Canonical Allele Identifier: CA399302248
Community Standard Title: NM_004448.4(ERBB2):c.2188G>A (p.Ala730Thr)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723640G>A , CM000679.2:g.39723640G>A GRCh38
NC_000017.10:g.37879893G>A , CM000679.1:g.37879893G>A GRCh37
NC_000017.9:g.35133419G>A NCBI36
NG_007503.1:g.40501G>A , LRG_724:g.40501G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2188G>A MANE Select NP_004439.2:p.Ala730Thr
ENST00000269571.10:c.2188G>A MANE Select ENSP00000269571.4:p.Ala730Thr
NM_001005862.2:c.2098G>A , LRG_724t1:c.2098G>A NP_001005862.1:p.Ala700Thr
NM_001005862.3:c.2098G>A NP_001005862.1:p.Ala700Thr
NM_001289936.1:c.2143G>A , LRG_724t4:c.2143G>A NP_001276865.1:p.Ala715Thr
NM_001289936.2:c.2143G>A NP_001276865.1:p.Ala715Thr
NM_001289937.1:c.2188G>A NP_001276866.1:p.Ala730Thr
NM_001289937.2:c.2188G>A NP_001276866.1:p.Ala730Thr
NM_001382782.1:c.2098G>A NP_001369711.1:p.Ala700Thr
NM_001382783.1:c.2098G>A NP_001369712.1:p.Ala700Thr
NM_001382784.1:c.2305G>A NP_001369713.1:p.Ala769Thr
NM_001382785.1:c.2290G>A NP_001369714.1:p.Ala764Thr
NM_001382786.1:c.2289+16G>A NP_001369715.1:n.2289+16G>A
NM_001382787.1:c.2263G>A NP_001369716.1:p.Ala755Thr
NM_001382788.1:c.2218G>A NP_001369717.1:p.Ala740Thr
NM_001382789.1:c.2209G>A NP_001369718.1:p.Ala737Thr
NM_001382790.1:c.2185G>A NP_001369719.1:p.Ala729Thr
NM_001382791.1:c.2179G>A NP_001369720.1:p.Ala727Thr
NM_001382792.1:c.2172+16G>A NP_001369721.1:n.2172+16G>A
NM_001382793.1:c.2166+22G>A NP_001369722.1:n.2166+22G>A
NM_001382794.1:c.2146G>A NP_001369723.1:p.Ala716Thr
NM_001382795.1:c.2140G>A NP_001369724.1:p.Ala714Thr
NM_001382796.1:c.2188G>A NP_001369725.1:p.Ala730Thr
NM_001382797.1:c.2188G>A NP_001369726.1:p.Ala730Thr
NM_001382798.1:c.2188G>A NP_001369727.1:p.Ala730Thr
NM_001382799.1:c.2008G>A NP_001369728.1:p.Ala670Thr
NM_001382800.1:c.2188G>A NP_001369729.1:p.Ala730Thr
NM_001382801.1:c.2140G>A NP_001369730.1:p.Ala714Thr
NM_001382802.1:c.1930G>A NP_001369731.1:p.Ala644Thr
NM_001382803.1:c.2166+22G>A NP_001369732.1:n.2166+22G>A
NM_001382804.1:c.1360G>A NP_001369733.1:p.Ala454Thr
NM_001382805.1:c.2188G>A NP_001369734.1:p.Ala730Thr
NM_001382806.1:c.1223-324G>A NP_001369735.1:n.1223-324G>A
NM_004448.3:c.2188G>A , LRG_724t2:c.2188G>A NP_004439.2:p.Ala730Thr
NR_110535.1:n.2512G>A
NR_110535.2:n.2426G>A
ENST00000269571.9:c.2188G>A ENSP00000269571.4:p.Ala730Thr
ENST00000406381.6:c.2098G>A ENSP00000385185.2:p.Ala700Thr
ENST00000445658.6:c.1360G>A ENSP00000404047.2:p.Ala454Thr
ENST00000541774.5:c.2143G>A ENSP00000446466.1:p.Ala715Thr
ENST00000578373.5:c.*1978G>A ENSP00000463427.1:n.*1978G>A
ENST00000578630.1:n.797G>A
ENST00000580074.1:c.294G>A
ENST00000582818.5:c.490+16G>A
ENST00000583038.5:n.3322G>A
ENST00000584450.5:c.2188G>A ENSP00000463714.1:p.Ala730Thr
ENST00000584601.5:c.2098G>A ENSP00000462438.1:p.Ala700Thr
XM_024450641.1:c.2326G>A XP_024306409.1:p.Ala776Thr
XM_024450642.1:c.2281G>A XP_024306410.1:p.Ala761Thr
XM_024450643.1:c.2236G>A XP_024306411.1:p.Ala746Thr