Canonical Allele Identifier: CA399312872
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143288950

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727715C>G , CM000679.2:g.39727715C>G GRCh38
NC_000017.10:g.37883968C>G , CM000679.1:g.37883968C>G GRCh37
NC_000017.9:g.35137494C>G NCBI36
NG_007503.1:g.44576C>G , LRG_724:g.44576C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3439C>G MANE Select ENSP00000269571.4:p.Pro1147Ala
ENST00000269571.9:c.3439C>G ENSP00000269571.4:p.Pro1147Ala
ENST00000406381.6:c.3349C>G ENSP00000385185.2:p.Pro1117Ala
ENST00000445658.6:c.2611C>G ENSP00000404047.2:p.Pro871Ala
ENST00000541774.5:c.3394C>G ENSP00000446466.1:p.Pro1132Ala
ENST00000578373.5:c.*3229C>G ENSP00000463427.1:n.*3229C>G
ENST00000584450.5:c.*18C>G ENSP00000463714.1:n.*18C>G
ENST00000584601.5:c.3349C>G ENSP00000462438.1:p.Pro1117Ala
NM_001005862.2:c.3349C>G , LRG_724t1:c.3349C>G NP_001005862.1:p.Pro1117Ala
NM_001289936.1:c.3394C>G , LRG_724t4:c.3394C>G NP_001276865.1:p.Pro1132Ala
NM_001289937.1:c.*18C>G NP_001276866.1:n.*18C>G
NM_004448.3:c.3439C>G , LRG_724t2:c.3439C>G NP_004439.2:p.Pro1147Ala
NR_110535.1:n.3763C>G
XM_024450641.1:c.3577C>G XP_024306409.1:p.Pro1193Ala
XM_024450642.1:c.3532C>G XP_024306410.1:p.Pro1178Ala
XM_024450643.1:c.3487C>G XP_024306411.1:p.Pro1163Ala
NM_001005862.3:c.3349C>G NP_001005862.1:p.Pro1117Ala
NM_001289936.2:c.3394C>G NP_001276865.1:p.Pro1132Ala
NM_001289937.2:c.*18C>G NP_001276866.1:n.*18C>G
NM_001382782.1:c.3349C>G NP_001369711.1:p.Pro1117Ala
NM_001382783.1:c.3349C>G NP_001369712.1:p.Pro1117Ala
NM_001382784.1:c.3556C>G NP_001369713.1:p.Pro1186Ala
NM_001382785.1:c.3541C>G NP_001369714.1:p.Pro1181Ala
NM_001382786.1:c.3520C>G NP_001369715.1:p.Pro1174Ala
NM_001382787.1:c.3514C>G NP_001369716.1:p.Pro1172Ala
NM_001382788.1:c.3469C>G NP_001369717.1:p.Pro1157Ala
NM_001382789.1:c.3460C>G NP_001369718.1:p.Pro1154Ala
NM_001382790.1:c.3436C>G NP_001369719.1:p.Pro1146Ala
NM_001382791.1:c.3430C>G NP_001369720.1:p.Pro1144Ala
NM_001382792.1:c.3403C>G NP_001369721.1:p.Pro1135Ala
NM_001382793.1:c.3397C>G NP_001369722.1:p.Pro1133Ala
NM_001382794.1:c.3397C>G NP_001369723.1:p.Pro1133Ala
NM_001382795.1:c.3391C>G NP_001369724.1:p.Pro1131Ala
NM_001382796.1:c.3352C>G NP_001369725.1:p.Pro1118Ala
NM_001382797.1:c.3340C>G NP_001369726.1:p.Pro1114Ala
NM_001382798.1:c.3283C>G NP_001369727.1:p.Pro1095Ala
NM_001382799.1:c.3259C>G NP_001369728.1:p.Pro1087Ala
NM_001382800.1:c.3253C>G NP_001369729.1:p.Pro1085Ala
NM_001382801.1:c.3235C>G NP_001369730.1:p.Pro1079Ala
NM_001382802.1:c.3181C>G NP_001369731.1:p.Pro1061Ala
NM_001382803.1:c.*18C>G NP_001369732.1:n.*18C>G
NM_001382804.1:c.2611C>G NP_001369733.1:p.Pro871Ala
NM_001382805.1:c.2488C>G NP_001369734.1:p.Pro830Ala
NM_001382806.1:c.2401C>G NP_001369735.1:p.Pro801Ala
NM_004448.4:c.3439C>G MANE Select NP_004439.2:p.Pro1147Ala
NR_110535.2:n.3677C>G