ClinVar

NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463195 (on Assembly GRCh38)
• Chr8: 27320712 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)

HGVS:

• NC_000008.11:g.27463195C>G
• NG_015827.1:g.21102G>C
• NM_000742.4:c.1248G>CMANE SELECT
• NM_001282455.2:c.1203G>C
• NM_001347705.2:c.771G>C
• NM_001347706.2:c.771G>C
• NM_001347707.2:c.654G>C
• NM_001347708.2:c.654G>C
• NP_000733.2:p.Val416=
• NP_001269384.1:p.Val401=
• NP_001334634.1:p.Val257=
• NP_001334635.1:p.Val257=
• NP_001334636.1:p.Val218=
• NP_001334637.1:p.Val218=
• NC_000008.10:g.27320712C>G
• NM_000742.3:c.1248G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs370878600

NCBI 1000 Genomes Browser:

rs370878600

Molecular consequence:

• NM_000742.4:c.1248G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282455.2:c.1203G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347705.2:c.771G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347706.2:c.771G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347707.2:c.654G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347708.2:c.654G>C - synonymous variant - [Sequence Ontology: SO:0001819]