ClinVar

NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)

Gene:

CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463326 (on Assembly GRCh38)
• Chr8: 27320843 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)

HGVS:

• NC_000008.11:g.27463326A>G
• NG_015827.1:g.20971T>C
• NM_000742.4:c.1117T>CMANE SELECT
• NM_001282455.2:c.1072T>C
• NM_001347705.2:c.640T>C
• NM_001347706.2:c.640T>C
• NM_001347707.2:c.523T>C
• NM_001347708.2:c.523T>C
• NP_000733.2:p.Cys373Arg
• NP_001269384.1:p.Cys358Arg
• NP_001334634.1:p.Cys214Arg
• NP_001334635.1:p.Cys214Arg
• NP_001334636.1:p.Cys175Arg
• NP_001334637.1:p.Cys175Arg
• NC_000008.10:g.27320843A>G
• NM_000742.3:c.1117T>C

This HGVS expression did not pass validation

Protein change:

C175R

Links:

dbSNP: rs137965290

NCBI 1000 Genomes Browser:

rs137965290

Molecular consequence:

• NM_000742.4:c.1117T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282455.2:c.1072T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347705.2:c.640T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347706.2:c.640T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347707.2:c.523T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347708.2:c.523T>C - missense variant - [Sequence Ontology: SO:0001583]