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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.

rs1490214323

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:39299886 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000008 (2/264690, TOPMED)
A=0.000004 (1/243846, GnomAD_exome)
A=0.000007 (1/140190, GnomAD) (+ 1 more)
A=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MIA2 : Stop Gained
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 10680 G=1.00000 A=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 A=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
TopMed Global Study-wide 264690 G=0.999992 A=0.000008
gnomAD - Exomes Global Study-wide 243846 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 132712 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 46642 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 32892 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 15692 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9928 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5980 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140190 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75928 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42012 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13648 G=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=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.39299886G>A
GRCh37.p13 chr 14 NC_000014.8:g.39769090G>A
MIA2 RefSeqGene NG_030349.3:g.70966G>A
Gene: MIA2, MIA SH3 domain ER export factor 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MIA2 transcript variant 9 NM_054024.4:c. N/A Genic Downstream Transcript Variant
MIA2 transcript variant 4 NM_203356.2:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 4 NP_976231.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 5 NM_001247988.1:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 5 NP_001234917.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 15 NM_001354142.1:c.455G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 11 NP_001341071.1:p.Trp152Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 11 NM_001354138.1:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 4 NP_001341067.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 16 NM_001354143.1:c.455G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 11 NP_001341072.1:p.Trp152Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 20 NM_001354147.1:c.530G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 14 NP_001341076.1:p.Trp177Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 21 NM_001354148.1:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 15 NP_001341077.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 22 NM_001354149.1:c.530G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 16 NP_001341078.1:p.Trp177Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 25 NM_001354152.2:c.722G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 19 NP_001341081.1:p.Trp241Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 7 NM_001247990.2:c.470G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 7 NP_001234919.1:p.Trp157Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 26 NM_001354153.2:c.617G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 20 NP_001341082.1:p.Trp206Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 1 NM_005930.4:c.695G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 1 NP_005921.2:p.Trp232Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 13 NM_001354140.2:c.455G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 10 NP_001341069.1:p.Trp152Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 30 NM_001354157.2:c.617G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 24 NP_001341086.1:p.Trp206Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 14 NM_001354141.2:c.455G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 10 NP_001341070.1:p.Trp152Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 28 NM_001354155.2:c.695G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 22 NP_001341084.1:p.Trp232Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 24 NM_001354151.2:c.722G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 18 NP_001341080.1:p.Trp241Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 29 NM_001354156.2:c.377G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 23 NP_001341085.1:p.Trp126Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 2 NM_203354.3:c.659G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 2 NP_976229.1:p.Trp220Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 18 NM_001354145.2:c.455G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 12 NP_001341074.1:p.Trp152Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 27 NM_001354154.2:c.695G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 21 NP_001341083.1:p.Trp232Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 23 NM_001354150.2:c.677G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 17 NP_001341079.1:p.Trp226Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 17 NM_001354144.2:c.455G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 11 NP_001341073.1:p.Trp152Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 19 NM_001354146.2:c.659G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 13 NP_001341075.1:p.Trp220Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 3 NM_203355.3:c.695G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 3 NP_976230.1:p.Trp232Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 10 NM_001354137.2:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 4 NP_001341066.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 12 NM_001354139.2:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 5 NP_001341068.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 6 NM_001247989.2:c.710G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 6 NP_001234918.1:p.Trp237Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 8 NM_001329214.4:c.2519G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 8 precursor NP_001316143.1:p.Trp840Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant 31 NR_148721.1:n.862G>A N/A Non Coding Transcript Variant
MIA2 transcript variant 32 NR_148722.2:n.770G>A N/A Non Coding Transcript Variant
MIA2 transcript variant 33 NR_148723.2:n.660G>A N/A Non Coding Transcript Variant
MIA2 transcript variant X1 XM_024449592.2:c.2561G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X1 XP_024305360.1:p.Trp854Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X2 XM_024449593.2:c.2546G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X2 XP_024305361.1:p.Trp849Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X3 XM_024449594.2:c.2534G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X3 XP_024305362.1:p.Trp845Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X4 XM_024449595.2:c.2561G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X4 XP_024305363.1:p.Trp854Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X5 XM_047431398.1:c.2534G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X5 XP_047287354.1:p.Trp845Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X6 XM_024449596.2:c.2519G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X6 XP_024305364.1:p.Trp840Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X7 XM_047431399.1:c.2237G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X7 XP_047287355.1:p.Trp746Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X8 XM_024449597.2:c.2561G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X8 XP_024305365.1:p.Trp854Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X9 XM_047431401.1:c.2534G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X9 XP_047287357.1:p.Trp845Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X10 XM_047431402.1:c.2561G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X10 XP_047287358.1:p.Trp854Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X11 XM_017021314.2:c.737G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X11 XP_016876803.1:p.Trp246Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X12 XM_017021315.3:c.719G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X12 XP_016876804.1:p.Trp240Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X13 XM_017021316.2:c.701G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X13 XP_016876805.1:p.Trp234Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X14 XM_011536778.3:c.686G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X14 XP_011535080.1:p.Trp229Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X15 XM_047431403.1:c.674G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X15 XP_047287359.1:p.Trp225Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X16 XM_017021317.3:c.650G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876806.1:p.Trp217Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X17 XM_017021330.2:c.650G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876819.1:p.Trp217Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X18 XM_017021318.2:c.650G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876807.1:p.Trp217Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X19 XM_017021319.2:c.650G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876808.1:p.Trp217Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X20 XM_047431405.1:c.635G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X17 XP_047287361.1:p.Trp212Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X21 XM_047431406.1:c.623G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X18 XP_047287362.1:p.Trp208Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X22 XM_047431407.1:c.710G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X19 XP_047287363.1:p.Trp237Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X23 XM_047431408.1:c.677G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X20 XP_047287364.1:p.Trp226Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X24 XM_047431409.1:c.674G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X21 XP_047287365.1:p.Trp225Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X25 XM_017021323.2:c.497G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_016876812.1:p.Trp166Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X26 XM_017021324.3:c.497G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_016876813.1:p.Trp166Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X27 XM_024449598.2:c.497G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_024305366.1:p.Trp166Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X28 XM_047431410.1:c.497G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_047287366.1:p.Trp166Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X29 XM_047431411.1:c.608G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X23 XP_047287367.1:p.Trp203Ter W (Trp) > * (Ter) Stop Gained
MIA2 transcript variant X30 XM_047431412.1:c.695G>A W [TGG] > * [TAG] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X24 XP_047287368.1:p.Trp232Ter W (Trp) > * (Ter) Stop Gained
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 G= A
GRCh38.p14 chr 14 NC_000014.9:g.39299886= NC_000014.9:g.39299886G>A
GRCh37.p13 chr 14 NC_000014.8:g.39769090= NC_000014.8:g.39769090G>A
MIA2 RefSeqGene NG_030349.3:g.70966= NG_030349.3:g.70966G>A
MIA2 transcript variant 8 NM_001329214.4:c.2519= NM_001329214.4:c.2519G>A
MIA2 transcript variant 8 NM_001329214.3:c.2519= NM_001329214.3:c.2519G>A
MIA2 transcript variant 8 NM_001329214.2:c.2519= NM_001329214.2:c.2519G>A
MIA2 transcript variant 8 NM_001329214.1:c.2519= NM_001329214.1:c.2519G>A
MIA2 transcript variant 1 NM_005930.4:c.695= NM_005930.4:c.695G>A
MIA2 transcript variant 1 NM_005930.3:c.695= NM_005930.3:c.695G>A
MIA2 transcript variant 2 NM_203354.3:c.659= NM_203354.3:c.659G>A
MIA2 transcript variant 2 NM_203354.2:c.659= NM_203354.2:c.659G>A
MIA2 transcript variant 3 NM_203355.3:c.695= NM_203355.3:c.695G>A
MIA2 transcript variant 3 NM_203355.2:c.695= NM_203355.2:c.695G>A
MIA2 transcript variant 25 NM_001354152.3:c.722= NM_001354152.3:c.722G>A
MIA2 transcript variant 25 NM_001354152.2:c.722= NM_001354152.2:c.722G>A
MIA2 transcript variant 25 NM_001354152.1:c.722= NM_001354152.1:c.722G>A
MIA2 transcript variant 27 NM_001354154.2:c.695= NM_001354154.2:c.695G>A
MIA2 transcript variant 27 NM_001354154.1:c.695= NM_001354154.1:c.695G>A
MIA2 transcript variant 28 NM_001354155.2:c.695= NM_001354155.2:c.695G>A
MIA2 transcript variant 28 NM_001354155.1:c.695= NM_001354155.1:c.695G>A
MIA2 transcript variant 18 NM_001354145.2:c.455= NM_001354145.2:c.455G>A
MIA2 transcript variant 18 NM_001354145.1:c.455= NM_001354145.1:c.455G>A
MIA2 transcript variant 32 NR_148722.2:n.770= NR_148722.2:n.770G>A
MIA2 transcript variant 32 NR_148722.1:n.1031= NR_148722.1:n.1031G>A
MIA2 transcript variant 24 NM_001354151.2:c.722= NM_001354151.2:c.722G>A
MIA2 transcript variant 24 NM_001354151.1:c.722= NM_001354151.1:c.722G>A
MIA2 transcript variant 6 NM_001247989.2:c.710= NM_001247989.2:c.710G>A
MIA2 transcript variant 6 NM_001247989.1:c.710= NM_001247989.1:c.710G>A
MIA2 transcript variant 10 NM_001354137.2:c.608= NM_001354137.2:c.608G>A
MIA2 transcript variant 10 NM_001354137.1:c.608= NM_001354137.1:c.608G>A
MIA2 transcript variant 13 NM_001354140.2:c.455= NM_001354140.2:c.455G>A
MIA2 transcript variant 13 NM_001354140.1:c.455= NM_001354140.1:c.455G>A
MIA2 transcript variant 33 NR_148723.2:n.660= NR_148723.2:n.660G>A
MIA2 transcript variant 33 NR_148723.1:n.921= NR_148723.1:n.921G>A
MIA2 transcript variant 23 NM_001354150.2:c.677= NM_001354150.2:c.677G>A
MIA2 transcript variant 23 NM_001354150.1:c.677= NM_001354150.1:c.677G>A
MIA2 transcript variant 30 NM_001354157.2:c.617= NM_001354157.2:c.617G>A
MIA2 transcript variant 30 NM_001354157.1:c.617= NM_001354157.1:c.617G>A
MIA2 transcript variant 7 NM_001247990.2:c.470= NM_001247990.2:c.470G>A
MIA2 transcript variant 7 NM_001247990.1:c.470= NM_001247990.1:c.470G>A
MIA2 transcript variant 14 NM_001354141.2:c.455= NM_001354141.2:c.455G>A
MIA2 transcript variant 14 NM_001354141.1:c.455= NM_001354141.1:c.455G>A
MIA2 transcript variant 4 NM_203356.2:c.608= NM_203356.2:c.608G>A
MIA2 transcript variant 19 NM_001354146.2:c.659= NM_001354146.2:c.659G>A
MIA2 transcript variant 19 NM_001354146.1:c.659= NM_001354146.1:c.659G>A
MIA2 transcript variant 12 NM_001354139.2:c.608= NM_001354139.2:c.608G>A
MIA2 transcript variant 12 NM_001354139.1:c.608= NM_001354139.1:c.608G>A
MIA2 transcript variant 29 NM_001354156.2:c.377= NM_001354156.2:c.377G>A
MIA2 transcript variant 29 NM_001354156.1:c.377= NM_001354156.1:c.377G>A
MIA2 transcript variant 26 NM_001354153.2:c.617= NM_001354153.2:c.617G>A
MIA2 transcript variant 26 NM_001354153.1:c.617= NM_001354153.1:c.617G>A
MIA2 transcript variant 17 NM_001354144.2:c.455= NM_001354144.2:c.455G>A
MIA2 transcript variant 17 NM_001354144.1:c.455= NM_001354144.1:c.455G>A
MIA2 transcript variant 21 NM_001354148.1:c.608= NM_001354148.1:c.608G>A
MIA2 transcript variant 20 NM_001354147.1:c.530= NM_001354147.1:c.530G>A
MIA2 transcript variant 31 NR_148721.1:n.862= NR_148721.1:n.862G>A
MIA2 transcript variant 5 NM_001247988.1:c.608= NM_001247988.1:c.608G>A
MIA2 transcript variant 11 NM_001354138.1:c.608= NM_001354138.1:c.608G>A
MIA2 transcript variant 22 NM_001354149.1:c.530= NM_001354149.1:c.530G>A
MIA2 transcript variant 15 NM_001354142.1:c.455= NM_001354142.1:c.455G>A
MIA2 transcript variant 16 NM_001354143.1:c.455= NM_001354143.1:c.455G>A
MIA2 transcript variant X16 XM_017021317.3:c.650= XM_017021317.3:c.650G>A
MIA2 transcript variant X13 XM_017021317.2:c.650= XM_017021317.2:c.650G>A
CTAGE5 transcript variant X7 XM_017021317.1:c.650= XM_017021317.1:c.650G>A
MIA2 transcript variant X14 XM_011536778.3:c.686= XM_011536778.3:c.686G>A
MIA2 transcript variant X12 XM_011536778.2:c.686= XM_011536778.2:c.686G>A
CTAGE5 transcript variant X3 XM_011536778.1:c.686= XM_011536778.1:c.686G>A
MIA2 transcript variant X12 XM_017021315.3:c.719= XM_017021315.3:c.719G>A
MIA2 transcript variant X10 XM_017021315.2:c.719= XM_017021315.2:c.719G>A
CTAGE5 transcript variant X3 XM_017021315.1:c.719= XM_017021315.1:c.719G>A
MIA2 transcript variant X26 XM_017021324.3:c.497= XM_017021324.3:c.497G>A
MIA2 transcript variant X17 XM_017021324.2:c.497= XM_017021324.2:c.497G>A
CTAGE5 transcript variant X15 XM_017021324.1:c.497= XM_017021324.1:c.497G>A
MIA2 transcript variant X1 XM_024449592.2:c.2561= XM_024449592.2:c.2561G>A
MIA2 transcript variant X1 XM_024449592.1:c.2561= XM_024449592.1:c.2561G>A
MIA2 transcript variant X2 XM_024449593.2:c.2546= XM_024449593.2:c.2546G>A
MIA2 transcript variant X2 XM_024449593.1:c.2546= XM_024449593.1:c.2546G>A
MIA2 transcript variant X3 XM_024449594.2:c.2534= XM_024449594.2:c.2534G>A
MIA2 transcript variant X3 XM_024449594.1:c.2534= XM_024449594.1:c.2534G>A
MIA2 transcript variant X4 XM_024449595.2:c.2561= XM_024449595.2:c.2561G>A
MIA2 transcript variant X4 XM_024449595.1:c.2561= XM_024449595.1:c.2561G>A
MIA2 transcript variant X6 XM_024449596.2:c.2519= XM_024449596.2:c.2519G>A
MIA2 transcript variant X5 XM_024449596.1:c.2519= XM_024449596.1:c.2519G>A
MIA2 transcript variant X8 XM_024449597.2:c.2561= XM_024449597.2:c.2561G>A
MIA2 transcript variant X6 XM_024449597.1:c.2561= XM_024449597.1:c.2561G>A
MIA2 transcript variant X11 XM_017021314.2:c.737= XM_017021314.2:c.737G>A
MIA2 transcript variant X9 XM_017021314.1:c.737= XM_017021314.1:c.737G>A
MIA2 transcript variant X13 XM_017021316.2:c.701= XM_017021316.2:c.701G>A
MIA2 transcript variant X11 XM_017021316.1:c.701= XM_017021316.1:c.701G>A
MIA2 transcript variant X17 XM_017021330.2:c.650= XM_017021330.2:c.650G>A
MIA2 transcript variant X21 XM_017021330.1:c.650= XM_017021330.1:c.650G>A
MIA2 transcript variant X27 XM_024449598.2:c.497= XM_024449598.2:c.497G>A
MIA2 transcript variant X18 XM_024449598.1:c.497= XM_024449598.1:c.497G>A
MIA2 transcript variant X18 XM_017021318.2:c.650= XM_017021318.2:c.650G>A
MIA2 transcript variant X14 XM_017021318.1:c.650= XM_017021318.1:c.650G>A
MIA2 transcript variant X19 XM_017021319.2:c.650= XM_017021319.2:c.650G>A
MIA2 transcript variant X15 XM_017021319.1:c.650= XM_017021319.1:c.650G>A
MIA2 transcript variant X25 XM_017021323.2:c.497= XM_017021323.2:c.497G>A
MIA2 transcript variant X16 XM_017021323.1:c.497= XM_017021323.1:c.497G>A
MIA2 transcript variant X7 XM_047431399.1:c.2237= XM_047431399.1:c.2237G>A
MIA2 transcript variant X5 XM_047431398.1:c.2534= XM_047431398.1:c.2534G>A
MIA2 transcript variant X9 XM_047431401.1:c.2534= XM_047431401.1:c.2534G>A
CTAGE5 transcript variant 5 NM_203357.1:c.470= NM_203357.1:c.470G>A
MIA2 transcript variant X15 XM_047431403.1:c.674= XM_047431403.1:c.674G>A
MIA2 transcript variant X20 XM_047431405.1:c.635= XM_047431405.1:c.635G>A
MIA2 transcript variant X21 XM_047431406.1:c.623= XM_047431406.1:c.623G>A
MIA2 transcript variant X22 XM_047431407.1:c.710= XM_047431407.1:c.710G>A
MIA2 transcript variant X24 XM_047431409.1:c.674= XM_047431409.1:c.674G>A
MIA2 transcript variant X28 XM_047431410.1:c.497= XM_047431410.1:c.497G>A
MIA2 transcript variant X29 XM_047431411.1:c.608= XM_047431411.1:c.608G>A
MIA2 transcript variant X23 XM_047431408.1:c.677= XM_047431408.1:c.677G>A
MIA2 transcript variant X10 XM_047431402.1:c.2561= XM_047431402.1:c.2561G>A
MIA2 transcript variant X30 XM_047431412.1:c.695= XM_047431412.1:c.695G>A
melanoma inhibitory activity protein 2 isoform 8 precursor NP_001316143.1:p.Trp840= NP_001316143.1:p.Trp840Ter
melanoma inhibitory activity protein 2 isoform 1 NP_005921.2:p.Trp232= NP_005921.2:p.Trp232Ter
melanoma inhibitory activity protein 2 isoform 2 NP_976229.1:p.Trp220= NP_976229.1:p.Trp220Ter
melanoma inhibitory activity protein 2 isoform 3 NP_976230.1:p.Trp232= NP_976230.1:p.Trp232Ter
melanoma inhibitory activity protein 2 isoform 19 NP_001341081.1:p.Trp241= NP_001341081.1:p.Trp241Ter
melanoma inhibitory activity protein 2 isoform 21 NP_001341083.1:p.Trp232= NP_001341083.1:p.Trp232Ter
melanoma inhibitory activity protein 2 isoform 22 NP_001341084.1:p.Trp232= NP_001341084.1:p.Trp232Ter
melanoma inhibitory activity protein 2 isoform 12 NP_001341074.1:p.Trp152= NP_001341074.1:p.Trp152Ter
melanoma inhibitory activity protein 2 isoform 18 NP_001341080.1:p.Trp241= NP_001341080.1:p.Trp241Ter
melanoma inhibitory activity protein 2 isoform 6 NP_001234918.1:p.Trp237= NP_001234918.1:p.Trp237Ter
melanoma inhibitory activity protein 2 isoform 4 NP_001341066.1:p.Trp203= NP_001341066.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform 10 NP_001341069.1:p.Trp152= NP_001341069.1:p.Trp152Ter
melanoma inhibitory activity protein 2 isoform 17 NP_001341079.1:p.Trp226= NP_001341079.1:p.Trp226Ter
melanoma inhibitory activity protein 2 isoform 24 NP_001341086.1:p.Trp206= NP_001341086.1:p.Trp206Ter
melanoma inhibitory activity protein 2 isoform 7 NP_001234919.1:p.Trp157= NP_001234919.1:p.Trp157Ter
melanoma inhibitory activity protein 2 isoform 10 NP_001341070.1:p.Trp152= NP_001341070.1:p.Trp152Ter
melanoma inhibitory activity protein 2 isoform 4 NP_976231.1:p.Trp203= NP_976231.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform 13 NP_001341075.1:p.Trp220= NP_001341075.1:p.Trp220Ter
melanoma inhibitory activity protein 2 isoform 5 NP_001341068.1:p.Trp203= NP_001341068.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform 23 NP_001341085.1:p.Trp126= NP_001341085.1:p.Trp126Ter
melanoma inhibitory activity protein 2 isoform 20 NP_001341082.1:p.Trp206= NP_001341082.1:p.Trp206Ter
melanoma inhibitory activity protein 2 isoform 11 NP_001341073.1:p.Trp152= NP_001341073.1:p.Trp152Ter
melanoma inhibitory activity protein 2 isoform 15 NP_001341077.1:p.Trp203= NP_001341077.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform 14 NP_001341076.1:p.Trp177= NP_001341076.1:p.Trp177Ter
melanoma inhibitory activity protein 2 isoform 5 NP_001234917.1:p.Trp203= NP_001234917.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform 4 NP_001341067.1:p.Trp203= NP_001341067.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform 16 NP_001341078.1:p.Trp177= NP_001341078.1:p.Trp177Ter
melanoma inhibitory activity protein 2 isoform 11 NP_001341071.1:p.Trp152= NP_001341071.1:p.Trp152Ter
melanoma inhibitory activity protein 2 isoform 11 NP_001341072.1:p.Trp152= NP_001341072.1:p.Trp152Ter
melanoma inhibitory activity protein 2 isoform X16 XP_016876806.1:p.Trp217= XP_016876806.1:p.Trp217Ter
melanoma inhibitory activity protein 2 isoform X14 XP_011535080.1:p.Trp229= XP_011535080.1:p.Trp229Ter
melanoma inhibitory activity protein 2 isoform X12 XP_016876804.1:p.Trp240= XP_016876804.1:p.Trp240Ter
melanoma inhibitory activity protein 2 isoform X22 XP_016876813.1:p.Trp166= XP_016876813.1:p.Trp166Ter
melanoma inhibitory activity protein 2 isoform X1 XP_024305360.1:p.Trp854= XP_024305360.1:p.Trp854Ter
melanoma inhibitory activity protein 2 isoform X2 XP_024305361.1:p.Trp849= XP_024305361.1:p.Trp849Ter
melanoma inhibitory activity protein 2 isoform X3 XP_024305362.1:p.Trp845= XP_024305362.1:p.Trp845Ter
melanoma inhibitory activity protein 2 isoform X4 XP_024305363.1:p.Trp854= XP_024305363.1:p.Trp854Ter
melanoma inhibitory activity protein 2 isoform X6 XP_024305364.1:p.Trp840= XP_024305364.1:p.Trp840Ter
melanoma inhibitory activity protein 2 isoform X8 XP_024305365.1:p.Trp854= XP_024305365.1:p.Trp854Ter
melanoma inhibitory activity protein 2 isoform X11 XP_016876803.1:p.Trp246= XP_016876803.1:p.Trp246Ter
melanoma inhibitory activity protein 2 isoform X13 XP_016876805.1:p.Trp234= XP_016876805.1:p.Trp234Ter
melanoma inhibitory activity protein 2 isoform X16 XP_016876819.1:p.Trp217= XP_016876819.1:p.Trp217Ter
melanoma inhibitory activity protein 2 isoform X22 XP_024305366.1:p.Trp166= XP_024305366.1:p.Trp166Ter
melanoma inhibitory activity protein 2 isoform X16 XP_016876807.1:p.Trp217= XP_016876807.1:p.Trp217Ter
melanoma inhibitory activity protein 2 isoform X16 XP_016876808.1:p.Trp217= XP_016876808.1:p.Trp217Ter
melanoma inhibitory activity protein 2 isoform X22 XP_016876812.1:p.Trp166= XP_016876812.1:p.Trp166Ter
melanoma inhibitory activity protein 2 isoform X7 XP_047287355.1:p.Trp746= XP_047287355.1:p.Trp746Ter
melanoma inhibitory activity protein 2 isoform X5 XP_047287354.1:p.Trp845= XP_047287354.1:p.Trp845Ter
melanoma inhibitory activity protein 2 isoform X9 XP_047287357.1:p.Trp845= XP_047287357.1:p.Trp845Ter
melanoma inhibitory activity protein 2 isoform X15 XP_047287359.1:p.Trp225= XP_047287359.1:p.Trp225Ter
melanoma inhibitory activity protein 2 isoform X17 XP_047287361.1:p.Trp212= XP_047287361.1:p.Trp212Ter
melanoma inhibitory activity protein 2 isoform X18 XP_047287362.1:p.Trp208= XP_047287362.1:p.Trp208Ter
melanoma inhibitory activity protein 2 isoform X19 XP_047287363.1:p.Trp237= XP_047287363.1:p.Trp237Ter
melanoma inhibitory activity protein 2 isoform X21 XP_047287365.1:p.Trp225= XP_047287365.1:p.Trp225Ter
melanoma inhibitory activity protein 2 isoform X22 XP_047287366.1:p.Trp166= XP_047287366.1:p.Trp166Ter
melanoma inhibitory activity protein 2 isoform X23 XP_047287367.1:p.Trp203= XP_047287367.1:p.Trp203Ter
melanoma inhibitory activity protein 2 isoform X20 XP_047287364.1:p.Trp226= XP_047287364.1:p.Trp226Ter
melanoma inhibitory activity protein 2 isoform X10 XP_047287358.1:p.Trp854= XP_047287358.1:p.Trp854Ter
melanoma inhibitory activity protein 2 isoform X24 XP_047287368.1:p.Trp232= XP_047287368.1:p.Trp232Ter
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740682710 Nov 08, 2017 (151)
2 GNOMAD ss4276452260 Apr 26, 2021 (155)
3 TOPMED ss4967442708 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000014.9 - 39299886 Apr 26, 2021 (155)
5 gnomAD - Exomes NC_000014.8 - 39769090 Jul 13, 2019 (153)
6 TopMed NC_000014.9 - 39299886 Apr 26, 2021 (155)
7 ALFA NC_000014.9 - 39299886 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
9933378, ss2740682710 NC_000014.8:39769089:G:A NC_000014.9:39299885:G:A (self)
448502085, 182988367, 602095510, ss4276452260, ss4967442708 NC_000014.9:39299885:G:A NC_000014.9:39299885:G:A (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 rs1490214323

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