Canonical Allele Identifier: CA399310508
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143241944

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727383C>A , CM000679.2:g.39727383C>A GRCh38
NC_000017.10:g.37883636C>A , CM000679.1:g.37883636C>A GRCh37
NC_000017.9:g.35137162C>A NCBI36
NG_007503.1:g.44244C>A , LRG_724:g.44244C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3248C>A MANE Select ENSP00000269571.4:p.Ser1083Tyr
ENST00000269571.9:c.3248C>A ENSP00000269571.4:p.Ser1083Tyr
ENST00000406381.6:c.3158C>A ENSP00000385185.2:p.Ser1053Tyr
ENST00000445658.6:c.2420C>A ENSP00000404047.2:p.Ser807Tyr
ENST00000541774.5:c.3203C>A ENSP00000446466.1:p.Ser1068Tyr
ENST00000578373.5:c.*3038C>A ENSP00000463427.1:n.*3038C>A
ENST00000584450.5:c.3160-306C>A ENSP00000463714.1:n.3160-306C>A
ENST00000584601.5:c.3158C>A ENSP00000462438.1:p.Ser1053Tyr
NM_001005862.2:c.3158C>A , LRG_724t1:c.3158C>A NP_001005862.1:p.Ser1053Tyr
NM_001289936.1:c.3203C>A , LRG_724t4:c.3203C>A NP_001276865.1:p.Ser1068Tyr
NM_001289937.1:c.3160-306C>A NP_001276866.1:n.3160-306C>A
NM_004448.3:c.3248C>A , LRG_724t2:c.3248C>A NP_004439.2:p.Ser1083Tyr
NR_110535.1:n.3572C>A
XM_024450641.1:c.3386C>A XP_024306409.1:p.Ser1129Tyr
XM_024450642.1:c.3341C>A XP_024306410.1:p.Ser1114Tyr
XM_024450643.1:c.3296C>A XP_024306411.1:p.Ser1099Tyr
NM_001005862.3:c.3158C>A NP_001005862.1:p.Ser1053Tyr
NM_001289936.2:c.3203C>A NP_001276865.1:p.Ser1068Tyr
NM_001289937.2:c.3160-306C>A NP_001276866.1:n.3160-306C>A
NM_001382782.1:c.3158C>A NP_001369711.1:p.Ser1053Tyr
NM_001382783.1:c.3158C>A NP_001369712.1:p.Ser1053Tyr
NM_001382784.1:c.3365C>A NP_001369713.1:p.Ser1122Tyr
NM_001382785.1:c.3350C>A NP_001369714.1:p.Ser1117Tyr
NM_001382786.1:c.3329C>A NP_001369715.1:p.Ser1110Tyr
NM_001382787.1:c.3323C>A NP_001369716.1:p.Ser1108Tyr
NM_001382788.1:c.3278C>A NP_001369717.1:p.Ser1093Tyr
NM_001382789.1:c.3269C>A NP_001369718.1:p.Ser1090Tyr
NM_001382790.1:c.3245C>A NP_001369719.1:p.Ser1082Tyr
NM_001382791.1:c.3239C>A NP_001369720.1:p.Ser1080Tyr
NM_001382792.1:c.3212C>A NP_001369721.1:p.Ser1071Tyr
NM_001382793.1:c.3206C>A NP_001369722.1:p.Ser1069Tyr
NM_001382794.1:c.3206C>A NP_001369723.1:p.Ser1069Tyr
NM_001382795.1:c.3200C>A NP_001369724.1:p.Ser1067Tyr
NM_001382796.1:c.3161C>A NP_001369725.1:p.Ser1054Tyr
NM_001382797.1:c.3149C>A NP_001369726.1:p.Ser1050Tyr
NM_001382798.1:c.3092C>A NP_001369727.1:p.Ser1031Tyr
NM_001382799.1:c.3068C>A NP_001369728.1:p.Ser1023Tyr
NM_001382800.1:c.3062C>A NP_001369729.1:p.Ser1021Tyr
NM_001382801.1:c.3044C>A NP_001369730.1:p.Ser1015Tyr
NM_001382802.1:c.2990C>A NP_001369731.1:p.Ser997Tyr
NM_001382803.1:c.3118-306C>A NP_001369732.1:n.3118-306C>A
NM_001382804.1:c.2420C>A NP_001369733.1:p.Ser807Tyr
NM_001382805.1:c.2297C>A NP_001369734.1:p.Ser766Tyr
NM_001382806.1:c.2210C>A NP_001369735.1:p.Ser737Tyr
NM_004448.4:c.3248C>A MANE Select NP_004439.2:p.Ser1083Tyr
NR_110535.2:n.3486C>A