Canonical Allele Identifier: CA399304225
Gene: ERBB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725070G>T , CM000679.2:g.39725070G>T GRCh38
NC_000017.10:g.37881323G>T , CM000679.1:g.37881323G>T GRCh37
NC_000017.9:g.35134849G>T NCBI36
NG_007503.1:g.41931G>T , LRG_724:g.41931G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2515G>T MANE Select ENSP00000269571.4:p.Val839Leu
ENST00000269571.9:c.2515G>T ENSP00000269571.4:p.Val839Leu
ENST00000406381.6:c.2425G>T ENSP00000385185.2:p.Val809Leu
ENST00000445658.6:c.1687G>T ENSP00000404047.2:p.Val563Leu
ENST00000541774.5:c.2470G>T ENSP00000446466.1:p.Val824Leu
ENST00000578373.5:c.*2305G>T ENSP00000463427.1:n.*2305G>T
ENST00000580074.1:c.621G>T
ENST00000583038.5:n.3649G>T
ENST00000584450.5:c.2515G>T ENSP00000463714.1:p.Val839Leu
ENST00000584601.5:c.2425G>T ENSP00000462438.1:p.Val809Leu
NM_001005862.2:c.2425G>T , LRG_724t1:c.2425G>T NP_001005862.1:p.Val809Leu
NM_001289936.1:c.2470G>T , LRG_724t4:c.2470G>T NP_001276865.1:p.Val824Leu
NM_001289937.1:c.2515G>T NP_001276866.1:p.Val839Leu
NM_004448.3:c.2515G>T , LRG_724t2:c.2515G>T NP_004439.2:p.Val839Leu
NR_110535.1:n.2839G>T
XM_024450641.1:c.2653G>T XP_024306409.1:p.Val885Leu
XM_024450642.1:c.2608G>T XP_024306410.1:p.Val870Leu
XM_024450643.1:c.2563G>T XP_024306411.1:p.Val855Leu
NM_001005862.3:c.2425G>T NP_001005862.1:p.Val809Leu
NM_001289936.2:c.2470G>T NP_001276865.1:p.Val824Leu
NM_001289937.2:c.2515G>T NP_001276866.1:p.Val839Leu
NM_001382782.1:c.2425G>T NP_001369711.1:p.Val809Leu
NM_001382783.1:c.2425G>T NP_001369712.1:p.Val809Leu
NM_001382784.1:c.2632G>T NP_001369713.1:p.Val878Leu
NM_001382785.1:c.2617G>T NP_001369714.1:p.Val873Leu
NM_001382786.1:c.2596G>T NP_001369715.1:p.Val866Leu
NM_001382787.1:c.2590G>T NP_001369716.1:p.Val864Leu
NM_001382788.1:c.2545G>T NP_001369717.1:p.Val849Leu
NM_001382789.1:c.2536G>T NP_001369718.1:p.Val846Leu
NM_001382790.1:c.2512G>T NP_001369719.1:p.Val838Leu
NM_001382791.1:c.2506G>T NP_001369720.1:p.Val836Leu
NM_001382792.1:c.2479G>T NP_001369721.1:p.Val827Leu
NM_001382793.1:c.2473G>T NP_001369722.1:p.Val825Leu
NM_001382794.1:c.2473G>T NP_001369723.1:p.Val825Leu
NM_001382795.1:c.2467G>T NP_001369724.1:p.Val823Leu
NM_001382796.1:c.2515G>T NP_001369725.1:p.Val839Leu
NM_001382797.1:c.2416G>T NP_001369726.1:p.Val806Leu
NM_001382798.1:c.2493+159G>T NP_001369727.1:n.2493+159G>T
NM_001382799.1:c.2335G>T NP_001369728.1:p.Val779Leu
NM_001382800.1:c.2329G>T NP_001369729.1:p.Val777Leu
NM_001382801.1:c.2445+159G>T NP_001369730.1:n.2445+159G>T
NM_001382802.1:c.2257G>T NP_001369731.1:p.Val753Leu
NM_001382803.1:c.2473G>T NP_001369732.1:p.Val825Leu
NM_001382804.1:c.1687G>T NP_001369733.1:p.Val563Leu
NM_001382805.1:c.2208+1410G>T NP_001369734.1:n.2208+1410G>T
NM_001382806.1:c.1477G>T NP_001369735.1:p.Val493Leu
NM_004448.4:c.2515G>T MANE Select NP_004439.2:p.Val839Leu
NR_110535.2:n.2753G>T