Canonical Allele Identifier: CA210550
Gene: ERBB2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724744G>A , CM000679.2:g.39724744G>A GRCh38
NC_000017.10:g.37880997G>A , CM000679.1:g.37880997G>A GRCh37
NC_000017.9:g.35134523G>A NCBI36
NG_007503.1:g.41605G>A , LRG_724:g.41605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2326G>A MANE Select ENSP00000269571.4:p.Gly776Ser
ENST00000269571.9:c.2326G>A ENSP00000269571.4:p.Gly776Ser
ENST00000406381.6:c.2236G>A ENSP00000385185.2:p.Gly746Ser
ENST00000445658.6:c.1498G>A ENSP00000404047.2:p.Gly500Ser
ENST00000541774.5:c.2281G>A ENSP00000446466.1:p.Gly761Ser
ENST00000578373.5:c.*2116G>A ENSP00000463427.1:n.*2116G>A
ENST00000580074.1:c.432G>A
ENST00000583038.5:n.3460G>A
ENST00000584450.5:c.2326G>A ENSP00000463714.1:p.Gly776Ser
ENST00000584601.5:c.2236G>A ENSP00000462438.1:p.Gly746Ser
NM_001005862.2:c.2236G>A , LRG_724t1:c.2236G>A NP_001005862.1:p.Gly746Ser
NM_001289936.1:c.2281G>A , LRG_724t4:c.2281G>A NP_001276865.1:p.Gly761Ser
NM_001289937.1:c.2326G>A NP_001276866.1:p.Gly776Ser
NM_004448.3:c.2326G>A , LRG_724t2:c.2326G>A NP_004439.2:p.Gly776Ser
NR_110535.1:n.2650G>A
XM_024450641.1:c.2464G>A XP_024306409.1:p.Gly822Ser
XM_024450642.1:c.2419G>A XP_024306410.1:p.Gly807Ser
XM_024450643.1:c.2374G>A XP_024306411.1:p.Gly792Ser
NM_001005862.3:c.2236G>A NP_001005862.1:p.Gly746Ser
NM_001289936.2:c.2281G>A NP_001276865.1:p.Gly761Ser
NM_001289937.2:c.2326G>A NP_001276866.1:p.Gly776Ser
NM_001382782.1:c.2236G>A NP_001369711.1:p.Gly746Ser
NM_001382783.1:c.2236G>A NP_001369712.1:p.Gly746Ser
NM_001382784.1:c.2443G>A NP_001369713.1:p.Gly815Ser
NM_001382785.1:c.2428G>A NP_001369714.1:p.Gly810Ser
NM_001382786.1:c.2407G>A NP_001369715.1:p.Gly803Ser
NM_001382787.1:c.2401G>A NP_001369716.1:p.Gly801Ser
NM_001382788.1:c.2356G>A NP_001369717.1:p.Gly786Ser
NM_001382789.1:c.2347G>A NP_001369718.1:p.Gly783Ser
NM_001382790.1:c.2323G>A NP_001369719.1:p.Gly775Ser
NM_001382791.1:c.2317G>A NP_001369720.1:p.Gly773Ser
NM_001382792.1:c.2290G>A NP_001369721.1:p.Gly764Ser
NM_001382793.1:c.2284G>A NP_001369722.1:p.Gly762Ser
NM_001382794.1:c.2284G>A NP_001369723.1:p.Gly762Ser
NM_001382795.1:c.2278G>A NP_001369724.1:p.Gly760Ser
NM_001382796.1:c.2326G>A NP_001369725.1:p.Gly776Ser
NM_001382797.1:c.2227G>A NP_001369726.1:p.Gly743Ser
NM_001382798.1:c.2326G>A NP_001369727.1:p.Gly776Ser
NM_001382799.1:c.2146G>A NP_001369728.1:p.Gly716Ser
NM_001382800.1:c.2308-305G>A NP_001369729.1:n.2308-305G>A
NM_001382801.1:c.2278G>A NP_001369730.1:p.Gly760Ser
NM_001382802.1:c.2068G>A NP_001369731.1:p.Gly690Ser
NM_001382803.1:c.2284G>A NP_001369732.1:p.Gly762Ser
NM_001382804.1:c.1498G>A NP_001369733.1:p.Gly500Ser
NM_001382805.1:c.2208+1084G>A NP_001369734.1:n.2208+1084G>A
NM_001382806.1:c.1288G>A NP_001369735.1:p.Gly430Ser
NM_004448.4:c.2326G>A MANE Select NP_004439.2:p.Gly776Ser
NR_110535.2:n.2564G>A