Canonical Allele Identifier: CA399314323
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs1656652862

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727934C>A , CM000679.2:g.39727934C>A GRCh38
NC_000017.10:g.37884187C>A , CM000679.1:g.37884187C>A GRCh37
NC_000017.9:g.35137713C>A NCBI36
NG_007503.1:g.44795C>A , LRG_724:g.44795C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3658C>A MANE Select ENSP00000269571.4:p.Leu1220Ile
ENST00000269571.9:c.3658C>A ENSP00000269571.4:p.Leu1220Ile
ENST00000406381.6:c.3568C>A ENSP00000385185.2:p.Leu1190Ile
ENST00000445658.6:c.2830C>A ENSP00000404047.2:p.Leu944Ile
ENST00000541774.5:c.3613C>A ENSP00000446466.1:p.Leu1205Ile
ENST00000578373.5:c.*3448C>A ENSP00000463427.1:n.*3448C>A
ENST00000584450.5:c.*237C>A ENSP00000463714.1:n.*237C>A
ENST00000584601.5:c.3568C>A ENSP00000462438.1:p.Leu1190Ile
NM_001005862.2:c.3568C>A , LRG_724t1:c.3568C>A NP_001005862.1:p.Leu1190Ile
NM_001289936.1:c.3613C>A , LRG_724t4:c.3613C>A NP_001276865.1:p.Leu1205Ile
NM_001289937.1:c.*237C>A NP_001276866.1:n.*237C>A
NM_004448.3:c.3658C>A , LRG_724t2:c.3658C>A NP_004439.2:p.Leu1220Ile
NR_110535.1:n.3982C>A
XM_024450641.1:c.3796C>A XP_024306409.1:p.Leu1266Ile
XM_024450642.1:c.3751C>A XP_024306410.1:p.Leu1251Ile
XM_024450643.1:c.3706C>A XP_024306411.1:p.Leu1236Ile
NM_001005862.3:c.3568C>A NP_001005862.1:p.Leu1190Ile
NM_001289936.2:c.3613C>A NP_001276865.1:p.Leu1205Ile
NM_001289937.2:c.*237C>A NP_001276866.1:n.*237C>A
NM_001382782.1:c.3568C>A NP_001369711.1:p.Leu1190Ile
NM_001382783.1:c.3568C>A NP_001369712.1:p.Leu1190Ile
NM_001382784.1:c.3775C>A NP_001369713.1:p.Leu1259Ile
NM_001382785.1:c.3760C>A NP_001369714.1:p.Leu1254Ile
NM_001382786.1:c.3739C>A NP_001369715.1:p.Leu1247Ile
NM_001382787.1:c.3733C>A NP_001369716.1:p.Leu1245Ile
NM_001382788.1:c.3688C>A NP_001369717.1:p.Leu1230Ile
NM_001382789.1:c.3679C>A NP_001369718.1:p.Leu1227Ile
NM_001382790.1:c.3655C>A NP_001369719.1:p.Leu1219Ile
NM_001382791.1:c.3649C>A NP_001369720.1:p.Leu1217Ile
NM_001382792.1:c.3622C>A NP_001369721.1:p.Leu1208Ile
NM_001382793.1:c.3616C>A NP_001369722.1:p.Leu1206Ile
NM_001382794.1:c.3616C>A NP_001369723.1:p.Leu1206Ile
NM_001382795.1:c.3610C>A NP_001369724.1:p.Leu1204Ile
NM_001382796.1:c.3571C>A NP_001369725.1:p.Leu1191Ile
NM_001382797.1:c.3559C>A NP_001369726.1:p.Leu1187Ile
NM_001382798.1:c.3502C>A NP_001369727.1:p.Leu1168Ile
NM_001382799.1:c.3478C>A NP_001369728.1:p.Leu1160Ile
NM_001382800.1:c.3472C>A NP_001369729.1:p.Leu1158Ile
NM_001382801.1:c.3454C>A NP_001369730.1:p.Leu1152Ile
NM_001382802.1:c.3400C>A NP_001369731.1:p.Leu1134Ile
NM_001382803.1:c.*237C>A NP_001369732.1:n.*237C>A
NM_001382804.1:c.2830C>A NP_001369733.1:p.Leu944Ile
NM_001382805.1:c.2707C>A NP_001369734.1:p.Leu903Ile
NM_001382806.1:c.2620C>A NP_001369735.1:p.Leu874Ile
NM_004448.4:c.3658C>A MANE Select NP_004439.2:p.Leu1220Ile
NR_110535.2:n.3896C>A