ClinVar

NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463316 (on Assembly GRCh38)
• Chr8: 27320833 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)

HGVS:

• NC_000008.11:g.27463316C>T
• NG_015827.1:g.20981G>A
• NM_000742.4:c.1127G>AMANE SELECT
• NM_001282455.2:c.1082G>A
• NM_001347705.2:c.650G>A
• NM_001347706.2:c.650G>A
• NM_001347707.2:c.533G>A
• NM_001347708.2:c.533G>A
• NP_000733.2:p.Arg376Gln
• NP_001269384.1:p.Arg361Gln
• NP_001334634.1:p.Arg217Gln
• NP_001334635.1:p.Arg217Gln
• NP_001334636.1:p.Arg178Gln
• NP_001334637.1:p.Arg178Gln
• NC_000008.10:g.27320833C>T
• NM_000742.3:c.1127G>A

This HGVS expression did not pass validation

Protein change:

R178Q

Links:

dbSNP: rs374512926

NCBI 1000 Genomes Browser:

rs374512926

Molecular consequence:

• NM_000742.4:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282455.2:c.1082G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347705.2:c.650G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347706.2:c.650G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347707.2:c.533G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347708.2:c.533G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1