ClinVar

NM_000742.4(CHRNA2):c.1173C>A (p.His391Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463270 (on Assembly GRCh38)
• Chr8: 27320787 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1173C>A (p.His391Gln)

HGVS:

• NC_000008.11:g.27463270G>T
• NG_015827.1:g.21027C>A
• NM_000742.4:c.1173C>AMANE SELECT
• NM_001282455.2:c.1128C>A
• NM_001347705.2:c.696C>A
• NM_001347706.2:c.696C>A
• NM_001347707.2:c.579C>A
• NM_001347708.2:c.579C>A
• NP_000733.2:p.His391Gln
• NP_001269384.1:p.His376Gln
• NP_001334634.1:p.His232Gln
• NP_001334635.1:p.His232Gln
• NP_001334636.1:p.His193Gln
• NP_001334637.1:p.His193Gln
• NC_000008.10:g.27320787G>T

This HGVS expression did not pass validation

Protein change:

H193Q

Links:

dbSNP: rs183676062

NCBI 1000 Genomes Browser:

rs183676062

Molecular consequence:

• NM_000742.4:c.1173C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282455.2:c.1128C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347705.2:c.696C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347706.2:c.696C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347707.2:c.579C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347708.2:c.579C>A - missense variant - [Sequence Ontology: SO:0001583]