ClinVar

NM_004448.4(ERBB2):c.3651C>T (p.Phe1217=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39727927 (on Assembly GRCh38)
• Chr17: 37884180 (on Assembly GRCh37)

Preferred name:

NM_004448.4(ERBB2):c.3651C>T (p.Phe1217=)

HGVS:

• NC_000017.11:g.39727927C>T
• NG_007503.1:g.44788C>T
• NM_001005862.3:c.3561C>T
• NM_001289936.2:c.3606C>T
• NM_001289937.2:c.*230C>T
• NM_001382782.1:c.3561C>T
• NM_001382783.1:c.3561C>T
• NM_001382784.1:c.3768C>T
• NM_001382785.1:c.3753C>T
• NM_001382786.1:c.3732C>T
• NM_001382787.1:c.3726C>T
• NM_001382788.1:c.3681C>T
• NM_001382789.1:c.3672C>T
• NM_001382790.1:c.3648C>T
• NM_001382791.1:c.3642C>T
• NM_001382792.1:c.3615C>T
• NM_001382793.1:c.3609C>T
• NM_001382794.1:c.3609C>T
• NM_001382795.1:c.3603C>T
• NM_001382796.1:c.3564C>T
• NM_001382797.1:c.3552C>T
• NM_001382798.1:c.3495C>T
• NM_001382799.1:c.3471C>T
• NM_001382800.1:c.3465C>T
• NM_001382801.1:c.3447C>T
• NM_001382802.1:c.3393C>T
• NM_001382803.1:c.*230C>T
• NM_001382804.1:c.2823C>T
• NM_001382805.1:c.2700C>T
• NM_001382806.1:c.2613C>T
• NM_004448.4:c.3651C>TMANE SELECT
• NP_001005862.1:p.Phe1187=
• NP_001276865.1:p.Phe1202=
• NP_001369711.1:p.Phe1187=
• NP_001369712.1:p.Phe1187=
• NP_001369713.1:p.Phe1256=
• NP_001369714.1:p.Phe1251=
• NP_001369715.1:p.Phe1244=
• NP_001369716.1:p.Phe1242=
• NP_001369717.1:p.Phe1227=
• NP_001369718.1:p.Phe1224=
• NP_001369719.1:p.Phe1216=
• NP_001369720.1:p.Phe1214=
• NP_001369721.1:p.Phe1205=
• NP_001369722.1:p.Phe1203=
• NP_001369723.1:p.Phe1203=
• NP_001369724.1:p.Phe1201=
• NP_001369725.1:p.Phe1188=
• NP_001369726.1:p.Phe1184=
• NP_001369727.1:p.Phe1165=
• NP_001369728.1:p.Phe1157=
• NP_001369729.1:p.Phe1155=
• NP_001369730.1:p.Phe1149=
• NP_001369731.1:p.Phe1131=
• NP_001369733.1:p.Phe941=
• NP_001369734.1:p.Phe900=
• NP_001369735.1:p.Phe871=
• NP_004439.2:p.Phe1217=
• LRG_724:g.44788C>T
• NC_000017.10:g.37884180C>T
• NR_110535.2:n.3889C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs188050006

NCBI 1000 Genomes Browser:

rs188050006

Molecular consequence:

• NM_001289937.2:c.*230C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382803.1:c.*230C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_110535.2:n.3889C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001005862.3:c.3561C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289936.2:c.3606C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382782.1:c.3561C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382783.1:c.3561C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382784.1:c.3768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382785.1:c.3753C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382786.1:c.3732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382787.1:c.3726C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382788.1:c.3681C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382789.1:c.3672C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382790.1:c.3648C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382791.1:c.3642C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382792.1:c.3615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382793.1:c.3609C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382794.1:c.3609C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382795.1:c.3603C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382796.1:c.3564C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382797.1:c.3552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382798.1:c.3495C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382799.1:c.3471C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382800.1:c.3465C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382801.1:c.3447C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382802.1:c.3393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382804.1:c.2823C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382805.1:c.2700C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382806.1:c.2613C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004448.4:c.3651C>T - synonymous variant - [Sequence Ontology: SO:0001819]