
NM_001382802.1:c.1924T>G NP_001369731.1:p.Ser642Ala
NM_001382803.1:c.2166+16T>G NP_001369732.1:n.2166+16T>G
NM_001382804.1:c.1354T>G NP_001369733.1:p.Ser452Ala
NM_001382805.1:c.2182T>G NP_001369734.1:p.Ser728Ala
NM_001382806.1:c.1223-330T>G NP_001369735.1:n.1223-330T>G
NM_004448.3:c.2182T>G , LRG_724t2:c.2182T>G NP_004439.2:p.Ser728Ala
NR_110535.1:n.2506T>G
NR_110535.2:n.2420T>G
ENST00000269571.9:c.2182T>G ENSP00000269571.4:p.Ser728Ala
ENST00000406381.6:c.2092T>G ENSP00000385185.2:p.Ser698Ala
ENST00000445658.6:c.1354T>G ENSP00000404047.2:p.Ser452Ala
ENST00000541774.5:c.2137T>G ENSP00000446466.1:p.Ser713Ala
ENST00000578373.5:c.*1972T>G ENSP00000463427.1:n.*1972T>G
ENST00000578630.1:n.791T>G
ENST00000580074.1:c.288T>G
ENST00000582818.5:c.490+10T>G
ENST00000583038.5:n.3316T>G
ENST00000584450.5:c.2182T>G ENSP00000463714.1:p.Ser728Ala
ENST00000584601.5:c.2092T>G ENSP00000462438.1:p.Ser698Ala
XM_024450641.1:c.2320T>G XP_024306409.1:p.Ser774Ala
XM_024450642.1:c.2275T>G XP_024306410.1:p.Ser759Ala
XM_024450643.1:c.2230T>G XP_024306411.1:p.Ser744Ala