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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs765948265

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:27463065 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/251192, GnomAD_exome)
A=0.000008 (1/121066, ExAC)
A=0.00000 (0/10678, ALFA) (+ 1 more)
C=0.00000 (0/10678, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CHRNA2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10678 G=1.00000 A=0.00000, C=0.00000
European Sub 6960 G=1.0000 A=0.0000, C=0.0000
African Sub 2294 G=1.0000 A=0.0000, C=0.0000
African Others Sub 84 G=1.00 A=0.00, C=0.00
African American Sub 2210 G=1.0000 A=0.0000, C=0.0000
Asian Sub 108 G=1.000 A=0.000, C=0.000
East Asian Sub 84 G=1.00 A=0.00, C=0.00
Other Asian Sub 24 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
South Asian Sub 94 G=1.00 A=0.00, C=0.00
Other Sub 466 G=1.000 A=0.000, C=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 251192 G=0.999996 C=0.000004
gnomAD - Exomes European Sub 135190 G=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48996 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 34574 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 16250 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10060 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6122 G=1.0000 C=0.0000
ExAC Global Study-wide 121066 G=0.999992 A=0.000008
ExAC Europe Sub 73160 G=0.99999 A=0.00001
ExAC Asian Sub 25056 G=1.00000 A=0.00000
ExAC American Sub 11566 G=1.00000 A=0.00000
ExAC African Sub 10384 G=1.00000 A=0.00000
ExAC Other Sub 900 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 10678 G=1.00000 A=0.00000, C=0.00000
Allele Frequency Aggregator European Sub 6960 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00, C=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 8 NC_000008.11:g.27463065G>A
GRCh38.p14 chr 8 NC_000008.11:g.27463065G>C
GRCh38.p14 chr 8 NC_000008.11:g.27463065G>T
GRCh37.p13 chr 8 NC_000008.10:g.27320582G>A
GRCh37.p13 chr 8 NC_000008.10:g.27320582G>C
GRCh37.p13 chr 8 NC_000008.10:g.27320582G>T
CHRNA2 RefSeqGene NG_015827.1:g.21232C>T
CHRNA2 RefSeqGene NG_015827.1:g.21232C>G
CHRNA2 RefSeqGene NG_015827.1:g.21232C>A
Gene: CHRNA2, cholinergic receptor nicotinic alpha 2 subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNA2 transcript variant 1 NM_000742.4:c.1378C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Leu460= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant 1 NM_000742.4:c.1378C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Leu460Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant 1 NM_000742.4:c.1378C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Leu460Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant 3 NM_001347705.2:c.901C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Leu301= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant 3 NM_001347705.2:c.901C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Leu301Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant 3 NM_001347705.2:c.901C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Leu301Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant 6 NM_001347708.2:c.784C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Leu262= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant 6 NM_001347708.2:c.784C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Leu262Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant 6 NM_001347708.2:c.784C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Leu262Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant 5 NM_001347707.2:c.784C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Leu262= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant 5 NM_001347707.2:c.784C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Leu262Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant 5 NM_001347707.2:c.784C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Leu262Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant 4 NM_001347706.2:c.901C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Leu301= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant 4 NM_001347706.2:c.901C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Leu301Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant 4 NM_001347706.2:c.901C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Leu301Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.1333C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Leu445= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.1333C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Leu445Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.1333C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Leu445Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant X1 XM_047421311.1:c.1378C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Leu460= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant X1 XM_047421311.1:c.1378C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Leu460Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant X1 XM_047421311.1:c.1378C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Leu460Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant X2 XM_047421312.1:c.1378C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Leu460= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant X2 XM_047421312.1:c.1378C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Leu460Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant X2 XM_047421312.1:c.1378C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Leu460Met L (Leu) > M (Met) Missense Variant
CHRNA2 transcript variant X3 XM_047421313.1:c.1378C>T L [CTG] > L [TTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Leu460= L (Leu) > L (Leu) Synonymous Variant
CHRNA2 transcript variant X3 XM_047421313.1:c.1378C>G L [CTG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Leu460Val L (Leu) > V (Val) Missense Variant
CHRNA2 transcript variant X3 XM_047421313.1:c.1378C>A L [CTG] > M [ATG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Leu460Met L (Leu) > M (Met) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 396418 )
ClinVar Accession Disease Names Clinical Significance
RCV000467256.4 not provided Likely-Benign
RCV001434451.3 Autosomal dominant nocturnal frontal lobe epilepsy Likely-Benign
Allele: C (allele ID: 946007 )
ClinVar Accession Disease Names Clinical Significance
RCV001236526.2 Autosomal dominant nocturnal frontal lobe epilepsy Uncertain-Significance
Allele: T (allele ID: 567752 )
ClinVar Accession Disease Names Clinical Significance
RCV000693581.1 Autosomal dominant nocturnal frontal lobe epilepsy Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C T
GRCh38.p14 chr 8 NC_000008.11:g.27463065= NC_000008.11:g.27463065G>A NC_000008.11:g.27463065G>C NC_000008.11:g.27463065G>T
GRCh37.p13 chr 8 NC_000008.10:g.27320582= NC_000008.10:g.27320582G>A NC_000008.10:g.27320582G>C NC_000008.10:g.27320582G>T
CHRNA2 RefSeqGene NG_015827.1:g.21232= NG_015827.1:g.21232C>T NG_015827.1:g.21232C>G NG_015827.1:g.21232C>A
CHRNA2 transcript variant 1 NM_000742.4:c.1378= NM_000742.4:c.1378C>T NM_000742.4:c.1378C>G NM_000742.4:c.1378C>A
CHRNA2 transcript variant 1 NM_000742.3:c.1378= NM_000742.3:c.1378C>T NM_000742.3:c.1378C>G NM_000742.3:c.1378C>A
CHRNA2 transcript variant 4 NM_001347706.2:c.901= NM_001347706.2:c.901C>T NM_001347706.2:c.901C>G NM_001347706.2:c.901C>A
CHRNA2 transcript variant 4 NM_001347706.1:c.901= NM_001347706.1:c.901C>T NM_001347706.1:c.901C>G NM_001347706.1:c.901C>A
CHRNA2 transcript variant 2 NM_001282455.2:c.1333= NM_001282455.2:c.1333C>T NM_001282455.2:c.1333C>G NM_001282455.2:c.1333C>A
CHRNA2 transcript variant 2 NM_001282455.1:c.1333= NM_001282455.1:c.1333C>T NM_001282455.1:c.1333C>G NM_001282455.1:c.1333C>A
CHRNA2 transcript variant 3 NM_001347705.2:c.901= NM_001347705.2:c.901C>T NM_001347705.2:c.901C>G NM_001347705.2:c.901C>A
CHRNA2 transcript variant 3 NM_001347705.1:c.901= NM_001347705.1:c.901C>T NM_001347705.1:c.901C>G NM_001347705.1:c.901C>A
CHRNA2 transcript variant 5 NM_001347707.2:c.784= NM_001347707.2:c.784C>T NM_001347707.2:c.784C>G NM_001347707.2:c.784C>A
CHRNA2 transcript variant 5 NM_001347707.1:c.784= NM_001347707.1:c.784C>T NM_001347707.1:c.784C>G NM_001347707.1:c.784C>A
CHRNA2 transcript variant 6 NM_001347708.2:c.784= NM_001347708.2:c.784C>T NM_001347708.2:c.784C>G NM_001347708.2:c.784C>A
CHRNA2 transcript variant 6 NM_001347708.1:c.784= NM_001347708.1:c.784C>T NM_001347708.1:c.784C>G NM_001347708.1:c.784C>A
CHRNA2 transcript variant X2 XM_047421312.1:c.1378= XM_047421312.1:c.1378C>T XM_047421312.1:c.1378C>G XM_047421312.1:c.1378C>A
CHRNA2 transcript variant X1 XM_047421311.1:c.1378= XM_047421311.1:c.1378C>T XM_047421311.1:c.1378C>G XM_047421311.1:c.1378C>A
CHRNA2 transcript variant X3 XM_047421313.1:c.1378= XM_047421313.1:c.1378C>T XM_047421313.1:c.1378C>G XM_047421313.1:c.1378C>A
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Leu460= NP_000733.2:p.Leu460= NP_000733.2:p.Leu460Val NP_000733.2:p.Leu460Met
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Leu301= NP_001334635.1:p.Leu301= NP_001334635.1:p.Leu301Val NP_001334635.1:p.Leu301Met
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Leu445= NP_001269384.1:p.Leu445= NP_001269384.1:p.Leu445Val NP_001269384.1:p.Leu445Met
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Leu301= NP_001334634.1:p.Leu301= NP_001334634.1:p.Leu301Val NP_001334634.1:p.Leu301Met
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Leu262= NP_001334636.1:p.Leu262= NP_001334636.1:p.Leu262Val NP_001334636.1:p.Leu262Met
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Leu262= NP_001334637.1:p.Leu262= NP_001334637.1:p.Leu262Val NP_001334637.1:p.Leu262Met
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Leu460= XP_047277268.1:p.Leu460= XP_047277268.1:p.Leu460Val XP_047277268.1:p.Leu460Met
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Leu460= XP_047277267.1:p.Leu460= XP_047277267.1:p.Leu460Val XP_047277267.1:p.Leu460Met
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Leu460= XP_047277269.1:p.Leu460= XP_047277269.1:p.Leu460Val XP_047277269.1:p.Leu460Met
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

4 SubSNP, 5 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689143290 Apr 01, 2015 (144)
2 GNOMAD ss2737071127 Nov 08, 2017 (151)
3 TOPMED ss4780088999 Apr 26, 2021 (155)
4 TOPMED ss4780089000 Apr 26, 2021 (155)
5 ExAC NC_000008.10 - 27320582 Oct 12, 2018 (152)
6 gnomAD - Exomes NC_000008.10 - 27320582 Jul 13, 2019 (153)
7 TopMed

Submission ignored due to conflicting rows:
Row 617466559 (NC_000008.11:27463064:G:A 2/264690)
Row 617466560 (NC_000008.11:27463064:G:C 1/264690)

- Apr 26, 2021 (155)
8 TopMed

Submission ignored due to conflicting rows:
Row 617466559 (NC_000008.11:27463064:G:A 2/264690)
Row 617466560 (NC_000008.11:27463064:G:C 1/264690)

- Apr 26, 2021 (155)
9 ALFA NC_000008.11 - 27463065 Apr 26, 2021 (155)
10 ClinVar RCV000467256.4 Oct 16, 2022 (156)
11 ClinVar RCV000693581.1 Jul 13, 2019 (153)
12 ClinVar RCV001236526.2 Apr 26, 2021 (155)
13 ClinVar RCV001434451.3 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9239108, ss1689143290 NC_000008.10:27320581:G:A NC_000008.11:27463064:G:A (self)
RCV000467256.4, RCV001434451.3, 5187805187, ss4780088999 NC_000008.11:27463064:G:A NC_000008.11:27463064:G:A (self)
6241058, ss2737071127 NC_000008.10:27320581:G:C NC_000008.11:27463064:G:C (self)
RCV001236526.2, 5187805187, ss4780089000 NC_000008.11:27463064:G:C NC_000008.11:27463064:G:C (self)
RCV000693581.1 NC_000008.11:27463064:G:T NC_000008.11:27463064:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs765948265

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07