ClinVar

NM_000742.4(CHRNA2):c.1104G>A (p.Gly368=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463339 (on Assembly GRCh38)
• Chr8: 27320856 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1104G>A (p.Gly368=)

HGVS:

• NC_000008.11:g.27463339C>T
• NG_015827.1:g.20958G>A
• NM_000742.4:c.1104G>AMANE SELECT
• NM_001282455.2:c.1059G>A
• NM_001347705.2:c.627G>A
• NM_001347706.2:c.627G>A
• NM_001347707.2:c.510G>A
• NM_001347708.2:c.510G>A
• NP_000733.2:p.Gly368=
• NP_001269384.1:p.Gly353=
• NP_001334634.1:p.Gly209=
• NP_001334635.1:p.Gly209=
• NP_001334636.1:p.Gly170=
• NP_001334637.1:p.Gly170=
• NC_000008.10:g.27320856C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2132651658

NCBI 1000 Genomes Browser:

rs2132651658

Molecular consequence:

• NM_000742.4:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282455.2:c.1059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347705.2:c.627G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347706.2:c.627G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347707.2:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347708.2:c.510G>A - synonymous variant - [Sequence Ontology: SO:0001819]