Canonical Allele Identifier: CA399304513
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145864618

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725112G>T , CM000679.2:g.39725112G>T GRCh38
NC_000017.10:g.37881365G>T , CM000679.1:g.37881365G>T GRCh37
NC_000017.9:g.35134891G>T NCBI36
NG_007503.1:g.41973G>T , LRG_724:g.41973G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2557G>T MANE Select ENSP00000269571.4:p.Val853Phe
ENST00000269571.9:c.2557G>T ENSP00000269571.4:p.Val853Phe
ENST00000406381.6:c.2467G>T ENSP00000385185.2:p.Val823Phe
ENST00000445658.6:c.1729G>T ENSP00000404047.2:p.Val577Phe
ENST00000541774.5:c.2512G>T ENSP00000446466.1:p.Val838Phe
ENST00000578373.5:c.*2347G>T ENSP00000463427.1:n.*2347G>T
ENST00000580074.1:c.663G>T
ENST00000583038.5:n.3691G>T
ENST00000584450.5:c.2557G>T ENSP00000463714.1:p.Val853Phe
ENST00000584601.5:c.2467G>T ENSP00000462438.1:p.Val823Phe
NM_001005862.2:c.2467G>T , LRG_724t1:c.2467G>T NP_001005862.1:p.Val823Phe
NM_001289936.1:c.2512G>T , LRG_724t4:c.2512G>T NP_001276865.1:p.Val838Phe
NM_001289937.1:c.2557G>T NP_001276866.1:p.Val853Phe
NM_004448.3:c.2557G>T , LRG_724t2:c.2557G>T NP_004439.2:p.Val853Phe
NR_110535.1:n.2881G>T
XM_024450641.1:c.2695G>T XP_024306409.1:p.Val899Phe
XM_024450642.1:c.2650G>T XP_024306410.1:p.Val884Phe
XM_024450643.1:c.2605G>T XP_024306411.1:p.Val869Phe
NM_001005862.3:c.2467G>T NP_001005862.1:p.Val823Phe
NM_001289936.2:c.2512G>T NP_001276865.1:p.Val838Phe
NM_001289937.2:c.2557G>T NP_001276866.1:p.Val853Phe
NM_001382782.1:c.2467G>T NP_001369711.1:p.Val823Phe
NM_001382783.1:c.2467G>T NP_001369712.1:p.Val823Phe
NM_001382784.1:c.2674G>T NP_001369713.1:p.Val892Phe
NM_001382785.1:c.2659G>T NP_001369714.1:p.Val887Phe
NM_001382786.1:c.2638G>T NP_001369715.1:p.Val880Phe
NM_001382787.1:c.2632G>T NP_001369716.1:p.Val878Phe
NM_001382788.1:c.2587G>T NP_001369717.1:p.Val863Phe
NM_001382789.1:c.2578G>T NP_001369718.1:p.Val860Phe
NM_001382790.1:c.2554G>T NP_001369719.1:p.Val852Phe
NM_001382791.1:c.2548G>T NP_001369720.1:p.Val850Phe
NM_001382792.1:c.2521G>T NP_001369721.1:p.Val841Phe
NM_001382793.1:c.2515G>T NP_001369722.1:p.Val839Phe
NM_001382794.1:c.2515G>T NP_001369723.1:p.Val839Phe
NM_001382795.1:c.2509G>T NP_001369724.1:p.Val837Phe
NM_001382796.1:c.2557G>T NP_001369725.1:p.Val853Phe
NM_001382797.1:c.2458G>T NP_001369726.1:p.Val820Phe
NM_001382798.1:c.2493+201G>T NP_001369727.1:n.2493+201G>T
NM_001382799.1:c.2377G>T NP_001369728.1:p.Val793Phe
NM_001382800.1:c.2371G>T NP_001369729.1:p.Val791Phe
NM_001382801.1:c.2445+201G>T NP_001369730.1:n.2445+201G>T
NM_001382802.1:c.2299G>T NP_001369731.1:p.Val767Phe
NM_001382803.1:c.2515G>T NP_001369732.1:p.Val839Phe
NM_001382804.1:c.1729G>T NP_001369733.1:p.Val577Phe
NM_001382805.1:c.2208+1452G>T NP_001369734.1:n.2208+1452G>T
NM_001382806.1:c.1519G>T NP_001369735.1:p.Val507Phe
NM_004448.4:c.2557G>T MANE Select NP_004439.2:p.Val853Phe
NR_110535.2:n.2795G>T