Canonical Allele Identifier: CA399304253
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs747967722

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725074G>T , CM000679.2:g.39725074G>T GRCh38
NC_000017.10:g.37881327G>T , CM000679.1:g.37881327G>T GRCh37
NC_000017.9:g.35134853G>T NCBI36
NG_007503.1:g.41935G>T , LRG_724:g.41935G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2519G>T MANE Select ENSP00000269571.4:p.Arg840Leu
ENST00000269571.9:c.2519G>T ENSP00000269571.4:p.Arg840Leu
ENST00000406381.6:c.2429G>T ENSP00000385185.2:p.Arg810Leu
ENST00000445658.6:c.1691G>T ENSP00000404047.2:p.Arg564Leu
ENST00000541774.5:c.2474G>T ENSP00000446466.1:p.Arg825Leu
ENST00000578373.5:c.*2309G>T ENSP00000463427.1:n.*2309G>T
ENST00000580074.1:c.625G>T
ENST00000583038.5:n.3653G>T
ENST00000584450.5:c.2519G>T ENSP00000463714.1:p.Arg840Leu
ENST00000584601.5:c.2429G>T ENSP00000462438.1:p.Arg810Leu
NM_001005862.2:c.2429G>T , LRG_724t1:c.2429G>T NP_001005862.1:p.Arg810Leu
NM_001289936.1:c.2474G>T , LRG_724t4:c.2474G>T NP_001276865.1:p.Arg825Leu
NM_001289937.1:c.2519G>T NP_001276866.1:p.Arg840Leu
NM_004448.3:c.2519G>T , LRG_724t2:c.2519G>T NP_004439.2:p.Arg840Leu
NR_110535.1:n.2843G>T
XM_024450641.1:c.2657G>T XP_024306409.1:p.Arg886Leu
XM_024450642.1:c.2612G>T XP_024306410.1:p.Arg871Leu
XM_024450643.1:c.2567G>T XP_024306411.1:p.Arg856Leu
NM_001005862.3:c.2429G>T NP_001005862.1:p.Arg810Leu
NM_001289936.2:c.2474G>T NP_001276865.1:p.Arg825Leu
NM_001289937.2:c.2519G>T NP_001276866.1:p.Arg840Leu
NM_001382782.1:c.2429G>T NP_001369711.1:p.Arg810Leu
NM_001382783.1:c.2429G>T NP_001369712.1:p.Arg810Leu
NM_001382784.1:c.2636G>T NP_001369713.1:p.Arg879Leu
NM_001382785.1:c.2621G>T NP_001369714.1:p.Arg874Leu
NM_001382786.1:c.2600G>T NP_001369715.1:p.Arg867Leu
NM_001382787.1:c.2594G>T NP_001369716.1:p.Arg865Leu
NM_001382788.1:c.2549G>T NP_001369717.1:p.Arg850Leu
NM_001382789.1:c.2540G>T NP_001369718.1:p.Arg847Leu
NM_001382790.1:c.2516G>T NP_001369719.1:p.Arg839Leu
NM_001382791.1:c.2510G>T NP_001369720.1:p.Arg837Leu
NM_001382792.1:c.2483G>T NP_001369721.1:p.Arg828Leu
NM_001382793.1:c.2477G>T NP_001369722.1:p.Arg826Leu
NM_001382794.1:c.2477G>T NP_001369723.1:p.Arg826Leu
NM_001382795.1:c.2471G>T NP_001369724.1:p.Arg824Leu
NM_001382796.1:c.2519G>T NP_001369725.1:p.Arg840Leu
NM_001382797.1:c.2420G>T NP_001369726.1:p.Arg807Leu
NM_001382798.1:c.2493+163G>T NP_001369727.1:n.2493+163G>T
NM_001382799.1:c.2339G>T NP_001369728.1:p.Arg780Leu
NM_001382800.1:c.2333G>T NP_001369729.1:p.Arg778Leu
NM_001382801.1:c.2445+163G>T NP_001369730.1:n.2445+163G>T
NM_001382802.1:c.2261G>T NP_001369731.1:p.Arg754Leu
NM_001382803.1:c.2477G>T NP_001369732.1:p.Arg826Leu
NM_001382804.1:c.1691G>T NP_001369733.1:p.Arg564Leu
NM_001382805.1:c.2208+1414G>T NP_001369734.1:n.2208+1414G>T
NM_001382806.1:c.1481G>T NP_001369735.1:p.Arg494Leu
NM_004448.4:c.2519G>T MANE Select NP_004439.2:p.Arg840Leu
NR_110535.2:n.2757G>T