Canonical Allele Identifier: CA8534323
Gene: ERBB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166495
ClinVar RCV Id: RCV003091789
dbSNP Id: rs373165016

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725078C>T , CM000679.2:g.39725078C>T GRCh38
NC_000017.10:g.37881331C>T , CM000679.1:g.37881331C>T GRCh37
NC_000017.9:g.35134857C>T NCBI36
NG_007503.1:g.41939C>T , LRG_724:g.41939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2523C>T MANE Select ENSP00000269571.4:p.Leu841=
ENST00000269571.9:c.2523C>T ENSP00000269571.4:p.Leu841=
ENST00000406381.6:c.2433C>T ENSP00000385185.2:p.Leu811=
ENST00000445658.6:c.1695C>T ENSP00000404047.2:p.Leu565=
ENST00000541774.5:c.2478C>T ENSP00000446466.1:p.Leu826=
ENST00000578373.5:c.*2313C>T ENSP00000463427.1:n.*2313C>T
ENST00000580074.1:c.629C>T
ENST00000583038.5:n.3657C>T
ENST00000584450.5:c.2523C>T ENSP00000463714.1:p.Leu841=
ENST00000584601.5:c.2433C>T ENSP00000462438.1:p.Leu811=
NM_001005862.2:c.2433C>T , LRG_724t1:c.2433C>T NP_001005862.1:p.Leu811=
NM_001289936.1:c.2478C>T , LRG_724t4:c.2478C>T NP_001276865.1:p.Leu826=
NM_001289937.1:c.2523C>T NP_001276866.1:p.Leu841=
NM_004448.3:c.2523C>T , LRG_724t2:c.2523C>T NP_004439.2:p.Leu841=
NR_110535.1:n.2847C>T
XM_024450641.1:c.2661C>T XP_024306409.1:p.Leu887=
XM_024450642.1:c.2616C>T XP_024306410.1:p.Leu872=
XM_024450643.1:c.2571C>T XP_024306411.1:p.Leu857=
NM_001005862.3:c.2433C>T NP_001005862.1:p.Leu811=
NM_001289936.2:c.2478C>T NP_001276865.1:p.Leu826=
NM_001289937.2:c.2523C>T NP_001276866.1:p.Leu841=
NM_001382782.1:c.2433C>T NP_001369711.1:p.Leu811=
NM_001382783.1:c.2433C>T NP_001369712.1:p.Leu811=
NM_001382784.1:c.2640C>T NP_001369713.1:p.Leu880=
NM_001382785.1:c.2625C>T NP_001369714.1:p.Leu875=
NM_001382786.1:c.2604C>T NP_001369715.1:p.Leu868=
NM_001382787.1:c.2598C>T NP_001369716.1:p.Leu866=
NM_001382788.1:c.2553C>T NP_001369717.1:p.Leu851=
NM_001382789.1:c.2544C>T NP_001369718.1:p.Leu848=
NM_001382790.1:c.2520C>T NP_001369719.1:p.Leu840=
NM_001382791.1:c.2514C>T NP_001369720.1:p.Leu838=
NM_001382792.1:c.2487C>T NP_001369721.1:p.Leu829=
NM_001382793.1:c.2481C>T NP_001369722.1:p.Leu827=
NM_001382794.1:c.2481C>T NP_001369723.1:p.Leu827=
NM_001382795.1:c.2475C>T NP_001369724.1:p.Leu825=
NM_001382796.1:c.2523C>T NP_001369725.1:p.Leu841=
NM_001382797.1:c.2424C>T NP_001369726.1:p.Leu808=
NM_001382798.1:c.2493+167C>T NP_001369727.1:n.2493+167C>T
NM_001382799.1:c.2343C>T NP_001369728.1:p.Leu781=
NM_001382800.1:c.2337C>T NP_001369729.1:p.Leu779=
NM_001382801.1:c.2445+167C>T NP_001369730.1:n.2445+167C>T
NM_001382802.1:c.2265C>T NP_001369731.1:p.Leu755=
NM_001382803.1:c.2481C>T NP_001369732.1:p.Leu827=
NM_001382804.1:c.1695C>T NP_001369733.1:p.Leu565=
NM_001382805.1:c.2208+1418C>T NP_001369734.1:n.2208+1418C>T
NM_001382806.1:c.1485C>T NP_001369735.1:p.Leu495=
NM_004448.4:c.2523C>T MANE Select NP_004439.2:p.Leu841=
NR_110535.2:n.2761C>T