Canonical Allele Identifier: CA399302210
Community Standard Title: NM_004448.4(ERBB2):c.2182T>C (p.Ser728Pro)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2182T>C MANE Select NP_004439.2:p.Ser728Pro
ENST00000269571.10:c.2182T>C MANE Select ENSP00000269571.4:p.Ser728Pro
NM_001005862.2:c.2092T>C , LRG_724t1:c.2092T>C NP_001005862.1:p.Ser698Pro
NM_001005862.3:c.2092T>C NP_001005862.1:p.Ser698Pro
NM_001289936.1:c.2137T>C , LRG_724t4:c.2137T>C NP_001276865.1:p.Ser713Pro
NM_001289936.2:c.2137T>C NP_001276865.1:p.Ser713Pro
NM_001289937.1:c.2182T>C NP_001276866.1:p.Ser728Pro
NM_001289937.2:c.2182T>C NP_001276866.1:p.Ser728Pro
NM_001382782.1:c.2092T>C NP_001369711.1:p.Ser698Pro
NM_001382783.1:c.2092T>C NP_001369712.1:p.Ser698Pro
NM_001382784.1:c.2299T>C NP_001369713.1:p.Ser767Pro
NM_001382785.1:c.2284T>C NP_001369714.1:p.Ser762Pro
NM_001382786.1:c.2289+10T>C NP_001369715.1:n.2289+10T>C
NM_001382787.1:c.2257T>C NP_001369716.1:p.Ser753Pro
NM_001382788.1:c.2212T>C NP_001369717.1:p.Ser738Pro
NM_001382789.1:c.2203T>C NP_001369718.1:p.Ser735Pro
NM_001382790.1:c.2179T>C NP_001369719.1:p.Ser727Pro
NM_001382791.1:c.2173T>C NP_001369720.1:p.Ser725Pro
NM_001382792.1:c.2172+10T>C NP_001369721.1:n.2172+10T>C
NM_001382793.1:c.2166+16T>C NP_001369722.1:n.2166+16T>C
NM_001382794.1:c.2140T>C NP_001369723.1:p.Ser714Pro
NM_001382795.1:c.2134T>C NP_001369724.1:p.Ser712Pro
NM_001382796.1:c.2182T>C NP_001369725.1:p.Ser728Pro
NM_001382797.1:c.2182T>C NP_001369726.1:p.Ser728Pro
NM_001382798.1:c.2182T>C NP_001369727.1:p.Ser728Pro
NM_001382799.1:c.2002T>C NP_001369728.1:p.Ser668Pro
NM_001382800.1:c.2182T>C NP_001369729.1:p.Ser728Pro
NM_001382801.1:c.2134T>C NP_001369730.1:p.Ser712Pro
NM_001382802.1:c.1924T>C NP_001369731.1:p.Ser642Pro
NM_001382803.1:c.2166+16T>C NP_001369732.1:n.2166+16T>C
NM_001382804.1:c.1354T>C NP_001369733.1:p.Ser452Pro
NM_001382805.1:c.2182T>C NP_001369734.1:p.Ser728Pro
NM_001382806.1:c.1223-330T>C NP_001369735.1:n.1223-330T>C
NM_004448.3:c.2182T>C , LRG_724t2:c.2182T>C NP_004439.2:p.Ser728Pro
NR_110535.1:n.2506T>C
NR_110535.2:n.2420T>C
ENST00000269571.9:c.2182T>C ENSP00000269571.4:p.Ser728Pro
ENST00000406381.6:c.2092T>C ENSP00000385185.2:p.Ser698Pro
ENST00000445658.6:c.1354T>C ENSP00000404047.2:p.Ser452Pro
ENST00000541774.5:c.2137T>C ENSP00000446466.1:p.Ser713Pro
ENST00000578373.5:c.*1972T>C ENSP00000463427.1:n.*1972T>C
ENST00000578630.1:n.791T>C
ENST00000580074.1:c.288T>C
ENST00000582818.5:c.490+10T>C
ENST00000583038.5:n.3316T>C
ENST00000584450.5:c.2182T>C ENSP00000463714.1:p.Ser728Pro
ENST00000584601.5:c.2092T>C ENSP00000462438.1:p.Ser698Pro
XM_024450641.1:c.2320T>C XP_024306409.1:p.Ser774Pro
XM_024450642.1:c.2275T>C XP_024306410.1:p.Ser759Pro
XM_024450643.1:c.2230T>C XP_024306411.1:p.Ser744Pro