Canonical Allele Identifier: CA399313446
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143300349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727818T>C , CM000679.2:g.39727818T>C GRCh38
NC_000017.10:g.37884071T>C , CM000679.1:g.37884071T>C GRCh37
NC_000017.9:g.35137597T>C NCBI36
NG_007503.1:g.44679T>C , LRG_724:g.44679T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3542T>C MANE Select ENSP00000269571.4:p.Val1181Ala
ENST00000269571.9:c.3542T>C ENSP00000269571.4:p.Val1181Ala
ENST00000406381.6:c.3452T>C ENSP00000385185.2:p.Val1151Ala
ENST00000445658.6:c.2714T>C ENSP00000404047.2:p.Val905Ala
ENST00000541774.5:c.3497T>C ENSP00000446466.1:p.Val1166Ala
ENST00000578373.5:c.*3332T>C ENSP00000463427.1:n.*3332T>C
ENST00000584450.5:c.*121T>C ENSP00000463714.1:n.*121T>C
ENST00000584601.5:c.3452T>C ENSP00000462438.1:p.Val1151Ala
NM_001005862.2:c.3452T>C , LRG_724t1:c.3452T>C NP_001005862.1:p.Val1151Ala
NM_001289936.1:c.3497T>C , LRG_724t4:c.3497T>C NP_001276865.1:p.Val1166Ala
NM_001289937.1:c.*121T>C NP_001276866.1:n.*121T>C
NM_004448.3:c.3542T>C , LRG_724t2:c.3542T>C NP_004439.2:p.Val1181Ala
NR_110535.1:n.3866T>C
XM_024450641.1:c.3680T>C XP_024306409.1:p.Val1227Ala
XM_024450642.1:c.3635T>C XP_024306410.1:p.Val1212Ala
XM_024450643.1:c.3590T>C XP_024306411.1:p.Val1197Ala
NM_001005862.3:c.3452T>C NP_001005862.1:p.Val1151Ala
NM_001289936.2:c.3497T>C NP_001276865.1:p.Val1166Ala
NM_001289937.2:c.*121T>C NP_001276866.1:n.*121T>C
NM_001382782.1:c.3452T>C NP_001369711.1:p.Val1151Ala
NM_001382783.1:c.3452T>C NP_001369712.1:p.Val1151Ala
NM_001382784.1:c.3659T>C NP_001369713.1:p.Val1220Ala
NM_001382785.1:c.3644T>C NP_001369714.1:p.Val1215Ala
NM_001382786.1:c.3623T>C NP_001369715.1:p.Val1208Ala
NM_001382787.1:c.3617T>C NP_001369716.1:p.Val1206Ala
NM_001382788.1:c.3572T>C NP_001369717.1:p.Val1191Ala
NM_001382789.1:c.3563T>C NP_001369718.1:p.Val1188Ala
NM_001382790.1:c.3539T>C NP_001369719.1:p.Val1180Ala
NM_001382791.1:c.3533T>C NP_001369720.1:p.Val1178Ala
NM_001382792.1:c.3506T>C NP_001369721.1:p.Val1169Ala
NM_001382793.1:c.3500T>C NP_001369722.1:p.Val1167Ala
NM_001382794.1:c.3500T>C NP_001369723.1:p.Val1167Ala
NM_001382795.1:c.3494T>C NP_001369724.1:p.Val1165Ala
NM_001382796.1:c.3455T>C NP_001369725.1:p.Val1152Ala
NM_001382797.1:c.3443T>C NP_001369726.1:p.Val1148Ala
NM_001382798.1:c.3386T>C NP_001369727.1:p.Val1129Ala
NM_001382799.1:c.3362T>C NP_001369728.1:p.Val1121Ala
NM_001382800.1:c.3356T>C NP_001369729.1:p.Val1119Ala
NM_001382801.1:c.3338T>C NP_001369730.1:p.Val1113Ala
NM_001382802.1:c.3284T>C NP_001369731.1:p.Val1095Ala
NM_001382803.1:c.*121T>C NP_001369732.1:n.*121T>C
NM_001382804.1:c.2714T>C NP_001369733.1:p.Val905Ala
NM_001382805.1:c.2591T>C NP_001369734.1:p.Val864Ala
NM_001382806.1:c.2504T>C NP_001369735.1:p.Val835Ala
NM_004448.4:c.3542T>C MANE Select NP_004439.2:p.Val1181Ala
NR_110535.2:n.3780T>C