Canonical Allele Identifier: CA399302283
Community Standard Title: NM_004448.4(ERBB2):c.2193T>A (p.Phe731Leu)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723645T>A , CM000679.2:g.39723645T>A GRCh38
NC_000017.10:g.37879898T>A , CM000679.1:g.37879898T>A GRCh37
NC_000017.9:g.35133424T>A NCBI36
NG_007503.1:g.40506T>A , LRG_724:g.40506T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2193T>A MANE Select NP_004439.2:p.Phe731Leu
ENST00000269571.10:c.2193T>A MANE Select ENSP00000269571.4:p.Phe731Leu
NM_001005862.2:c.2103T>A , LRG_724t1:c.2103T>A NP_001005862.1:p.Phe701Leu
NM_001005862.3:c.2103T>A NP_001005862.1:p.Phe701Leu
NM_001289936.1:c.2148T>A , LRG_724t4:c.2148T>A NP_001276865.1:p.Phe716Leu
NM_001289936.2:c.2148T>A NP_001276865.1:p.Phe716Leu
NM_001289937.1:c.2193T>A NP_001276866.1:p.Phe731Leu
NM_001289937.2:c.2193T>A NP_001276866.1:p.Phe731Leu
NM_001382782.1:c.2103T>A NP_001369711.1:p.Phe701Leu
NM_001382783.1:c.2103T>A NP_001369712.1:p.Phe701Leu
NM_001382784.1:c.2310T>A NP_001369713.1:p.Phe770Leu
NM_001382785.1:c.2295T>A NP_001369714.1:p.Phe765Leu
NM_001382786.1:c.2289+21T>A NP_001369715.1:n.2289+21T>A
NM_001382787.1:c.2268T>A NP_001369716.1:p.Phe756Leu
NM_001382788.1:c.2223T>A NP_001369717.1:p.Phe741Leu
NM_001382789.1:c.2214T>A NP_001369718.1:p.Phe738Leu
NM_001382790.1:c.2190T>A NP_001369719.1:p.Phe730Leu
NM_001382791.1:c.2184T>A NP_001369720.1:p.Phe728Leu
NM_001382792.1:c.2172+21T>A NP_001369721.1:n.2172+21T>A
NM_001382793.1:c.2166+27T>A NP_001369722.1:n.2166+27T>A
NM_001382794.1:c.2151T>A NP_001369723.1:p.Phe717Leu
NM_001382795.1:c.2145T>A NP_001369724.1:p.Phe715Leu
NM_001382796.1:c.2193T>A NP_001369725.1:p.Phe731Leu
NM_001382797.1:c.2193T>A NP_001369726.1:p.Phe731Leu
NM_001382798.1:c.2193T>A NP_001369727.1:p.Phe731Leu
NM_001382799.1:c.2013T>A NP_001369728.1:p.Phe671Leu
NM_001382800.1:c.2193T>A NP_001369729.1:p.Phe731Leu
NM_001382801.1:c.2145T>A NP_001369730.1:p.Phe715Leu
NM_001382802.1:c.1935T>A NP_001369731.1:p.Phe645Leu
NM_001382803.1:c.2166+27T>A NP_001369732.1:n.2166+27T>A
NM_001382804.1:c.1365T>A NP_001369733.1:p.Phe455Leu
NM_001382805.1:c.2193T>A NP_001369734.1:p.Phe731Leu
NM_001382806.1:c.1223-319T>A NP_001369735.1:n.1223-319T>A
NM_004448.3:c.2193T>A , LRG_724t2:c.2193T>A NP_004439.2:p.Phe731Leu
NR_110535.1:n.2517T>A
NR_110535.2:n.2431T>A
ENST00000269571.9:c.2193T>A ENSP00000269571.4:p.Phe731Leu
ENST00000406381.6:c.2103T>A ENSP00000385185.2:p.Phe701Leu
ENST00000445658.6:c.1365T>A ENSP00000404047.2:p.Phe455Leu
ENST00000541774.5:c.2148T>A ENSP00000446466.1:p.Phe716Leu
ENST00000578373.5:c.*1983T>A ENSP00000463427.1:n.*1983T>A
ENST00000578630.1:n.802T>A
ENST00000580074.1:c.299T>A
ENST00000582818.5:c.490+21T>A
ENST00000583038.5:n.3327T>A
ENST00000584450.5:c.2193T>A ENSP00000463714.1:p.Phe731Leu
ENST00000584601.5:c.2103T>A ENSP00000462438.1:p.Phe701Leu
XM_024450641.1:c.2331T>A XP_024306409.1:p.Phe777Leu
XM_024450642.1:c.2286T>A XP_024306410.1:p.Phe762Leu
XM_024450643.1:c.2241T>A XP_024306411.1:p.Phe747Leu