Canonical Allele Identifier: CA399310233
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143235668

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727332C>T , CM000679.2:g.39727332C>T GRCh38
NC_000017.10:g.37883585C>T , CM000679.1:g.37883585C>T GRCh37
NC_000017.9:g.35137111C>T NCBI36
NG_007503.1:g.44193C>T , LRG_724:g.44193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3197C>T MANE Select ENSP00000269571.4:p.Ser1066Phe
ENST00000269571.9:c.3197C>T ENSP00000269571.4:p.Ser1066Phe
ENST00000406381.6:c.3107C>T ENSP00000385185.2:p.Ser1036Phe
ENST00000445658.6:c.2369C>T ENSP00000404047.2:p.Ser790Phe
ENST00000541774.5:c.3152C>T ENSP00000446466.1:p.Ser1051Phe
ENST00000578373.5:c.*2987C>T ENSP00000463427.1:n.*2987C>T
ENST00000584450.5:c.3159+329C>T ENSP00000463714.1:n.3159+329C>T
ENST00000584601.5:c.3107C>T ENSP00000462438.1:p.Ser1036Phe
NM_001005862.2:c.3107C>T , LRG_724t1:c.3107C>T NP_001005862.1:p.Ser1036Phe
NM_001289936.1:c.3152C>T , LRG_724t4:c.3152C>T NP_001276865.1:p.Ser1051Phe
NM_001289937.1:c.3159+329C>T NP_001276866.1:n.3159+329C>T
NM_004448.3:c.3197C>T , LRG_724t2:c.3197C>T NP_004439.2:p.Ser1066Phe
NR_110535.1:n.3521C>T
XM_024450641.1:c.3335C>T XP_024306409.1:p.Ser1112Phe
XM_024450642.1:c.3290C>T XP_024306410.1:p.Ser1097Phe
XM_024450643.1:c.3245C>T XP_024306411.1:p.Ser1082Phe
NM_001005862.3:c.3107C>T NP_001005862.1:p.Ser1036Phe
NM_001289936.2:c.3152C>T NP_001276865.1:p.Ser1051Phe
NM_001289937.2:c.3159+329C>T NP_001276866.1:n.3159+329C>T
NM_001382782.1:c.3107C>T NP_001369711.1:p.Ser1036Phe
NM_001382783.1:c.3107C>T NP_001369712.1:p.Ser1036Phe
NM_001382784.1:c.3314C>T NP_001369713.1:p.Ser1105Phe
NM_001382785.1:c.3299C>T NP_001369714.1:p.Ser1100Phe
NM_001382786.1:c.3278C>T NP_001369715.1:p.Ser1093Phe
NM_001382787.1:c.3272C>T NP_001369716.1:p.Ser1091Phe
NM_001382788.1:c.3227C>T NP_001369717.1:p.Ser1076Phe
NM_001382789.1:c.3218C>T NP_001369718.1:p.Ser1073Phe
NM_001382790.1:c.3194C>T NP_001369719.1:p.Ser1065Phe
NM_001382791.1:c.3188C>T NP_001369720.1:p.Ser1063Phe
NM_001382792.1:c.3161C>T NP_001369721.1:p.Ser1054Phe
NM_001382793.1:c.3155C>T NP_001369722.1:p.Ser1052Phe
NM_001382794.1:c.3155C>T NP_001369723.1:p.Ser1052Phe
NM_001382795.1:c.3149C>T NP_001369724.1:p.Ser1050Phe
NM_001382796.1:c.3110C>T NP_001369725.1:p.Ser1037Phe
NM_001382797.1:c.3098C>T NP_001369726.1:p.Ser1033Phe
NM_001382798.1:c.3041C>T NP_001369727.1:p.Ser1014Phe
NM_001382799.1:c.3017C>T NP_001369728.1:p.Ser1006Phe
NM_001382800.1:c.3011C>T NP_001369729.1:p.Ser1004Phe
NM_001382801.1:c.2993C>T NP_001369730.1:p.Ser998Phe
NM_001382802.1:c.2939C>T NP_001369731.1:p.Ser980Phe
NM_001382803.1:c.3117+329C>T NP_001369732.1:n.3117+329C>T
NM_001382804.1:c.2369C>T NP_001369733.1:p.Ser790Phe
NM_001382805.1:c.2246C>T NP_001369734.1:p.Ser749Phe
NM_001382806.1:c.2159C>T NP_001369735.1:p.Ser720Phe
NM_004448.4:c.3197C>T MANE Select NP_004439.2:p.Ser1066Phe
NR_110535.2:n.3435C>T