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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.

rs1488618130

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:23566681 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/251458, GnomAD_exome)
G=0.00007 (2/28258, 14KJPN)
G=0.00012 (2/16760, 8.3KJPN) (+ 2 more)
G=0.00000 (0/14050, ALFA)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AP1G2 : Missense Variant
AP1G2-AS1 : Non Coding Transcript 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 G=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A


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 251458 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 135396 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49010 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34582 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 C=1.0000 T=0.0000
14KJPN JAPANESE Study-wide 28258 C=0.99993 G=0.00007
8.3KJPN JAPANESE Study-wide 16760 C=0.99988 G=0.00012
Allele Frequency Aggregator Total Global 14050 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, T=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 14 NC_000014.9:g.23566681C>G
GRCh38.p14 chr 14 NC_000014.9:g.23566681C>T
GRCh37.p13 chr 14 NC_000014.8:g.24035890C>G
GRCh37.p13 chr 14 NC_000014.8:g.24035890C>T
AP1G2 RefSeqGene NG_011937.1:g.6390G>C
AP1G2 RefSeqGene NG_011937.1:g.6390G>A
Gene: AP1G2, adaptor related protein complex 1 subunit gamma 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AP1G2 transcript variant 3 NM_001282474.2:c.-1047-26…

NM_001282474.2:c.-1047-262G>C

N/A Intron Variant
AP1G2 transcript variant 4 NM_001282475.2:c.-58-262G…

NM_001282475.2:c.-58-262G>C

N/A Intron Variant
AP1G2 transcript variant 5 NM_001354673.2:c.-58-262G…

NM_001354673.2:c.-58-262G>C

N/A Intron Variant
AP1G2 transcript variant 6 NM_001354674.2:c.-876-262…

NM_001354674.2:c.-876-262G>C

N/A Intron Variant
AP1G2 transcript variant 7 NM_001354675.2:c.-988-262…

NM_001354675.2:c.-988-262G>C

N/A Intron Variant
AP1G2 transcript variant 8 NM_001354677.2:c.-926-262…

NM_001354677.2:c.-926-262G>C

N/A Intron Variant
AP1G2 transcript variant 10 NM_001354681.2:c.-919= N/A 5 Prime UTR Variant
AP1G2 transcript variant 1 NM_003917.5:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 1 NP_003908.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant 1 NM_003917.5:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform 1 NP_003908.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant 11 NR_148938.2:n.268G>C N/A Non Coding Transcript Variant
AP1G2 transcript variant 11 NR_148938.2:n.268G>A N/A Non Coding Transcript Variant
AP1G2 transcript variant 9 NR_148937.2:n.556G>C N/A Non Coding Transcript Variant
AP1G2 transcript variant 9 NR_148937.2:n.556G>A N/A Non Coding Transcript Variant
AP1G2 transcript variant X26 XM_047431866.1:c.-74= N/A 5 Prime UTR Variant
AP1G2 transcript variant X23 XM_047431863.1:c. N/A Genic Upstream Transcript Variant
AP1G2 transcript variant X1 XM_047431849.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X1 XP_047287805.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X1 XM_047431849.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X1 XP_047287805.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X2 XM_005268167.4:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268224.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X2 XM_005268167.4:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268224.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X3 XM_005268168.6:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268225.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X3 XM_005268168.6:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268225.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X4 XM_005268170.4:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268227.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X4 XM_005268170.4:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268227.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X5 XM_005268169.4:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268226.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X5 XM_005268169.4:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268226.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X6 XM_006720301.4:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_006720364.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X6 XM_006720301.4:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X2 XP_006720364.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X7 XM_011537283.4:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X3 XP_011535585.2:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X7 XM_011537283.4:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X3 XP_011535585.2:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X8 XM_047431850.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X4 XP_047287806.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X8 XM_047431850.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X4 XP_047287806.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X9 XM_047431851.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287807.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X9 XM_047431851.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287807.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X10 XM_047431852.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287808.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X10 XM_047431852.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287808.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X11 XM_047431853.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287809.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X11 XM_047431853.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287809.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X12 XM_047431854.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287810.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X12 XM_047431854.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287810.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X13 XM_047431855.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287811.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X13 XM_047431855.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287811.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X14 XM_005268173.4:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268230.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X14 XM_005268173.4:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268230.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X15 XM_005268172.4:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268229.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X15 XM_005268172.4:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268229.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X16 XM_047431856.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X7 XP_047287812.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X16 XM_047431856.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X7 XP_047287812.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X17 XM_047431857.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287813.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X17 XM_047431857.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287813.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X18 XM_047431858.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287814.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X18 XM_047431858.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287814.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X19 XM_047431859.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287815.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X19 XM_047431859.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287815.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X20 XM_047431860.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X9 XP_047287816.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X20 XM_047431860.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X9 XP_047287816.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X21 XM_047431861.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X10 XP_047287817.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X21 XM_047431861.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X10 XP_047287817.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X22 XM_047431862.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X11 XP_047287818.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X22 XM_047431862.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X11 XP_047287818.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X24 XM_047431864.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X13 XP_047287820.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X24 XM_047431864.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X13 XP_047287820.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X25 XM_047431865.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X14 XP_047287821.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X25 XM_047431865.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X14 XP_047287821.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X27 XM_047431867.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287823.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X27 XM_047431867.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287823.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X28 XM_047431868.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287824.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X28 XM_047431868.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287824.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X29 XM_047431869.1:c.210G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287825.1:p.Glu70Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X29 XM_047431869.1:c.210G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287825.1:p.Glu70= E (Glu) > E (Glu) Synonymous Variant
AP1G2 transcript variant X30 XM_047431870.1:c.312G>C E [GAG] > D [GAC] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X17 XP_047287826.1:p.Glu104Asp E (Glu) > D (Asp) Missense Variant
AP1G2 transcript variant X30 XM_047431870.1:c.312G>A E [GAG] > E [GAA] Coding Sequence Variant
AP-1 complex subunit gamma-like 2 isoform X17 XP_047287826.1:p.Glu104= E (Glu) > E (Glu) Synonymous Variant
Gene: AP1G2-AS1, AP1G2 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AP1G2-AS1 transcript NR_110555.1:n.2117C>G N/A Non Coding Transcript Variant
AP1G2-AS1 transcript NR_110555.1:n.2117C>T N/A Non Coding 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.

Not Reported in ClinVar
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= G T
GRCh38.p14 chr 14 NC_000014.9:g.23566681= NC_000014.9:g.23566681C>G NC_000014.9:g.23566681C>T
GRCh37.p13 chr 14 NC_000014.8:g.24035890= NC_000014.8:g.24035890C>G NC_000014.8:g.24035890C>T
AP1G2 RefSeqGene NG_011937.1:g.6390= NG_011937.1:g.6390G>C NG_011937.1:g.6390G>A
AP1G2 transcript variant 1 NM_003917.5:c.210= NM_003917.5:c.210G>C NM_003917.5:c.210G>A
AP1G2 transcript variant 1 NM_003917.4:c.210= NM_003917.4:c.210G>C NM_003917.4:c.210G>A
AP1G2 transcript NM_003917.3:c.210= NM_003917.3:c.210G>C NM_003917.3:c.210G>A
AP1G2 transcript NM_003917.2:c.210= NM_003917.2:c.210G>C NM_003917.2:c.210G>A
AP1G2 transcript variant 9 NR_148937.2:n.556= NR_148937.2:n.556G>C NR_148937.2:n.556G>A
AP1G2 transcript variant 9 NR_148937.1:n.278= NR_148937.1:n.278G>C NR_148937.1:n.278G>A
AP1G2 transcript variant 10 NM_001354681.2:c.-919= NM_001354681.2:c.-919G>C NM_001354681.2:c.-919G>A
AP1G2 transcript variant 10 NM_001354681.1:c.-919= NM_001354681.1:c.-919G>C NM_001354681.1:c.-919G>A
AP1G2 transcript variant 11 NR_148938.2:n.268= NR_148938.2:n.268G>C NR_148938.2:n.268G>A
AP1G2 transcript variant 11 NR_148938.1:n.265= NR_148938.1:n.265G>C NR_148938.1:n.265G>A
AP1G2 transcript variant X3 XM_005268168.6:c.210= XM_005268168.6:c.210G>C XM_005268168.6:c.210G>A
AP1G2 transcript variant X2 XM_005268168.5:c.210= XM_005268168.5:c.210G>C XM_005268168.5:c.210G>A
AP1G2 transcript variant X2 XM_005268168.4:c.210= XM_005268168.4:c.210G>C XM_005268168.4:c.210G>A
AP1G2 transcript variant X3 XM_005268168.3:c.210= XM_005268168.3:c.210G>C XM_005268168.3:c.210G>A
AP1G2 transcript variant X3 XM_005268168.2:c.210= XM_005268168.2:c.210G>C XM_005268168.2:c.210G>A
AP1G2 transcript variant X3 XM_005268168.1:c.210= XM_005268168.1:c.210G>C XM_005268168.1:c.210G>A
AP1G2 transcript variant X5 XM_005268169.4:c.210= XM_005268169.4:c.210G>C XM_005268169.4:c.210G>A
AP1G2 transcript variant X5 XM_005268169.3:c.210= XM_005268169.3:c.210G>C XM_005268169.3:c.210G>A
AP1G2 transcript variant X5 XM_005268169.2:c.210= XM_005268169.2:c.210G>C XM_005268169.2:c.210G>A
AP1G2 transcript variant X4 XM_005268169.1:c.210= XM_005268169.1:c.210G>C XM_005268169.1:c.210G>A
AP1G2 transcript variant X7 XM_011537283.4:c.312= XM_011537283.4:c.312G>C XM_011537283.4:c.312G>A
AP1G2 transcript variant X6 XM_011537283.3:c.210= XM_011537283.3:c.210G>C XM_011537283.3:c.210G>A
AP1G2 transcript variant X6 XM_011537283.2:c.210= XM_011537283.2:c.210G>C XM_011537283.2:c.210G>A
AP1G2 transcript variant X7 XM_011537283.1:c.210= XM_011537283.1:c.210G>C XM_011537283.1:c.210G>A
AP1G2 transcript variant X6 XM_006720301.4:c.210= XM_006720301.4:c.210G>C XM_006720301.4:c.210G>A
AP1G2 transcript variant X3 XM_006720301.3:c.210= XM_006720301.3:c.210G>C XM_006720301.3:c.210G>A
AP1G2 transcript variant X6 XM_006720301.2:c.210= XM_006720301.2:c.210G>C XM_006720301.2:c.210G>A
AP1G2 transcript variant X21 XM_006720301.1:c.210= XM_006720301.1:c.210G>C XM_006720301.1:c.210G>A
AP1G2 transcript variant X15 XM_005268172.4:c.210= XM_005268172.4:c.210G>C XM_005268172.4:c.210G>A
AP1G2 transcript variant X10 XM_005268172.3:c.210= XM_005268172.3:c.210G>C XM_005268172.3:c.210G>A
AP1G2 transcript variant X9 XM_005268172.2:c.210= XM_005268172.2:c.210G>C XM_005268172.2:c.210G>A
AP1G2 transcript variant X7 XM_005268172.1:c.210= XM_005268172.1:c.210G>C XM_005268172.1:c.210G>A
AP1G2 transcript variant X2 XM_005268167.4:c.210= XM_005268167.4:c.210G>C XM_005268167.4:c.210G>A
AP1G2 transcript variant X1 XM_005268167.3:c.210= XM_005268167.3:c.210G>C XM_005268167.3:c.210G>A
AP1G2 transcript variant X1 XM_005268167.2:c.210= XM_005268167.2:c.210G>C XM_005268167.2:c.210G>A
AP1G2 transcript variant X2 XM_005268167.1:c.210= XM_005268167.1:c.210G>C XM_005268167.1:c.210G>A
AP1G2 transcript variant X4 XM_005268170.4:c.210= XM_005268170.4:c.210G>C XM_005268170.4:c.210G>A
AP1G2 transcript variant X4 XM_005268170.3:c.210= XM_005268170.3:c.210G>C XM_005268170.3:c.210G>A
AP1G2 transcript variant X4 XM_005268170.2:c.210= XM_005268170.2:c.210G>C XM_005268170.2:c.210G>A
AP1G2 transcript variant X5 XM_005268170.1:c.210= XM_005268170.1:c.210G>C XM_005268170.1:c.210G>A
AP1G2 transcript variant X14 XM_005268173.4:c.210= XM_005268173.4:c.210G>C XM_005268173.4:c.210G>A
AP1G2 transcript variant X9 XM_005268173.3:c.210= XM_005268173.3:c.210G>C XM_005268173.3:c.210G>A
AP1G2 transcript variant X8 XM_005268173.2:c.210= XM_005268173.2:c.210G>C XM_005268173.2:c.210G>A
AP1G2 transcript variant X8 XM_005268173.1:c.210= XM_005268173.1:c.210G>C XM_005268173.1:c.210G>A
AP1G2 transcript variant 2 NM_080545.1:c.210= NM_080545.1:c.210G>C NM_080545.1:c.210G>A
AP1G2-AS1 transcript NR_110555.1:n.2117= NR_110555.1:n.2117C>G NR_110555.1:n.2117C>T
AP1G2 transcript variant X1 XM_047431849.1:c.312= XM_047431849.1:c.312G>C XM_047431849.1:c.312G>A
AP1G2 transcript variant X12 XM_047431854.1:c.210= XM_047431854.1:c.210G>C XM_047431854.1:c.210G>A
AP1G2 transcript variant X11 XM_047431853.1:c.210= XM_047431853.1:c.210G>C XM_047431853.1:c.210G>A
AP1G2 transcript variant X8 XM_047431850.1:c.312= XM_047431850.1:c.312G>C XM_047431850.1:c.312G>A
AP1G2 transcript variant X10 XM_047431852.1:c.210= XM_047431852.1:c.210G>C XM_047431852.1:c.210G>A
AP1G2 transcript variant X16 XM_047431856.1:c.312= XM_047431856.1:c.312G>C XM_047431856.1:c.312G>A
AP1G2 transcript variant X13 XM_047431855.1:c.210= XM_047431855.1:c.210G>C XM_047431855.1:c.210G>A
AP1G2 transcript variant X9 XM_047431851.1:c.210= XM_047431851.1:c.210G>C XM_047431851.1:c.210G>A
AP1G2 transcript variant X18 XM_047431858.1:c.210= XM_047431858.1:c.210G>C XM_047431858.1:c.210G>A
AP1G2 transcript variant X26 XM_047431866.1:c.-74= XM_047431866.1:c.-74G>C XM_047431866.1:c.-74G>A
AP1G2 transcript variant X17 XM_047431857.1:c.210= XM_047431857.1:c.210G>C XM_047431857.1:c.210G>A
AP1G2 transcript variant X19 XM_047431859.1:c.210= XM_047431859.1:c.210G>C XM_047431859.1:c.210G>A
AP1G2 transcript variant X20 XM_047431860.1:c.312= XM_047431860.1:c.312G>C XM_047431860.1:c.312G>A
AP1G2 transcript variant X21 XM_047431861.1:c.312= XM_047431861.1:c.312G>C XM_047431861.1:c.312G>A
AP1G2 transcript variant X22 XM_047431862.1:c.312= XM_047431862.1:c.312G>C XM_047431862.1:c.312G>A
AP1G2 transcript variant X29 XM_047431869.1:c.210= XM_047431869.1:c.210G>C XM_047431869.1:c.210G>A
AP1G2 transcript variant X25 XM_047431865.1:c.312= XM_047431865.1:c.312G>C XM_047431865.1:c.312G>A
AP1G2 transcript variant X24 XM_047431864.1:c.210= XM_047431864.1:c.210G>C XM_047431864.1:c.210G>A
AP1G2 transcript variant X27 XM_047431867.1:c.210= XM_047431867.1:c.210G>C XM_047431867.1:c.210G>A
AP1G2 transcript variant X28 XM_047431868.1:c.210= XM_047431868.1:c.210G>C XM_047431868.1:c.210G>A
AP1G2 transcript variant X30 XM_047431870.1:c.312= XM_047431870.1:c.312G>C XM_047431870.1:c.312G>A
AP-1 complex subunit gamma-like 2 isoform 1 NP_003908.1:p.Glu70= NP_003908.1:p.Glu70Asp NP_003908.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268225.1:p.Glu70= XP_005268225.1:p.Glu70Asp XP_005268225.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268226.1:p.Glu70= XP_005268226.1:p.Glu70Asp XP_005268226.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X3 XP_011535585.2:p.Glu104= XP_011535585.2:p.Glu104Asp XP_011535585.2:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X2 XP_006720364.1:p.Glu70= XP_006720364.1:p.Glu70Asp XP_006720364.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268229.1:p.Glu70= XP_005268229.1:p.Glu70Asp XP_005268229.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268224.1:p.Glu70= XP_005268224.1:p.Glu70Asp XP_005268224.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X2 XP_005268227.1:p.Glu70= XP_005268227.1:p.Glu70Asp XP_005268227.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X6 XP_005268230.1:p.Glu70= XP_005268230.1:p.Glu70Asp XP_005268230.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X1 XP_047287805.1:p.Glu104= XP_047287805.1:p.Glu104Asp XP_047287805.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287810.1:p.Glu70= XP_047287810.1:p.Glu70Asp XP_047287810.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287809.1:p.Glu70= XP_047287809.1:p.Glu70Asp XP_047287809.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X4 XP_047287806.1:p.Glu104= XP_047287806.1:p.Glu104Asp XP_047287806.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287808.1:p.Glu70= XP_047287808.1:p.Glu70Asp XP_047287808.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X7 XP_047287812.1:p.Glu104= XP_047287812.1:p.Glu104Asp XP_047287812.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X6 XP_047287811.1:p.Glu70= XP_047287811.1:p.Glu70Asp XP_047287811.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X5 XP_047287807.1:p.Glu70= XP_047287807.1:p.Glu70Asp XP_047287807.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287814.1:p.Glu70= XP_047287814.1:p.Glu70Asp XP_047287814.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287813.1:p.Glu70= XP_047287813.1:p.Glu70Asp XP_047287813.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X8 XP_047287815.1:p.Glu70= XP_047287815.1:p.Glu70Asp XP_047287815.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X9 XP_047287816.1:p.Glu104= XP_047287816.1:p.Glu104Asp XP_047287816.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X10 XP_047287817.1:p.Glu104= XP_047287817.1:p.Glu104Asp XP_047287817.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X11 XP_047287818.1:p.Glu104= XP_047287818.1:p.Glu104Asp XP_047287818.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287825.1:p.Glu70= XP_047287825.1:p.Glu70Asp XP_047287825.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X14 XP_047287821.1:p.Glu104= XP_047287821.1:p.Glu104Asp XP_047287821.1:p.Glu104=
AP-1 complex subunit gamma-like 2 isoform X13 XP_047287820.1:p.Glu70= XP_047287820.1:p.Glu70Asp XP_047287820.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287823.1:p.Glu70= XP_047287823.1:p.Glu70Asp XP_047287823.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X16 XP_047287824.1:p.Glu70= XP_047287824.1:p.Glu70Asp XP_047287824.1:p.Glu70=
AP-1 complex subunit gamma-like 2 isoform X17 XP_047287826.1:p.Glu104= XP_047287826.1:p.Glu104Asp XP_047287826.1:p.Glu104=
AP1G2 transcript variant 3 NM_001282474.2:c.-1047-262= NM_001282474.2:c.-1047-262G>C NM_001282474.2:c.-1047-262G>A
AP1G2 transcript variant 4 NM_001282475.2:c.-58-262= NM_001282475.2:c.-58-262G>C NM_001282475.2:c.-58-262G>A
AP1G2 transcript variant 5 NM_001354673.2:c.-58-262= NM_001354673.2:c.-58-262G>C NM_001354673.2:c.-58-262G>A
AP1G2 transcript variant 6 NM_001354674.2:c.-876-262= NM_001354674.2:c.-876-262G>C NM_001354674.2:c.-876-262G>A
AP1G2 transcript variant 7 NM_001354675.2:c.-988-262= NM_001354675.2:c.-988-262G>C NM_001354675.2:c.-988-262G>A
AP1G2 transcript variant 8 NM_001354677.2:c.-926-262= NM_001354677.2:c.-926-262G>C NM_001354677.2:c.-926-262G>A
AP1G2 transcript variant X9 XM_005268174.1:c.-58-262= XM_005268174.1:c.-58-262G>C XM_005268174.1:c.-58-262G>A
AP1G2 transcript variant X10 XM_005268175.1:c.-58-262= XM_005268175.1:c.-58-262G>C XM_005268175.1:c.-58-262G>A
AP1G2 transcript variant X12 XM_005268177.1:c.-58-262= XM_005268177.1:c.-58-262G>C XM_005268177.1:c.-58-262G>A
AP1G2 transcript variant X13 XM_005268178.1:c.-58-262= XM_005268178.1:c.-58-262G>C XM_005268178.1:c.-58-262G>A
AP1G2 transcript variant X14 XM_005268179.1:c.-58-262= XM_005268179.1:c.-58-262G>C XM_005268179.1:c.-58-262G>A
AP1G2 transcript variant X18 XM_005268183.1:c.-1047-262= XM_005268183.1:c.-1047-262G>C XM_005268183.1:c.-1047-262G>A
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#.

6 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740614638 Nov 08, 2017 (151)
2 KOEX ss3029691201 Nov 08, 2017 (151)
3 TOPMED ss4963596775 Apr 26, 2021 (155)
4 TOPMED ss4963596776 Apr 26, 2021 (155)
5 TOMMO_GENOMICS ss5212318884 Apr 26, 2021 (155)
6 TOMMO_GENOMICS ss5764859990 Oct 16, 2022 (156)
7 gnomAD - Exomes NC_000014.8 - 24035890 Jul 13, 2019 (153)
8 8.3KJPN NC_000014.8 - 24035890 Apr 26, 2021 (155)
9 14KJPN NC_000014.9 - 23566681 Oct 16, 2022 (156)
10 TopMed

Submission ignored due to conflicting rows:
Row 179142434 (NC_000014.9:23566680:C:G 1/264690)
Row 179142435 (NC_000014.9:23566680:C:T 1/264690)

- Apr 26, 2021 (155)
11 TopMed

Submission ignored due to conflicting rows:
Row 179142434 (NC_000014.9:23566680:C:G 1/264690)
Row 179142435 (NC_000014.9:23566680:C:T 1/264690)

- Apr 26, 2021 (155)
12 ALFA NC_000014.9 - 23566681 Apr 26, 2021 (155)
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
70288191, ss3029691201, ss5212318884 NC_000014.8:24035889:C:G NC_000014.9:23566680:C:G (self)
98697094, 4953383955, ss4963596775, ss5764859990 NC_000014.9:23566680:C:G NC_000014.9:23566680:C:G (self)
9863869, ss2740614638 NC_000014.8:24035889:C:T NC_000014.9:23566680:C:T (self)
4953383955, ss4963596776 NC_000014.9:23566680:C:T NC_000014.9:23566680: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 rs1488618130

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.post820+afb47a3d