Canonical Allele Identifier: CA399304690
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145865349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725131T>C , CM000679.2:g.39725131T>C GRCh38
NC_000017.10:g.37881384T>C , CM000679.1:g.37881384T>C GRCh37
NC_000017.9:g.35134910T>C NCBI36
NG_007503.1:g.41992T>C , LRG_724:g.41992T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000269571.10:c.2576T>C MANE Select ENSP00000269571.4:p.Val859Ala
ENST00000269571.9:c.2576T>C ENSP00000269571.4:p.Val859Ala
ENST00000406381.6:c.2486T>C ENSP00000385185.2:p.Val829Ala
ENST00000445658.6:c.1748T>C ENSP00000404047.2:p.Val583Ala
ENST00000541774.5:c.2531T>C ENSP00000446466.1:p.Val844Ala
ENST00000578373.5:c.*2366T>C ENSP00000463427.1:n.*2366T>C
ENST00000580074.1:c.682T>C
ENST00000583038.5:n.3710T>C
ENST00000584450.5:c.2576T>C ENSP00000463714.1:p.Val859Ala
ENST00000584601.5:c.2486T>C ENSP00000462438.1:p.Val829Ala
NM_001005862.2:c.2486T>C , LRG_724t1:c.2486T>C NP_001005862.1:p.Val829Ala
NM_001289936.1:c.2531T>C , LRG_724t4:c.2531T>C NP_001276865.1:p.Val844Ala
NM_001289937.1:c.2576T>C NP_001276866.1:p.Val859Ala
NM_004448.3:c.2576T>C , LRG_724t2:c.2576T>C NP_004439.2:p.Val859Ala
NR_110535.1:n.2900T>C
XM_024450641.1:c.2714T>C XP_024306409.1:p.Val905Ala
XM_024450642.1:c.2669T>C XP_024306410.1:p.Val890Ala
XM_024450643.1:c.2624T>C XP_024306411.1:p.Val875Ala
NM_001005862.3:c.2486T>C NP_001005862.1:p.Val829Ala
NM_001289936.2:c.2531T>C NP_001276865.1:p.Val844Ala
NM_001289937.2:c.2576T>C NP_001276866.1:p.Val859Ala
NM_001382782.1:c.2486T>C NP_001369711.1:p.Val829Ala
NM_001382783.1:c.2486T>C NP_001369712.1:p.Val829Ala
NM_001382784.1:c.2693T>C NP_001369713.1:p.Val898Ala
NM_001382785.1:c.2678T>C NP_001369714.1:p.Val893Ala
NM_001382786.1:c.2657T>C NP_001369715.1:p.Val886Ala
NM_001382787.1:c.2651T>C NP_001369716.1:p.Val884Ala
NM_001382788.1:c.2606T>C NP_001369717.1:p.Val869Ala
NM_001382789.1:c.2597T>C NP_001369718.1:p.Val866Ala
NM_001382790.1:c.2573T>C NP_001369719.1:p.Val858Ala
NM_001382791.1:c.2567T>C NP_001369720.1:p.Val856Ala
NM_001382792.1:c.2540T>C NP_001369721.1:p.Val847Ala
NM_001382793.1:c.2534T>C NP_001369722.1:p.Val845Ala
NM_001382794.1:c.2534T>C NP_001369723.1:p.Val845Ala
NM_001382795.1:c.2528T>C NP_001369724.1:p.Val843Ala
NM_001382796.1:c.2576T>C NP_001369725.1:p.Val859Ala
NM_001382797.1:c.2477T>C NP_001369726.1:p.Val826Ala
NM_001382798.1:c.2494-196T>C NP_001369727.1:n.2494-196T>C
NM_001382799.1:c.2396T>C NP_001369728.1:p.Val799Ala
NM_001382800.1:c.2390T>C NP_001369729.1:p.Val797Ala
NM_001382801.1:c.2446-196T>C NP_001369730.1:n.2446-196T>C
NM_001382802.1:c.2318T>C NP_001369731.1:p.Val773Ala
NM_001382803.1:c.2534T>C NP_001369732.1:p.Val845Ala
NM_001382804.1:c.1748T>C NP_001369733.1:p.Val583Ala
NM_001382805.1:c.2208+1471T>C NP_001369734.1:n.2208+1471T>C
NM_001382806.1:c.1538T>C NP_001369735.1:p.Val513Ala
NM_004448.4:c.2576T>C MANE Select NP_004439.2:p.Val859Ala
NR_110535.2:n.2814T>C