ClinVar

NM_004448.4(ERBB2):c.3540C>T (p.Val1180=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39727816 (on Assembly GRCh38)
• Chr17: 37884069 (on Assembly GRCh37)

Preferred name:

NM_004448.4(ERBB2):c.3540C>T (p.Val1180=)

HGVS:

• NC_000017.11:g.39727816C>T
• NG_007503.1:g.44677C>T
• NM_001005862.3:c.3450C>T
• NM_001289936.2:c.3495C>T
• NM_001289937.2:c.*119C>T
• NM_001382782.1:c.3450C>T
• NM_001382783.1:c.3450C>T
• NM_001382784.1:c.3657C>T
• NM_001382785.1:c.3642C>T
• NM_001382786.1:c.3621C>T
• NM_001382787.1:c.3615C>T
• NM_001382788.1:c.3570C>T
• NM_001382789.1:c.3561C>T
• NM_001382790.1:c.3537C>T
• NM_001382791.1:c.3531C>T
• NM_001382792.1:c.3504C>T
• NM_001382793.1:c.3498C>T
• NM_001382794.1:c.3498C>T
• NM_001382795.1:c.3492C>T
• NM_001382796.1:c.3453C>T
• NM_001382797.1:c.3441C>T
• NM_001382798.1:c.3384C>T
• NM_001382799.1:c.3360C>T
• NM_001382800.1:c.3354C>T
• NM_001382801.1:c.3336C>T
• NM_001382802.1:c.3282C>T
• NM_001382803.1:c.*119C>T
• NM_001382804.1:c.2712C>T
• NM_001382805.1:c.2589C>T
• NM_001382806.1:c.2502C>T
• NM_004448.4:c.3540C>TMANE SELECT
• NP_001005862.1:p.Val1150=
• NP_001276865.1:p.Val1165=
• NP_001369711.1:p.Val1150=
• NP_001369712.1:p.Val1150=
• NP_001369713.1:p.Val1219=
• NP_001369714.1:p.Val1214=
• NP_001369715.1:p.Val1207=
• NP_001369716.1:p.Val1205=
• NP_001369717.1:p.Val1190=
• NP_001369718.1:p.Val1187=
• NP_001369719.1:p.Val1179=
• NP_001369720.1:p.Val1177=
• NP_001369721.1:p.Val1168=
• NP_001369722.1:p.Val1166=
• NP_001369723.1:p.Val1166=
• NP_001369724.1:p.Val1164=
• NP_001369725.1:p.Val1151=
• NP_001369726.1:p.Val1147=
• NP_001369727.1:p.Val1128=
• NP_001369728.1:p.Val1120=
• NP_001369729.1:p.Val1118=
• NP_001369730.1:p.Val1112=
• NP_001369731.1:p.Val1094=
• NP_001369733.1:p.Val904=
• NP_001369734.1:p.Val863=
• NP_001369735.1:p.Val834=
• NP_004439.2:p.Val1180=
• LRG_724:g.44677C>T
• NC_000017.10:g.37884069C>T
• NR_110535.2:n.3778C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs759480536

NCBI 1000 Genomes Browser:

rs759480536

Molecular consequence:

• NM_001289937.2:c.*119C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382803.1:c.*119C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_110535.2:n.3778C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001005862.3:c.3450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289936.2:c.3495C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382782.1:c.3450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382783.1:c.3450C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382784.1:c.3657C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382785.1:c.3642C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382786.1:c.3621C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382787.1:c.3615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382788.1:c.3570C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382789.1:c.3561C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382790.1:c.3537C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382791.1:c.3531C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382792.1:c.3504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382793.1:c.3498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382794.1:c.3498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382795.1:c.3492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382796.1:c.3453C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382797.1:c.3441C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382798.1:c.3384C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382799.1:c.3360C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382800.1:c.3354C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382801.1:c.3336C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382802.1:c.3282C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382804.1:c.2712C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382805.1:c.2589C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382806.1:c.2502C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004448.4:c.3540C>T - synonymous variant - [Sequence Ontology: SO:0001819]