Canonical Allele Identifier: CA399314548
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143314909

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727962A>T , CM000679.2:g.39727962A>T GRCh38
NC_000017.10:g.37884215A>T , CM000679.1:g.37884215A>T GRCh37
NC_000017.9:g.35137741A>T NCBI36
NG_007503.1:g.44823A>T , LRG_724:g.44823A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3686A>T MANE Select ENSP00000269571.4:p.Glu1229Val
ENST00000269571.9:c.3686A>T ENSP00000269571.4:p.Glu1229Val
ENST00000406381.6:c.3596A>T ENSP00000385185.2:p.Glu1199Val
ENST00000445658.6:c.2858A>T ENSP00000404047.2:p.Glu953Val
ENST00000541774.5:c.3641A>T ENSP00000446466.1:p.Glu1214Val
ENST00000578373.5:c.*3476A>T ENSP00000463427.1:n.*3476A>T
ENST00000584450.5:c.*265A>T ENSP00000463714.1:n.*265A>T
ENST00000584601.5:c.3596A>T ENSP00000462438.1:p.Glu1199Val
NM_001005862.2:c.3596A>T , LRG_724t1:c.3596A>T NP_001005862.1:p.Glu1199Val
NM_001289936.1:c.3641A>T , LRG_724t4:c.3641A>T NP_001276865.1:p.Glu1214Val
NM_001289937.1:c.*265A>T NP_001276866.1:n.*265A>T
NM_004448.3:c.3686A>T , LRG_724t2:c.3686A>T NP_004439.2:p.Glu1229Val
NR_110535.1:n.4010A>T
XM_024450641.1:c.3824A>T XP_024306409.1:p.Glu1275Val
XM_024450642.1:c.3779A>T XP_024306410.1:p.Glu1260Val
XM_024450643.1:c.3734A>T XP_024306411.1:p.Glu1245Val
NM_001005862.3:c.3596A>T NP_001005862.1:p.Glu1199Val
NM_001289936.2:c.3641A>T NP_001276865.1:p.Glu1214Val
NM_001289937.2:c.*265A>T NP_001276866.1:n.*265A>T
NM_001382782.1:c.3596A>T NP_001369711.1:p.Glu1199Val
NM_001382783.1:c.3596A>T NP_001369712.1:p.Glu1199Val
NM_001382784.1:c.3803A>T NP_001369713.1:p.Glu1268Val
NM_001382785.1:c.3788A>T NP_001369714.1:p.Glu1263Val
NM_001382786.1:c.3767A>T NP_001369715.1:p.Glu1256Val
NM_001382787.1:c.3761A>T NP_001369716.1:p.Glu1254Val
NM_001382788.1:c.3716A>T NP_001369717.1:p.Glu1239Val
NM_001382789.1:c.3707A>T NP_001369718.1:p.Glu1236Val
NM_001382790.1:c.3683A>T NP_001369719.1:p.Glu1228Val
NM_001382791.1:c.3677A>T NP_001369720.1:p.Glu1226Val
NM_001382792.1:c.3650A>T NP_001369721.1:p.Glu1217Val
NM_001382793.1:c.3644A>T NP_001369722.1:p.Glu1215Val
NM_001382794.1:c.3644A>T NP_001369723.1:p.Glu1215Val
NM_001382795.1:c.3638A>T NP_001369724.1:p.Glu1213Val
NM_001382796.1:c.3599A>T NP_001369725.1:p.Glu1200Val
NM_001382797.1:c.3587A>T NP_001369726.1:p.Glu1196Val
NM_001382798.1:c.3530A>T NP_001369727.1:p.Glu1177Val
NM_001382799.1:c.3506A>T NP_001369728.1:p.Glu1169Val
NM_001382800.1:c.3500A>T NP_001369729.1:p.Glu1167Val
NM_001382801.1:c.3482A>T NP_001369730.1:p.Glu1161Val
NM_001382802.1:c.3428A>T NP_001369731.1:p.Glu1143Val
NM_001382803.1:c.*265A>T NP_001369732.1:n.*265A>T
NM_001382804.1:c.2858A>T NP_001369733.1:p.Glu953Val
NM_001382805.1:c.2735A>T NP_001369734.1:p.Glu912Val
NM_001382806.1:c.2648A>T NP_001369735.1:p.Glu883Val
NM_004448.4:c.3686A>T MANE Select NP_004439.2:p.Glu1229Val
NR_110535.2:n.3924A>T