Canonical Allele Identifier: CA399303043
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145849276

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724781T>C , CM000679.2:g.39724781T>C GRCh38
NC_000017.10:g.37881034T>C , CM000679.1:g.37881034T>C GRCh37
NC_000017.9:g.35134560T>C NCBI36
NG_007503.1:g.41642T>C , LRG_724:g.41642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2363T>C MANE Select ENSP00000269571.4:p.Ile788Thr
ENST00000269571.9:c.2363T>C ENSP00000269571.4:p.Ile788Thr
ENST00000406381.6:c.2273T>C ENSP00000385185.2:p.Ile758Thr
ENST00000445658.6:c.1535T>C ENSP00000404047.2:p.Ile512Thr
ENST00000541774.5:c.2318T>C ENSP00000446466.1:p.Ile773Thr
ENST00000578373.5:c.*2153T>C ENSP00000463427.1:n.*2153T>C
ENST00000580074.1:c.469T>C
ENST00000583038.5:n.3497T>C
ENST00000584450.5:c.2363T>C ENSP00000463714.1:p.Ile788Thr
ENST00000584601.5:c.2273T>C ENSP00000462438.1:p.Ile758Thr
NM_001005862.2:c.2273T>C , LRG_724t1:c.2273T>C NP_001005862.1:p.Ile758Thr
NM_001289936.1:c.2318T>C , LRG_724t4:c.2318T>C NP_001276865.1:p.Ile773Thr
NM_001289937.1:c.2363T>C NP_001276866.1:p.Ile788Thr
NM_004448.3:c.2363T>C , LRG_724t2:c.2363T>C NP_004439.2:p.Ile788Thr
NR_110535.1:n.2687T>C
XM_024450641.1:c.2501T>C XP_024306409.1:p.Ile834Thr
XM_024450642.1:c.2456T>C XP_024306410.1:p.Ile819Thr
XM_024450643.1:c.2411T>C XP_024306411.1:p.Ile804Thr
NM_001005862.3:c.2273T>C NP_001005862.1:p.Ile758Thr
NM_001289936.2:c.2318T>C NP_001276865.1:p.Ile773Thr
NM_001289937.2:c.2363T>C NP_001276866.1:p.Ile788Thr
NM_001382782.1:c.2273T>C NP_001369711.1:p.Ile758Thr
NM_001382783.1:c.2273T>C NP_001369712.1:p.Ile758Thr
NM_001382784.1:c.2480T>C NP_001369713.1:p.Ile827Thr
NM_001382785.1:c.2465T>C NP_001369714.1:p.Ile822Thr
NM_001382786.1:c.2444T>C NP_001369715.1:p.Ile815Thr
NM_001382787.1:c.2438T>C NP_001369716.1:p.Ile813Thr
NM_001382788.1:c.2393T>C NP_001369717.1:p.Ile798Thr
NM_001382789.1:c.2384T>C NP_001369718.1:p.Ile795Thr
NM_001382790.1:c.2360T>C NP_001369719.1:p.Ile787Thr
NM_001382791.1:c.2354T>C NP_001369720.1:p.Ile785Thr
NM_001382792.1:c.2327T>C NP_001369721.1:p.Ile776Thr
NM_001382793.1:c.2321T>C NP_001369722.1:p.Ile774Thr
NM_001382794.1:c.2321T>C NP_001369723.1:p.Ile774Thr
NM_001382795.1:c.2315T>C NP_001369724.1:p.Ile772Thr
NM_001382796.1:c.2363T>C NP_001369725.1:p.Ile788Thr
NM_001382797.1:c.2264T>C NP_001369726.1:p.Ile755Thr
NM_001382798.1:c.2363T>C NP_001369727.1:p.Ile788Thr
NM_001382799.1:c.2183T>C NP_001369728.1:p.Ile728Thr
NM_001382800.1:c.2308-268T>C NP_001369729.1:n.2308-268T>C
NM_001382801.1:c.2315T>C NP_001369730.1:p.Ile772Thr
NM_001382802.1:c.2105T>C NP_001369731.1:p.Ile702Thr
NM_001382803.1:c.2321T>C NP_001369732.1:p.Ile774Thr
NM_001382804.1:c.1535T>C NP_001369733.1:p.Ile512Thr
NM_001382805.1:c.2208+1121T>C NP_001369734.1:n.2208+1121T>C
NM_001382806.1:c.1325T>C NP_001369735.1:p.Ile442Thr
NM_004448.4:c.2363T>C MANE Select NP_004439.2:p.Ile788Thr
NR_110535.2:n.2601T>C