Canonical Allele Identifier: CA399302982
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs1057519857

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724772T>G , CM000679.2:g.39724772T>G GRCh38
NC_000017.10:g.37881025T>G , CM000679.1:g.37881025T>G GRCh37
NC_000017.9:g.35134551T>G NCBI36
NG_007503.1:g.41633T>G , LRG_724:g.41633T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000269571.10:c.2354T>G MANE Select ENSP00000269571.4:p.Leu785Arg
ENST00000269571.9:c.2354T>G ENSP00000269571.4:p.Leu785Arg
ENST00000406381.6:c.2264T>G ENSP00000385185.2:p.Leu755Arg
ENST00000445658.6:c.1526T>G ENSP00000404047.2:p.Leu509Arg
ENST00000541774.5:c.2309T>G ENSP00000446466.1:p.Leu770Arg
ENST00000578373.5:c.*2144T>G ENSP00000463427.1:n.*2144T>G
ENST00000580074.1:c.460T>G
ENST00000583038.5:n.3488T>G
ENST00000584450.5:c.2354T>G ENSP00000463714.1:p.Leu785Arg
ENST00000584601.5:c.2264T>G ENSP00000462438.1:p.Leu755Arg
NM_001005862.2:c.2264T>G , LRG_724t1:c.2264T>G NP_001005862.1:p.Leu755Arg
NM_001289936.1:c.2309T>G , LRG_724t4:c.2309T>G NP_001276865.1:p.Leu770Arg
NM_001289937.1:c.2354T>G NP_001276866.1:p.Leu785Arg
NM_004448.3:c.2354T>G , LRG_724t2:c.2354T>G NP_004439.2:p.Leu785Arg
NR_110535.1:n.2678T>G
XM_024450641.1:c.2492T>G XP_024306409.1:p.Leu831Arg
XM_024450642.1:c.2447T>G XP_024306410.1:p.Leu816Arg
XM_024450643.1:c.2402T>G XP_024306411.1:p.Leu801Arg
NM_001005862.3:c.2264T>G NP_001005862.1:p.Leu755Arg
NM_001289936.2:c.2309T>G NP_001276865.1:p.Leu770Arg
NM_001289937.2:c.2354T>G NP_001276866.1:p.Leu785Arg
NM_001382782.1:c.2264T>G NP_001369711.1:p.Leu755Arg
NM_001382783.1:c.2264T>G NP_001369712.1:p.Leu755Arg
NM_001382784.1:c.2471T>G NP_001369713.1:p.Leu824Arg
NM_001382785.1:c.2456T>G NP_001369714.1:p.Leu819Arg
NM_001382786.1:c.2435T>G NP_001369715.1:p.Leu812Arg
NM_001382787.1:c.2429T>G NP_001369716.1:p.Leu810Arg
NM_001382788.1:c.2384T>G NP_001369717.1:p.Leu795Arg
NM_001382789.1:c.2375T>G NP_001369718.1:p.Leu792Arg
NM_001382790.1:c.2351T>G NP_001369719.1:p.Leu784Arg
NM_001382791.1:c.2345T>G NP_001369720.1:p.Leu782Arg
NM_001382792.1:c.2318T>G NP_001369721.1:p.Leu773Arg
NM_001382793.1:c.2312T>G NP_001369722.1:p.Leu771Arg
NM_001382794.1:c.2312T>G NP_001369723.1:p.Leu771Arg
NM_001382795.1:c.2306T>G NP_001369724.1:p.Leu769Arg
NM_001382796.1:c.2354T>G NP_001369725.1:p.Leu785Arg
NM_001382797.1:c.2255T>G NP_001369726.1:p.Leu752Arg
NM_001382798.1:c.2354T>G NP_001369727.1:p.Leu785Arg
NM_001382799.1:c.2174T>G NP_001369728.1:p.Leu725Arg
NM_001382800.1:c.2308-277T>G NP_001369729.1:n.2308-277T>G
NM_001382801.1:c.2306T>G NP_001369730.1:p.Leu769Arg
NM_001382802.1:c.2096T>G NP_001369731.1:p.Leu699Arg
NM_001382803.1:c.2312T>G NP_001369732.1:p.Leu771Arg
NM_001382804.1:c.1526T>G NP_001369733.1:p.Leu509Arg
NM_001382805.1:c.2208+1112T>G NP_001369734.1:n.2208+1112T>G
NM_001382806.1:c.1316T>G NP_001369735.1:p.Leu439Arg
NM_004448.4:c.2354T>G MANE Select NP_004439.2:p.Leu785Arg
NR_110535.2:n.2592T>G