ClinVar

NM_000742.4(CHRNA2):c.1294T>G (p.Ser432Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463149 (on Assembly GRCh38)
• Chr8: 27320666 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1294T>G (p.Ser432Ala)

HGVS:

• NC_000008.11:g.27463149A>C
• NG_015827.1:g.21148T>G
• NM_000742.4:c.1294T>GMANE SELECT
• NM_001282455.2:c.1249T>G
• NM_001347705.2:c.817T>G
• NM_001347706.2:c.817T>G
• NM_001347707.2:c.700T>G
• NM_001347708.2:c.700T>G
• NP_000733.2:p.Ser432Ala
• NP_001269384.1:p.Ser417Ala
• NP_001334634.1:p.Ser273Ala
• NP_001334635.1:p.Ser273Ala
• NP_001334636.1:p.Ser234Ala
• NP_001334637.1:p.Ser234Ala
• NC_000008.10:g.27320666A>C

This HGVS expression did not pass validation

Protein change:

S234A

Links:

dbSNP: rs2132650731

NCBI 1000 Genomes Browser:

rs2132650731

Molecular consequence:

• NM_000742.4:c.1294T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282455.2:c.1249T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347705.2:c.817T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347706.2:c.817T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347707.2:c.700T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347708.2:c.700T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1