Canonical Allele Identifier: CA399303242
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145850413

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724811C>T , CM000679.2:g.39724811C>T GRCh38
NC_000017.10:g.37881064C>T , CM000679.1:g.37881064C>T GRCh37
NC_000017.9:g.35134590C>T NCBI36
NG_007503.1:g.41672C>T , LRG_724:g.41672C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2393C>T MANE Select ENSP00000269571.4:p.Thr798Ile
ENST00000269571.9:c.2393C>T ENSP00000269571.4:p.Thr798Ile
ENST00000406381.6:c.2303C>T ENSP00000385185.2:p.Thr768Ile
ENST00000445658.6:c.1565C>T ENSP00000404047.2:p.Thr522Ile
ENST00000541774.5:c.2348C>T ENSP00000446466.1:p.Thr783Ile
ENST00000578373.5:c.*2183C>T ENSP00000463427.1:n.*2183C>T
ENST00000580074.1:c.499C>T
ENST00000583038.5:n.3527C>T
ENST00000584450.5:c.2393C>T ENSP00000463714.1:p.Thr798Ile
ENST00000584601.5:c.2303C>T ENSP00000462438.1:p.Thr768Ile
NM_001005862.2:c.2303C>T , LRG_724t1:c.2303C>T NP_001005862.1:p.Thr768Ile
NM_001289936.1:c.2348C>T , LRG_724t4:c.2348C>T NP_001276865.1:p.Thr783Ile
NM_001289937.1:c.2393C>T NP_001276866.1:p.Thr798Ile
NM_004448.3:c.2393C>T , LRG_724t2:c.2393C>T NP_004439.2:p.Thr798Ile
NR_110535.1:n.2717C>T
XM_024450641.1:c.2531C>T XP_024306409.1:p.Thr844Ile
XM_024450642.1:c.2486C>T XP_024306410.1:p.Thr829Ile
XM_024450643.1:c.2441C>T XP_024306411.1:p.Thr814Ile
NM_001005862.3:c.2303C>T NP_001005862.1:p.Thr768Ile
NM_001289936.2:c.2348C>T NP_001276865.1:p.Thr783Ile
NM_001289937.2:c.2393C>T NP_001276866.1:p.Thr798Ile
NM_001382782.1:c.2303C>T NP_001369711.1:p.Thr768Ile
NM_001382783.1:c.2303C>T NP_001369712.1:p.Thr768Ile
NM_001382784.1:c.2510C>T NP_001369713.1:p.Thr837Ile
NM_001382785.1:c.2495C>T NP_001369714.1:p.Thr832Ile
NM_001382786.1:c.2474C>T NP_001369715.1:p.Thr825Ile
NM_001382787.1:c.2468C>T NP_001369716.1:p.Thr823Ile
NM_001382788.1:c.2423C>T NP_001369717.1:p.Thr808Ile
NM_001382789.1:c.2414C>T NP_001369718.1:p.Thr805Ile
NM_001382790.1:c.2390C>T NP_001369719.1:p.Thr797Ile
NM_001382791.1:c.2384C>T NP_001369720.1:p.Thr795Ile
NM_001382792.1:c.2357C>T NP_001369721.1:p.Thr786Ile
NM_001382793.1:c.2351C>T NP_001369722.1:p.Thr784Ile
NM_001382794.1:c.2351C>T NP_001369723.1:p.Thr784Ile
NM_001382795.1:c.2345C>T NP_001369724.1:p.Thr782Ile
NM_001382796.1:c.2393C>T NP_001369725.1:p.Thr798Ile
NM_001382797.1:c.2294C>T NP_001369726.1:p.Thr765Ile
NM_001382798.1:c.2393C>T NP_001369727.1:p.Thr798Ile
NM_001382799.1:c.2213C>T NP_001369728.1:p.Thr738Ile
NM_001382800.1:c.2308-238C>T NP_001369729.1:n.2308-238C>T
NM_001382801.1:c.2345C>T NP_001369730.1:p.Thr782Ile
NM_001382802.1:c.2135C>T NP_001369731.1:p.Thr712Ile
NM_001382803.1:c.2351C>T NP_001369732.1:p.Thr784Ile
NM_001382804.1:c.1565C>T NP_001369733.1:p.Thr522Ile
NM_001382805.1:c.2208+1151C>T NP_001369734.1:n.2208+1151C>T
NM_001382806.1:c.1355C>T NP_001369735.1:p.Thr452Ile
NM_004448.4:c.2393C>T MANE Select NP_004439.2:p.Thr798Ile
NR_110535.2:n.2631C>T