Canonical Allele Identifier: CA399303291
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145850719

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724819A>T , CM000679.2:g.39724819A>T GRCh38
NC_000017.10:g.37881072A>T , CM000679.1:g.37881072A>T GRCh37
NC_000017.9:g.35134598A>T NCBI36
NG_007503.1:g.41680A>T , LRG_724:g.41680A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2401A>T MANE Select ENSP00000269571.4:p.Met801Leu
ENST00000269571.9:c.2401A>T ENSP00000269571.4:p.Met801Leu
ENST00000406381.6:c.2311A>T ENSP00000385185.2:p.Met771Leu
ENST00000445658.6:c.1573A>T ENSP00000404047.2:p.Met525Leu
ENST00000541774.5:c.2356A>T ENSP00000446466.1:p.Met786Leu
ENST00000578373.5:c.*2191A>T ENSP00000463427.1:n.*2191A>T
ENST00000580074.1:c.507A>T
ENST00000583038.5:n.3535A>T
ENST00000584450.5:c.2401A>T ENSP00000463714.1:p.Met801Leu
ENST00000584601.5:c.2311A>T ENSP00000462438.1:p.Met771Leu
NM_001005862.2:c.2311A>T , LRG_724t1:c.2311A>T NP_001005862.1:p.Met771Leu
NM_001289936.1:c.2356A>T , LRG_724t4:c.2356A>T NP_001276865.1:p.Met786Leu
NM_001289937.1:c.2401A>T NP_001276866.1:p.Met801Leu
NM_004448.3:c.2401A>T , LRG_724t2:c.2401A>T NP_004439.2:p.Met801Leu
NR_110535.1:n.2725A>T
XM_024450641.1:c.2539A>T XP_024306409.1:p.Met847Leu
XM_024450642.1:c.2494A>T XP_024306410.1:p.Met832Leu
XM_024450643.1:c.2449A>T XP_024306411.1:p.Met817Leu
NM_001005862.3:c.2311A>T NP_001005862.1:p.Met771Leu
NM_001289936.2:c.2356A>T NP_001276865.1:p.Met786Leu
NM_001289937.2:c.2401A>T NP_001276866.1:p.Met801Leu
NM_001382782.1:c.2311A>T NP_001369711.1:p.Met771Leu
NM_001382783.1:c.2311A>T NP_001369712.1:p.Met771Leu
NM_001382784.1:c.2518A>T NP_001369713.1:p.Met840Leu
NM_001382785.1:c.2503A>T NP_001369714.1:p.Met835Leu
NM_001382786.1:c.2482A>T NP_001369715.1:p.Met828Leu
NM_001382787.1:c.2476A>T NP_001369716.1:p.Met826Leu
NM_001382788.1:c.2431A>T NP_001369717.1:p.Met811Leu
NM_001382789.1:c.2422A>T NP_001369718.1:p.Met808Leu
NM_001382790.1:c.2398A>T NP_001369719.1:p.Met800Leu
NM_001382791.1:c.2392A>T NP_001369720.1:p.Met798Leu
NM_001382792.1:c.2365A>T NP_001369721.1:p.Met789Leu
NM_001382793.1:c.2359A>T NP_001369722.1:p.Met787Leu
NM_001382794.1:c.2359A>T NP_001369723.1:p.Met787Leu
NM_001382795.1:c.2353A>T NP_001369724.1:p.Met785Leu
NM_001382796.1:c.2401A>T NP_001369725.1:p.Met801Leu
NM_001382797.1:c.2302A>T NP_001369726.1:p.Met768Leu
NM_001382798.1:c.2401A>T NP_001369727.1:p.Met801Leu
NM_001382799.1:c.2221A>T NP_001369728.1:p.Met741Leu
NM_001382800.1:c.2308-230A>T NP_001369729.1:n.2308-230A>T
NM_001382801.1:c.2353A>T NP_001369730.1:p.Met785Leu
NM_001382802.1:c.2143A>T NP_001369731.1:p.Met715Leu
NM_001382803.1:c.2359A>T NP_001369732.1:p.Met787Leu
NM_001382804.1:c.1573A>T NP_001369733.1:p.Met525Leu
NM_001382805.1:c.2208+1159A>T NP_001369734.1:n.2208+1159A>T
NM_001382806.1:c.1363A>T NP_001369735.1:p.Met455Leu
NM_004448.4:c.2401A>T MANE Select NP_004439.2:p.Met801Leu
NR_110535.2:n.2639A>T