ClinVar

NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 27463009 (on Assembly GRCh38)
• Chr8: 27320526 (on Assembly GRCh37)

Preferred name:

NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)

Other names:

p.D478E:GAC>GAA

HGVS:

• NC_000008.11:g.27463009G>T
• NG_015827.1:g.21288C>A
• NM_000742.4:c.1434C>AMANE SELECT
• NM_001282455.2:c.1389C>A
• NM_001347705.2:c.957C>A
• NM_001347706.2:c.957C>A
• NM_001347707.2:c.840C>A
• NM_001347708.2:c.840C>A
• NP_000733.2:p.Asp478Glu
• NP_001269384.1:p.Asp463Glu
• NP_001334634.1:p.Asp319Glu
• NP_001334635.1:p.Asp319Glu
• NP_001334636.1:p.Asp280Glu
• NP_001334637.1:p.Asp280Glu
• NC_000008.10:g.27320526G>T
• NM_000742.3:c.1434C>A

This HGVS expression did not pass validation

Protein change:

D280E

Links:

dbSNP: rs56344740

NCBI 1000 Genomes Browser:

rs56344740

Molecular consequence:

• NM_000742.4:c.1434C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282455.2:c.1389C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347705.2:c.957C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347706.2:c.957C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347707.2:c.840C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347708.2:c.840C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1