Canonical Allele Identifier: CA399314229
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143311582

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727922G>C , CM000679.2:g.39727922G>C GRCh38
NC_000017.10:g.37884175G>C , CM000679.1:g.37884175G>C GRCh37
NC_000017.9:g.35137701G>C NCBI36
NG_007503.1:g.44783G>C , LRG_724:g.44783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3646G>C MANE Select ENSP00000269571.4:p.Ala1216Pro
ENST00000269571.9:c.3646G>C ENSP00000269571.4:p.Ala1216Pro
ENST00000406381.6:c.3556G>C ENSP00000385185.2:p.Ala1186Pro
ENST00000445658.6:c.2818G>C ENSP00000404047.2:p.Ala940Pro
ENST00000541774.5:c.3601G>C ENSP00000446466.1:p.Ala1201Pro
ENST00000578373.5:c.*3436G>C ENSP00000463427.1:n.*3436G>C
ENST00000584450.5:c.*225G>C ENSP00000463714.1:n.*225G>C
ENST00000584601.5:c.3556G>C ENSP00000462438.1:p.Ala1186Pro
NM_001005862.2:c.3556G>C , LRG_724t1:c.3556G>C NP_001005862.1:p.Ala1186Pro
NM_001289936.1:c.3601G>C , LRG_724t4:c.3601G>C NP_001276865.1:p.Ala1201Pro
NM_001289937.1:c.*225G>C NP_001276866.1:n.*225G>C
NM_004448.3:c.3646G>C , LRG_724t2:c.3646G>C NP_004439.2:p.Ala1216Pro
NR_110535.1:n.3970G>C
XM_024450641.1:c.3784G>C XP_024306409.1:p.Ala1262Pro
XM_024450642.1:c.3739G>C XP_024306410.1:p.Ala1247Pro
XM_024450643.1:c.3694G>C XP_024306411.1:p.Ala1232Pro
NM_001005862.3:c.3556G>C NP_001005862.1:p.Ala1186Pro
NM_001289936.2:c.3601G>C NP_001276865.1:p.Ala1201Pro
NM_001289937.2:c.*225G>C NP_001276866.1:n.*225G>C
NM_001382782.1:c.3556G>C NP_001369711.1:p.Ala1186Pro
NM_001382783.1:c.3556G>C NP_001369712.1:p.Ala1186Pro
NM_001382784.1:c.3763G>C NP_001369713.1:p.Ala1255Pro
NM_001382785.1:c.3748G>C NP_001369714.1:p.Ala1250Pro
NM_001382786.1:c.3727G>C NP_001369715.1:p.Ala1243Pro
NM_001382787.1:c.3721G>C NP_001369716.1:p.Ala1241Pro
NM_001382788.1:c.3676G>C NP_001369717.1:p.Ala1226Pro
NM_001382789.1:c.3667G>C NP_001369718.1:p.Ala1223Pro
NM_001382790.1:c.3643G>C NP_001369719.1:p.Ala1215Pro
NM_001382791.1:c.3637G>C NP_001369720.1:p.Ala1213Pro
NM_001382792.1:c.3610G>C NP_001369721.1:p.Ala1204Pro
NM_001382793.1:c.3604G>C NP_001369722.1:p.Ala1202Pro
NM_001382794.1:c.3604G>C NP_001369723.1:p.Ala1202Pro
NM_001382795.1:c.3598G>C NP_001369724.1:p.Ala1200Pro
NM_001382796.1:c.3559G>C NP_001369725.1:p.Ala1187Pro
NM_001382797.1:c.3547G>C NP_001369726.1:p.Ala1183Pro
NM_001382798.1:c.3490G>C NP_001369727.1:p.Ala1164Pro
NM_001382799.1:c.3466G>C NP_001369728.1:p.Ala1156Pro
NM_001382800.1:c.3460G>C NP_001369729.1:p.Ala1154Pro
NM_001382801.1:c.3442G>C NP_001369730.1:p.Ala1148Pro
NM_001382802.1:c.3388G>C NP_001369731.1:p.Ala1130Pro
NM_001382803.1:c.*225G>C NP_001369732.1:n.*225G>C
NM_001382804.1:c.2818G>C NP_001369733.1:p.Ala940Pro
NM_001382805.1:c.2695G>C NP_001369734.1:p.Ala899Pro
NM_001382806.1:c.2608G>C NP_001369735.1:p.Ala870Pro
NM_004448.4:c.3646G>C MANE Select NP_004439.2:p.Ala1216Pro
NR_110535.2:n.3884G>C