Canonical Allele Identifier: CA399313508
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs761715861

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727826G>C , CM000679.2:g.39727826G>C GRCh38
NC_000017.10:g.37884079G>C , CM000679.1:g.37884079G>C GRCh37
NC_000017.9:g.35137605G>C NCBI36
NG_007503.1:g.44687G>C , LRG_724:g.44687G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3550G>C MANE Select ENSP00000269571.4:p.Val1184Leu
ENST00000269571.9:c.3550G>C ENSP00000269571.4:p.Val1184Leu
ENST00000406381.6:c.3460G>C ENSP00000385185.2:p.Val1154Leu
ENST00000445658.6:c.2722G>C ENSP00000404047.2:p.Val908Leu
ENST00000541774.5:c.3505G>C ENSP00000446466.1:p.Val1169Leu
ENST00000578373.5:c.*3340G>C ENSP00000463427.1:n.*3340G>C
ENST00000584450.5:c.*129G>C ENSP00000463714.1:n.*129G>C
ENST00000584601.5:c.3460G>C ENSP00000462438.1:p.Val1154Leu
NM_001005862.2:c.3460G>C , LRG_724t1:c.3460G>C NP_001005862.1:p.Val1154Leu
NM_001289936.1:c.3505G>C , LRG_724t4:c.3505G>C NP_001276865.1:p.Val1169Leu
NM_001289937.1:c.*129G>C NP_001276866.1:n.*129G>C
NM_004448.3:c.3550G>C , LRG_724t2:c.3550G>C NP_004439.2:p.Val1184Leu
NR_110535.1:n.3874G>C
XM_024450641.1:c.3688G>C XP_024306409.1:p.Val1230Leu
XM_024450642.1:c.3643G>C XP_024306410.1:p.Val1215Leu
XM_024450643.1:c.3598G>C XP_024306411.1:p.Val1200Leu
NM_001005862.3:c.3460G>C NP_001005862.1:p.Val1154Leu
NM_001289936.2:c.3505G>C NP_001276865.1:p.Val1169Leu
NM_001289937.2:c.*129G>C NP_001276866.1:n.*129G>C
NM_001382782.1:c.3460G>C NP_001369711.1:p.Val1154Leu
NM_001382783.1:c.3460G>C NP_001369712.1:p.Val1154Leu
NM_001382784.1:c.3667G>C NP_001369713.1:p.Val1223Leu
NM_001382785.1:c.3652G>C NP_001369714.1:p.Val1218Leu
NM_001382786.1:c.3631G>C NP_001369715.1:p.Val1211Leu
NM_001382787.1:c.3625G>C NP_001369716.1:p.Val1209Leu
NM_001382788.1:c.3580G>C NP_001369717.1:p.Val1194Leu
NM_001382789.1:c.3571G>C NP_001369718.1:p.Val1191Leu
NM_001382790.1:c.3547G>C NP_001369719.1:p.Val1183Leu
NM_001382791.1:c.3541G>C NP_001369720.1:p.Val1181Leu
NM_001382792.1:c.3514G>C NP_001369721.1:p.Val1172Leu
NM_001382793.1:c.3508G>C NP_001369722.1:p.Val1170Leu
NM_001382794.1:c.3508G>C NP_001369723.1:p.Val1170Leu
NM_001382795.1:c.3502G>C NP_001369724.1:p.Val1168Leu
NM_001382796.1:c.3463G>C NP_001369725.1:p.Val1155Leu
NM_001382797.1:c.3451G>C NP_001369726.1:p.Val1151Leu
NM_001382798.1:c.3394G>C NP_001369727.1:p.Val1132Leu
NM_001382799.1:c.3370G>C NP_001369728.1:p.Val1124Leu
NM_001382800.1:c.3364G>C NP_001369729.1:p.Val1122Leu
NM_001382801.1:c.3346G>C NP_001369730.1:p.Val1116Leu
NM_001382802.1:c.3292G>C NP_001369731.1:p.Val1098Leu
NM_001382803.1:c.*129G>C NP_001369732.1:n.*129G>C
NM_001382804.1:c.2722G>C NP_001369733.1:p.Val908Leu
NM_001382805.1:c.2599G>C NP_001369734.1:p.Val867Leu
NM_001382806.1:c.2512G>C NP_001369735.1:p.Val838Leu
NM_004448.4:c.3550G>C MANE Select NP_004439.2:p.Val1184Leu
NR_110535.2:n.3788G>C