ClinVar

NM_000742.4(CHRNA2):c.1161G>T (p.Val387=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463282 (on Assembly GRCh38)
• Chr8: 27320799 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1161G>T (p.Val387=)

HGVS:

• NC_000008.11:g.27463282C>A
• NG_015827.1:g.21015G>T
• NG_113786.1:g.990C>A
• NM_000742.4:c.1161G>TMANE SELECT
• NM_001282455.2:c.1116G>T
• NM_001347705.2:c.684G>T
• NM_001347706.2:c.684G>T
• NM_001347707.2:c.567G>T
• NM_001347708.2:c.567G>T
• NP_000733.2:p.Val387=
• NP_001269384.1:p.Val372=
• NP_001334634.1:p.Val228=
• NP_001334635.1:p.Val228=
• NP_001334636.1:p.Val189=
• NP_001334637.1:p.Val189=
• NC_000008.10:g.27320799C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000742.4:c.1161G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282455.2:c.1116G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347705.2:c.684G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347706.2:c.684G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347707.2:c.567G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347708.2:c.567G>T - synonymous variant - [Sequence Ontology: SO:0001819]