ClinVar

NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463570 (on Assembly GRCh38)
• Chr8: 27321087 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)

HGVS:

• NC_000008.11:g.27463570G>A
• NG_015827.1:g.20727C>T
• NM_000742.4:c.873C>TMANE SELECT
• NM_001282455.2:c.828C>T
• NM_001347705.2:c.396C>T
• NM_001347706.2:c.396C>T
• NM_001347707.2:c.279C>T
• NM_001347708.2:c.279C>T
• NP_000733.2:p.Ser291=
• NP_001269384.1:p.Ser276=
• NP_001334634.1:p.Ser132=
• NP_001334635.1:p.Ser132=
• NP_001334636.1:p.Ser93=
• NP_001334637.1:p.Ser93=
• NC_000008.10:g.27321087G>A
• NM_000742.3:c.873C>T
• NP_000733.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs76140563

NCBI 1000 Genomes Browser:

rs76140563

Molecular consequence:

• NM_000742.4:c.873C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282455.2:c.828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347705.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347706.2:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347707.2:c.279C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347708.2:c.279C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1