ClinVar

NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg)

Gene:

ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39724861 (on Assembly GRCh38)
• Chr17: 37881114 (on Assembly GRCh37)

Preferred name:

NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg)

HGVS:

• NC_000017.11:g.39724861G>A
• NG_007503.1:g.41722G>A
• NM_001005862.3:c.2353G>A
• NM_001289936.2:c.2398G>A
• NM_001289937.2:c.2443G>A
• NM_001382782.1:c.2353G>A
• NM_001382783.1:c.2353G>A
• NM_001382784.1:c.2560G>A
• NM_001382785.1:c.2545G>A
• NM_001382786.1:c.2524G>A
• NM_001382787.1:c.2518G>A
• NM_001382788.1:c.2473G>A
• NM_001382789.1:c.2464G>A
• NM_001382790.1:c.2440G>A
• NM_001382791.1:c.2434G>A
• NM_001382792.1:c.2407G>A
• NM_001382793.1:c.2401G>A
• NM_001382794.1:c.2401G>A
• NM_001382795.1:c.2395G>A
• NM_001382796.1:c.2443G>A
• NM_001382797.1:c.2344G>A
• NM_001382798.1:c.2443G>A
• NM_001382799.1:c.2263G>A
• NM_001382800.1:c.2308-188G>A
• NM_001382801.1:c.2395G>A
• NM_001382802.1:c.2185G>A
• NM_001382803.1:c.2401G>A
• NM_001382804.1:c.1615G>A
• NM_001382805.1:c.2208+1201G>A
• NM_001382806.1:c.1405G>A
• NM_004448.4:c.2443G>AMANE SELECT
• NP_001005862.1:p.Gly785Arg
• NP_001276865.1:p.Gly800Arg
• NP_001276866.1:p.Gly815Arg
• NP_001369711.1:p.Gly785Arg
• NP_001369712.1:p.Gly785Arg
• NP_001369713.1:p.Gly854Arg
• NP_001369714.1:p.Gly849Arg
• NP_001369715.1:p.Gly842Arg
• NP_001369716.1:p.Gly840Arg
• NP_001369717.1:p.Gly825Arg
• NP_001369718.1:p.Gly822Arg
• NP_001369719.1:p.Gly814Arg
• NP_001369720.1:p.Gly812Arg
• NP_001369721.1:p.Gly803Arg
• NP_001369722.1:p.Gly801Arg
• NP_001369723.1:p.Gly801Arg
• NP_001369724.1:p.Gly799Arg
• NP_001369725.1:p.Gly815Arg
• NP_001369726.1:p.Gly782Arg
• NP_001369727.1:p.Gly815Arg
• NP_001369728.1:p.Gly755Arg
• NP_001369730.1:p.Gly799Arg
• NP_001369731.1:p.Gly729Arg
• NP_001369732.1:p.Gly801Arg
• NP_001369733.1:p.Gly539Arg
• NP_001369735.1:p.Gly469Arg
• NP_004439.2:p.Gly815Arg
• LRG_724t4:c.2398G>A
• LRG_724:g.41722G>A
• NC_000017.10:g.37881114G>A
• NM_004448.2:c.2443G>A
• NR_110535.2:n.2681G>A
• c.2443G>A

This HGVS expression did not pass validation

Protein change:

G469R

Links:

dbSNP: rs368094521

NCBI 1000 Genomes Browser:

rs368094521

Molecular consequence:

• NM_001382800.1:c.2308-188G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382805.1:c.2208+1201G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005862.3:c.2353G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289936.2:c.2398G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289937.2:c.2443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382782.1:c.2353G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382783.1:c.2353G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382784.1:c.2560G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382785.1:c.2545G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382786.1:c.2524G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382787.1:c.2518G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382788.1:c.2473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382789.1:c.2464G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382790.1:c.2440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382791.1:c.2434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382792.1:c.2407G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382793.1:c.2401G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382794.1:c.2401G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382795.1:c.2395G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382796.1:c.2443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382797.1:c.2344G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382798.1:c.2443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382799.1:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382801.1:c.2395G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382802.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382803.1:c.2401G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382804.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382806.1:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004448.4:c.2443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110535.2:n.2681G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]