Skip to main page content
Accesskeys

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 Aliases 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.

rs768183773

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr7:81964060 (GRCh38.p12) 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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
CACNA2D1 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr 7 NC_000007.14:g.81964060C>A
GRCh38.p12 chr 7 NC_000007.14:g.81964060C>G
GRCh38.p12 chr 7 NC_000007.14:g.81964060C>T
GRCh37.p13 chr 7 NC_000007.13:g.81593376C>A
GRCh37.p13 chr 7 NC_000007.13:g.81593376C>G
GRCh37.p13 chr 7 NC_000007.13:g.81593376C>T
CACNA2D1 RefSeqGene (LRG_437) NG_009358.2:g.484656G>T
CACNA2D1 RefSeqGene (LRG_437) NG_009358.2:g.484656G>C
CACNA2D1 RefSeqGene (LRG_437) NG_009358.2:g.484656G>A
Gene: CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CACNA2D1 transcript variant 2 NM_001302890.2:c. N/A Genic Downstream Transcript Variant
CACNA2D1 transcript variant 3 NM_001366867.1:c.2812G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein NP_001353796.1:p.Ala938Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant 3 NM_001366867.1:c.2812G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein NP_001353796.1:p.Ala938Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant 3 NM_001366867.1:c.2812G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein NP_001353796.1:p.Ala938Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant 1 NM_000722.4:c.2776G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein NP_000713.2:p.Ala926Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant 1 NM_000722.4:c.2776G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein NP_000713.2:p.Ala926Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant 1 NM_000722.4:c.2776G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein NP_000713.2:p.Ala926Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X7 XM_006716119.3:c.2758G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7 XP_006716182.1:p.Ala920Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X7 XM_006716119.3:c.2758G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7 XP_006716182.1:p.Ala920Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X7 XM_006716119.3:c.2758G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7 XP_006716182.1:p.Ala920Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X10 XM_006716120.3:c.2716G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X10 XP_006716183.1:p.Ala906Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X10 XM_006716120.3:c.2716G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X10 XP_006716183.1:p.Ala906Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X10 XM_006716120.3:c.2716G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X10 XP_006716183.1:p.Ala906Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X11 XM_017012588.1:c.2659G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X11 XP_016868077.1:p.Ala887Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X11 XM_017012588.1:c.2659G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X11 XP_016868077.1:p.Ala887Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X11 XM_017012588.1:c.2659G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X11 XP_016868077.1:p.Ala887Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X14 XM_006716121.3:c.1243G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X12 XP_006716184.1:p.Ala415Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X14 XM_006716121.3:c.1243G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X12 XP_006716184.1:p.Ala415Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X14 XM_006716121.3:c.1243G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X12 XP_006716184.1:p.Ala415Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X1 XM_006716118.3:c.2833G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1 XP_006716181.1:p.Ala945Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X1 XM_006716118.3:c.2833G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1 XP_006716181.1:p.Ala945Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X1 XM_006716118.3:c.2833G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1 XP_006716181.1:p.Ala945Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X2 XM_011516570.3:c.2833G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2 XP_011514872.1:p.Ala945Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X2 XM_011516570.3:c.2833G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2 XP_011514872.1:p.Ala945Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X2 XM_011516570.3:c.2833G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2 XP_011514872.1:p.Ala945Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X3 XM_011516571.3:c.2818G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3 XP_011514873.1:p.Ala940Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X3 XM_011516571.3:c.2818G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3 XP_011514873.1:p.Ala940Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X3 XM_011516571.3:c.2818G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3 XP_011514873.1:p.Ala940Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X5 XM_011516572.3:c.2797G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5 XP_011514874.1:p.Ala933Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X5 XM_011516572.3:c.2797G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5 XP_011514874.1:p.Ala933Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X5 XM_011516572.3:c.2797G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5 XP_011514874.1:p.Ala933Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X6 XM_005250572.3:c.2761G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6 XP_005250629.1:p.Ala921Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X6 XM_005250572.3:c.2761G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6 XP_005250629.1:p.Ala921Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X6 XM_005250572.3:c.2761G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6 XP_005250629.1:p.Ala921Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X8 XM_005250573.3:c.2755G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X8 XP_005250630.1:p.Ala919Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X8 XM_005250573.3:c.2755G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X8 XP_005250630.1:p.Ala919Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X8 XM_005250573.3:c.2755G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X8 XP_005250630.1:p.Ala919Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X9 XM_005250574.3:c.2740G>T A [GCC] > S [TCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X9 XP_005250631.1:p.Ala914Ser A (Ala) > S (Ser) Missense Variant
CACNA2D1 transcript variant X9 XM_005250574.3:c.2740G>C A [GCC] > P [CCC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X9 XP_005250631.1:p.Ala914Pro A (Ala) > P (Pro) Missense Variant
CACNA2D1 transcript variant X9 XM_005250574.3:c.2740G>A A [GCC] > T [ACC] Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X9 XP_005250631.1:p.Ala914Thr A (Ala) > T (Thr) Missense Variant
CACNA2D1 transcript variant X13 XR_001744874.2:n.2569G>T N/A Non Coding Transcript Variant
CACNA2D1 transcript variant X13 XR_001744874.2:n.2569G>C N/A Non Coding Transcript Variant
CACNA2D1 transcript variant X13 XR_001744874.2:n.2569G>A N/A Non Coding Transcript Variant
CACNA2D1 transcript variant X12 XR_001744873.2:n. N/A Genic Downstream Transcript 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: G (allele ID: 407264 )
ClinVar Accession Disease Names Clinical Significance
RCV000486444.1 not provided Uncertain-Significance
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").

None
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 C= A G T Note
GRCh38.p12 chr 7 NC_000007.14:...

NC_000007.14:g.81964060=

NC_000007.14:...

NC_000007.14:g.81964060C>A

NC_000007.14:...

NC_000007.14:g.81964060C>G

NC_000007.14:...

NC_000007.14:g.81964060C>T

GRCh37.p13 chr 7 NC_000007.13:...

NC_000007.13:g.81593376=

NC_000007.13:...

NC_000007.13:g.81593376C>A

NC_000007.13:...

NC_000007.13:g.81593376C>G

NC_000007.13:...

NC_000007.13:g.81593376C>T

CACNA2D1 RefSeqGene (LRG_437) NG_009358.2:g...

NG_009358.2:g.484656=

NG_009358.2:g...

NG_009358.2:g.484656G>T

NG_009358.2:g...

NG_009358.2:g.484656G>C

NG_009358.2:g...

NG_009358.2:g.484656G>A

CACNA2D1 transcript variant 1 NM_000722.4:c...

NM_000722.4:c.2776=

NM_000722.4:c...

NM_000722.4:c.2776G>T

NM_000722.4:c...

NM_000722.4:c.2776G>C

NM_000722.4:c...

NM_000722.4:c.2776G>A

CACNA2D1 transcript variant 1 NM_000722.3:c...

NM_000722.3:c.2776=

NM_000722.3:c...

NM_000722.3:c.2776G>T

NM_000722.3:c...

NM_000722.3:c.2776G>C

NM_000722.3:c...

NM_000722.3:c.2776G>A

CACNA2D1 transcript NM_000722.2:c...

NM_000722.2:c.2776=

NM_000722.2:c...

NM_000722.2:c.2776G>T

NM_000722.2:c...

NM_000722.2:c.2776G>C

NM_000722.2:c...

NM_000722.2:c.2776G>A

CACNA2D1 transcript variant 3 NM_001366867....

NM_001366867.1:c.2812=

NM_001366867....

NM_001366867.1:c.2812G>T

NM_001366867....

NM_001366867.1:c.2812G>C

NM_001366867....

NM_001366867.1:c.2812G>A

CACNA2D1 transcript variant X7 XM_006716119....

XM_006716119.3:c.2758=

XM_006716119....

XM_006716119.3:c.2758G>T

XM_006716119....

XM_006716119.3:c.2758G>C

XM_006716119....

XM_006716119.3:c.2758G>A

CACNA2D1 transcript variant X10 XM_006716120....

XM_006716120.3:c.2716=

XM_006716120....

XM_006716120.3:c.2716G>T

XM_006716120....

XM_006716120.3:c.2716G>C

XM_006716120....

XM_006716120.3:c.2716G>A

CACNA2D1 transcript variant X1 XM_006716118....

XM_006716118.3:c.2833=

XM_006716118....

XM_006716118.3:c.2833G>T

XM_006716118....

XM_006716118.3:c.2833G>C

XM_006716118....

XM_006716118.3:c.2833G>A

CACNA2D1 transcript variant X3 XM_011516571....

XM_011516571.3:c.2818=

XM_011516571....

XM_011516571.3:c.2818G>T

XM_011516571....

XM_011516571.3:c.2818G>C

XM_011516571....

XM_011516571.3:c.2818G>A

CACNA2D1 transcript variant X5 XM_011516572....

XM_011516572.3:c.2797=

XM_011516572....

XM_011516572.3:c.2797G>T

XM_011516572....

XM_011516572.3:c.2797G>C

XM_011516572....

XM_011516572.3:c.2797G>A

CACNA2D1 transcript variant X6 XM_005250572....

XM_005250572.3:c.2761=

XM_005250572....

XM_005250572.3:c.2761G>T

XM_005250572....

XM_005250572.3:c.2761G>C

XM_005250572....

XM_005250572.3:c.2761G>A

CACNA2D1 transcript variant X6 XM_005250572....

XM_005250572.1:c.2761=

XM_005250572....

XM_005250572.1:c.2761G>T

XM_005250572....

XM_005250572.1:c.2761G>C

XM_005250572....

XM_005250572.1:c.2761G>A

CACNA2D1 transcript variant X8 XM_005250573....

XM_005250573.3:c.2755=

XM_005250573....

XM_005250573.3:c.2755G>T

XM_005250573....

XM_005250573.3:c.2755G>C

XM_005250573....

XM_005250573.3:c.2755G>A

CACNA2D1 transcript variant X8 XM_005250573....

XM_005250573.1:c.2755=

XM_005250573....

XM_005250573.1:c.2755G>T

XM_005250573....

XM_005250573.1:c.2755G>C

XM_005250573....

XM_005250573.1:c.2755G>A

CACNA2D1 transcript variant X9 XM_005250574....

XM_005250574.3:c.2740=

XM_005250574....

XM_005250574.3:c.2740G>T

XM_005250574....

XM_005250574.3:c.2740G>C

XM_005250574....

XM_005250574.3:c.2740G>A

CACNA2D1 transcript variant X9 XM_005250574....

XM_005250574.1:c.2740=

XM_005250574....

XM_005250574.1:c.2740G>T

XM_005250574....

XM_005250574.1:c.2740G>C

XM_005250574....

XM_005250574.1:c.2740G>A

CACNA2D1 transcript variant X14 XM_006716121....

XM_006716121.3:c.1243=

XM_006716121....

XM_006716121.3:c.1243G>T

XM_006716121....

XM_006716121.3:c.1243G>C

XM_006716121....

XM_006716121.3:c.1243G>A

CACNA2D1 transcript variant X2 XM_011516570....

XM_011516570.3:c.2833=

XM_011516570....

XM_011516570.3:c.2833G>T

XM_011516570....

XM_011516570.3:c.2833G>C

XM_011516570....

XM_011516570.3:c.2833G>A

CACNA2D1 transcript variant X13 XR_001744874....

XR_001744874.2:n.2569=

XR_001744874....

XR_001744874.2:n.2569G>T

XR_001744874....

XR_001744874.2:n.2569G>C

XR_001744874....

XR_001744874.2:n.2569G>A

CACNA2D1 transcript variant X11 XM_017012588....

XM_017012588.1:c.2659=

XM_017012588....

XM_017012588.1:c.2659G>T

XM_017012588....

XM_017012588.1:c.2659G>C

XM_017012588....

XM_017012588.1:c.2659G>A

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein NP_000713.2:p...

NP_000713.2:p.Ala926=

NP_000713.2:p...

NP_000713.2:p.Ala926Ser

NP_000713.2:p...

NP_000713.2:p.Ala926Pro

NP_000713.2:p...

NP_000713.2:p.Ala926Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 3 preproprotein NP_001353796....

NP_001353796.1:p.Ala938=

NP_001353796....

NP_001353796.1:p.Ala938Ser

NP_001353796....

NP_001353796.1:p.Ala938Pro

NP_001353796....

NP_001353796.1:p.Ala938Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X7 XP_006716182....

XP_006716182.1:p.Ala920=

XP_006716182....

XP_006716182.1:p.Ala920Ser

XP_006716182....

XP_006716182.1:p.Ala920Pro

XP_006716182....

XP_006716182.1:p.Ala920Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X10 XP_006716183....

XP_006716183.1:p.Ala906=

XP_006716183....

XP_006716183.1:p.Ala906Ser

XP_006716183....

XP_006716183.1:p.Ala906Pro

XP_006716183....

XP_006716183.1:p.Ala906Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X1 XP_006716181....

XP_006716181.1:p.Ala945=

XP_006716181....

XP_006716181.1:p.Ala945Ser

XP_006716181....

XP_006716181.1:p.Ala945Pro

XP_006716181....

XP_006716181.1:p.Ala945Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X3 XP_011514873....

XP_011514873.1:p.Ala940=

XP_011514873....

XP_011514873.1:p.Ala940Ser

XP_011514873....

XP_011514873.1:p.Ala940Pro

XP_011514873....

XP_011514873.1:p.Ala940Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X5 XP_011514874....

XP_011514874.1:p.Ala933=

XP_011514874....

XP_011514874.1:p.Ala933Ser

XP_011514874....

XP_011514874.1:p.Ala933Pro

XP_011514874....

XP_011514874.1:p.Ala933Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X6 XP_005250629....

XP_005250629.1:p.Ala921=

XP_005250629....

XP_005250629.1:p.Ala921Ser

XP_005250629....

XP_005250629.1:p.Ala921Pro

XP_005250629....

XP_005250629.1:p.Ala921Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X8 XP_005250630....

XP_005250630.1:p.Ala919=

XP_005250630....

XP_005250630.1:p.Ala919Ser

XP_005250630....

XP_005250630.1:p.Ala919Pro

XP_005250630....

XP_005250630.1:p.Ala919Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X9 XP_005250631....

XP_005250631.1:p.Ala914=

XP_005250631....

XP_005250631.1:p.Ala914Ser

XP_005250631....

XP_005250631.1:p.Ala914Pro

XP_005250631....

XP_005250631.1:p.Ala914Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X12 XP_006716184....

XP_006716184.1:p.Ala415=

XP_006716184....

XP_006716184.1:p.Ala415Ser

XP_006716184....

XP_006716184.1:p.Ala415Pro

XP_006716184....

XP_006716184.1:p.Ala415Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X2 XP_011514872....

XP_011514872.1:p.Ala945=

XP_011514872....

XP_011514872.1:p.Ala945Ser

XP_011514872....

XP_011514872.1:p.Ala945Pro

XP_011514872....

XP_011514872.1:p.Ala945Thr

voltage-dependent calcium channel subunit alpha-2/delta-1 isoform X11 XP_016868077....

XP_016868077.1:p.Ala887=

XP_016868077....

XP_016868077.1:p.Ala887Ser

XP_016868077....

XP_016868077.1:p.Ala887Pro

XP_016868077....

XP_016868077.1:p.Ala887Thr

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, 4 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1688793501 Apr 01, 2015 (144)
2 EVA_EXAC ss1688793502 Apr 01, 2015 (144)
3 CLINVAR ss2137523874 Jun 02, 2017 (150)
4 GNOMAD ss2736524268 Nov 08, 2017 (151)
5 ExAC

Submission ignored due to conflicting rows:
Row 8863461 (NC_000007.13:81593375:C:C 117047/117048, NC_000007.13:81593375:C:A 1/117048)
Row 8863462 (NC_000007.13:81593375:C:C 117047/117048, NC_000007.13:81593375:C:T 1/117048)

- Oct 12, 2018 (152)
6 ExAC

Submission ignored due to conflicting rows:
Row 8863461 (NC_000007.13:81593375:C:C 117047/117048, NC_000007.13:81593375:C:A 1/117048)
Row 8863462 (NC_000007.13:81593375:C:C 117047/117048, NC_000007.13:81593375:C:T 1/117048)

- Oct 12, 2018 (152)
7 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5686275 (NC_000007.13:81593375:C:C 248881/248882, NC_000007.13:81593375:C:A 1/248882)
Row 5686276 (NC_000007.13:81593375:C:C 248881/248882, NC_000007.13:81593375:C:T 1/248882)

- Jul 13, 2019 (153)
8 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 5686275 (NC_000007.13:81593375:C:C 248881/248882, NC_000007.13:81593375:C:A 1/248882)
Row 5686276 (NC_000007.13:81593375:C:C 248881/248882, NC_000007.13:81593375:C:T 1/248882)

- Jul 13, 2019 (153)
9 ClinVar RCV000486444.1 Oct 12, 2018 (152)
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
ss1688793502, ss2736524268 NC_000007.13:81593375:C:A NC_000007.14:81964059:C:A (self)
RCV000486444.1, ss2137523874 NC_000007.14:81964059:C:G NC_000007.14:81964059:C:G (self)
ss1688793501, ss2736524268 NC_000007.13:81593375:C:T NC_000007.14:81964059:C: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 rs768183773

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.post308+0fe9b3b