ClinVar

NM_004448.4(ERBB2):c.2535C>T (p.Asp845=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39725090 (on Assembly GRCh38)
• Chr17: 37881343 (on Assembly GRCh37)

Preferred name:

NM_004448.4(ERBB2):c.2535C>T (p.Asp845=)

HGVS:

• NC_000017.11:g.39725090C>T
• NG_007503.1:g.41951C>T
• NM_001005862.3:c.2445C>T
• NM_001289936.2:c.2490C>T
• NM_001289937.2:c.2535C>T
• NM_001382782.1:c.2445C>T
• NM_001382783.1:c.2445C>T
• NM_001382784.1:c.2652C>T
• NM_001382785.1:c.2637C>T
• NM_001382786.1:c.2616C>T
• NM_001382787.1:c.2610C>T
• NM_001382788.1:c.2565C>T
• NM_001382789.1:c.2556C>T
• NM_001382790.1:c.2532C>T
• NM_001382791.1:c.2526C>T
• NM_001382792.1:c.2499C>T
• NM_001382793.1:c.2493C>T
• NM_001382794.1:c.2493C>T
• NM_001382795.1:c.2487C>T
• NM_001382796.1:c.2535C>T
• NM_001382797.1:c.2436C>T
• NM_001382798.1:c.2493+179C>T
• NM_001382799.1:c.2355C>T
• NM_001382800.1:c.2349C>T
• NM_001382801.1:c.2445+179C>T
• NM_001382802.1:c.2277C>T
• NM_001382803.1:c.2493C>T
• NM_001382804.1:c.1707C>T
• NM_001382805.1:c.2208+1430C>T
• NM_001382806.1:c.1497C>T
• NM_004448.4:c.2535C>TMANE SELECT
• NP_001005862.1:p.Asp815=
• NP_001276865.1:p.Asp830=
• NP_001276866.1:p.Asp845=
• NP_001369711.1:p.Asp815=
• NP_001369712.1:p.Asp815=
• NP_001369713.1:p.Asp884=
• NP_001369714.1:p.Asp879=
• NP_001369715.1:p.Asp872=
• NP_001369716.1:p.Asp870=
• NP_001369717.1:p.Asp855=
• NP_001369718.1:p.Asp852=
• NP_001369719.1:p.Asp844=
• NP_001369720.1:p.Asp842=
• NP_001369721.1:p.Asp833=
• NP_001369722.1:p.Asp831=
• NP_001369723.1:p.Asp831=
• NP_001369724.1:p.Asp829=
• NP_001369725.1:p.Asp845=
• NP_001369726.1:p.Asp812=
• NP_001369728.1:p.Asp785=
• NP_001369729.1:p.Asp783=
• NP_001369731.1:p.Asp759=
• NP_001369732.1:p.Asp831=
• NP_001369733.1:p.Asp569=
• NP_001369735.1:p.Asp499=
• NP_004439.2:p.Asp845=
• LRG_724:g.41951C>T
• NC_000017.10:g.37881343C>T
• NR_110535.2:n.2773C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs137852788

NCBI 1000 Genomes Browser:

rs137852788

Molecular consequence:

• NM_001382798.1:c.2493+179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382801.1:c.2445+179C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382805.1:c.2208+1430C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_110535.2:n.2773C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001005862.3:c.2445C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289936.2:c.2490C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289937.2:c.2535C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382782.1:c.2445C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382783.1:c.2445C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382784.1:c.2652C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382785.1:c.2637C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382786.1:c.2616C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382787.1:c.2610C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382788.1:c.2565C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382789.1:c.2556C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382790.1:c.2532C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382791.1:c.2526C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382792.1:c.2499C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382793.1:c.2493C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382794.1:c.2493C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382795.1:c.2487C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382796.1:c.2535C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382797.1:c.2436C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382799.1:c.2355C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382800.1:c.2349C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382802.1:c.2277C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382803.1:c.2493C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382804.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382806.1:c.1497C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004448.4:c.2535C>T - synonymous variant - [Sequence Ontology: SO:0001819]