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.
rs1474339628
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr14:39348786-39348787 (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
- delC
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delC=0.000011 (3/264690, TOPMED)delC=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- MIA2 : Frameshift 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 | CC=1.00000 | C=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | CC=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | CC=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | CC=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | CC=1.0000 | C=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | CC=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | CC=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | CC=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | CC=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | CC=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | CC=1.00 | C=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | CC=1.000 | C=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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 | CC=0.999989 | delC=0.000011 |
| Allele Frequency Aggregator | Total | Global | 14050 | CC=1.00000 | delC=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | CC=1.0000 | delC=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | CC=1.0000 | delC=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | CC=1.000 | delC=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | CC=1.000 | delC=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | CC=1.000 | delC=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | CC=1.000 | delC=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | CC=1.00 | delC=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.39348787del |
| GRCh37.p13 chr 14 | NC_000014.8:g.39817991del |
| MIA2 RefSeqGene | NG_030349.3:g.119867del |
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.1971del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 4 | NP_976231.1:p.Thr658fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 5 | NM_001247988.1:c.1842del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 5 | NP_001234917.1:p.Thr615fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 15 | NM_001354142.1:c.1689del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 11 | NP_001341071.1:p.Thr564fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 11 | NM_001354138.1:c.1971del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 4 | NP_001341067.1:p.Thr658fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 16 | NM_001354143.1:c.1689del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 11 | NP_001341072.1:p.Thr564fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 20 | NM_001354147.1:c.1893del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 14 | NP_001341076.1:p.Thr632fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 21 | NM_001354148.1:c.1971del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 15 | NP_001341077.1:p.Thr658fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 22 | NM_001354149.1:c.1764del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 16 | NP_001341078.1:p.Thr589fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 25 | NM_001354152.2:c.1956del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 19 | NP_001341081.1:p.Thr653fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 7 | NM_001247990.2:c.1833del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 7 | NP_001234919.1:p.Thr612fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 26 | NM_001354153.2:c.1851del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 20 | NP_001341082.1:p.Thr618fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 1 | NM_005930.4:c.2058del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 1 | NP_005921.2:p.Thr687fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 13 | NM_001354140.2:c.1818del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 10 | NP_001341069.1:p.Thr607fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 30 | NM_001354157.2:c.1980del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 24 | NP_001341086.1:p.Thr661fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 14 | NM_001354141.2:c.1818del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 10 | NP_001341070.1:p.Thr607fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 28 | NM_001354155.2:c.1929del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 22 | NP_001341084.1:p.Thr644fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 24 | NM_001354151.2:c.2085del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 18 | NP_001341080.1:p.Thr696fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 29 | NM_001354156.2:c.1740del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 23 | NP_001341085.1:p.Thr581fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 2 | NM_203354.3:c.2022del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 2 | NP_976229.1:p.Thr675fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 18 | NM_001354145.2:c.1689del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 12 | NP_001341074.1:p.Thr564fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 27 | NM_001354154.2:c.2058del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 21 | NP_001341083.1:p.Thr687fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 23 | NM_001354150.2:c.2040del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 17 | NP_001341079.1:p.Thr681fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 17 | NM_001354144.2:c.1689del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 11 | NP_001341073.1:p.Thr564fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 19 | NM_001354146.2:c.1893del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 13 | NP_001341075.1:p.Thr632fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 3 | NM_203355.3:c.1929del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 3 | NP_976230.1:p.Thr644fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 10 | NM_001354137.2:c.1971del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 4 | NP_001341066.1:p.Thr658fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 12 | NM_001354139.2:c.1842del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 5 | NP_001341068.1:p.Thr615fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 6 | NM_001247989.2:c.2073del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 6 | NP_001234918.1:p.Thr692fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 8 | NM_001329214.4:c.3882del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform 8 precursor | NP_001316143.1:p.Thr1295fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant 31 | NR_148721.1:n.2132del | N/A | Non Coding Transcript Variant |
| MIA2 transcript variant 32 | NR_148722.2:n.2169del | N/A | Non Coding Transcript Variant |
| MIA2 transcript variant 33 | NR_148723.2:n.2059del | N/A | Non Coding Transcript Variant |
| MIA2 transcript variant X8 | XM_024449597.2:c. | N/A | Genic Downstream Transcript Variant |
| MIA2 transcript variant X9 | XM_047431401.1:c. | N/A | Genic Downstream Transcript Variant |
| MIA2 transcript variant X10 | XM_047431402.1:c. | N/A | Genic Downstream Transcript Variant |
| MIA2 transcript variant X30 | XM_047431412.1:c. | N/A | Genic Downstream Transcript Variant |
| MIA2 transcript variant X1 | XM_024449592.2:c.3924del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X1 | XP_024305360.1:p.Thr1309fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X2 | XM_024449593.2:c.3909del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X2 | XP_024305361.1:p.Thr1304fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X3 | XM_024449594.2:c.3897del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X3 | XP_024305362.1:p.Thr1300fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X4 | XM_024449595.2:c.3795del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X4 | XP_024305363.1:p.Thr1266fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X5 | XM_047431398.1:c.3768del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X5 | XP_047287354.1:p.Thr1257fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X6 | XM_024449596.2:c.3753del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X6 | XP_024305364.1:p.Thr1252fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X7 | XM_047431399.1:c.3600del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X7 | XP_047287355.1:p.Thr1201fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X11 | XM_017021314.2:c.2100del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X11 | XP_016876803.1:p.Thr701fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X12 | XM_017021315.3:c.2082del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X12 | XP_016876804.1:p.Thr695fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X13 | XM_017021316.2:c.2064del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X13 | XP_016876805.1:p.Thr689fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X14 | XM_011536778.3:c.2049del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X14 | XP_011535080.1:p.Thr684fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X15 | XM_047431403.1:c.2037del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X15 | XP_047287359.1:p.Thr680fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X16 | XM_017021317.3:c.2013del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876806.1:p.Thr672fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X17 | XM_017021330.2:c.2013del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876819.1:p.Thr672fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X18 | XM_017021318.2:c.2013del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876807.1:p.Thr672fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X19 | XM_017021319.2:c.2013del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876808.1:p.Thr672fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X20 | XM_047431405.1:c.1998del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X17 | XP_047287361.1:p.Thr667fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X21 | XM_047431406.1:c.1986del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X18 | XP_047287362.1:p.Thr663fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X22 | XM_047431407.1:c.1944del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X19 | XP_047287363.1:p.Thr649fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X23 | XM_047431408.1:c.1911del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X20 | XP_047287364.1:p.Thr638fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X24 | XM_047431409.1:c.1908del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X21 | XP_047287365.1:p.Thr637fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X25 | XM_017021323.2:c.1860del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X22 | XP_016876812.1:p.Thr621fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X26 | XM_017021324.3:c.1860del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X22 | XP_016876813.1:p.Thr621fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X27 | XM_024449598.2:c.1860del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X22 | XP_024305366.1:p.Thr621fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X28 | XM_047431410.1:c.1860del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X22 | XP_047287366.1:p.Thr621fs | A (Ala) > A (Ala) | Frameshift Variant |
| MIA2 transcript variant X29 | XM_047431411.1:c.1842del | A [GCC] > A [GC] | Coding Sequence Variant |
| melanoma inhibitory activity protein 2 isoform X23 | XP_047287367.1:p.Thr615fs | A (Ala) > A (Ala) | Frameshift 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 | CC= | delC |
|---|---|---|
| GRCh38.p14 chr 14 | NC_000014.9:g.39348786_39348787= | NC_000014.9:g.39348787del |
| GRCh37.p13 chr 14 | NC_000014.8:g.39817990_39817991= | NC_000014.8:g.39817991del |
| MIA2 RefSeqGene | NG_030349.3:g.119866_119867= | NG_030349.3:g.119867del |
| MIA2 transcript variant 8 | NM_001329214.4:c.3881_3882= | NM_001329214.4:c.3882del |
| MIA2 transcript variant 8 | NM_001329214.3:c.3881_3882= | NM_001329214.3:c.3882del |
| MIA2 transcript variant 8 | NM_001329214.2:c.3881_3882= | NM_001329214.2:c.3882del |
| MIA2 transcript variant 8 | NM_001329214.1:c.3881_3882= | NM_001329214.1:c.3882del |
| MIA2 transcript variant 1 | NM_005930.4:c.2057_2058= | NM_005930.4:c.2058del |
| MIA2 transcript variant 1 | NM_005930.3:c.2057_2058= | NM_005930.3:c.2058del |
| MIA2 transcript variant 2 | NM_203354.3:c.2021_2022= | NM_203354.3:c.2022del |
| MIA2 transcript variant 2 | NM_203354.2:c.2021_2022= | NM_203354.2:c.2022del |
| MIA2 transcript variant 3 | NM_203355.3:c.1928_1929= | NM_203355.3:c.1929del |
| MIA2 transcript variant 3 | NM_203355.2:c.1928_1929= | NM_203355.2:c.1929del |
| MIA2 transcript variant 25 | NM_001354152.3:c.1955_1956= | NM_001354152.3:c.1956del |
| MIA2 transcript variant 25 | NM_001354152.2:c.1955_1956= | NM_001354152.2:c.1956del |
| MIA2 transcript variant 25 | NM_001354152.1:c.1955_1956= | NM_001354152.1:c.1956del |
| MIA2 transcript variant 27 | NM_001354154.2:c.2057_2058= | NM_001354154.2:c.2058del |
| MIA2 transcript variant 27 | NM_001354154.1:c.2057_2058= | NM_001354154.1:c.2058del |
| MIA2 transcript variant 28 | NM_001354155.2:c.1928_1929= | NM_001354155.2:c.1929del |
| MIA2 transcript variant 28 | NM_001354155.1:c.1928_1929= | NM_001354155.1:c.1929del |
| MIA2 transcript variant 18 | NM_001354145.2:c.1688_1689= | NM_001354145.2:c.1689del |
| MIA2 transcript variant 18 | NM_001354145.1:c.1688_1689= | NM_001354145.1:c.1689del |
| MIA2 transcript variant 32 | NR_148722.2:n.2168_2169= | NR_148722.2:n.2169del |
| MIA2 transcript variant 32 | NR_148722.1:n.2429_2430= | NR_148722.1:n.2430del |
| MIA2 transcript variant 24 | NM_001354151.2:c.2084_2085= | NM_001354151.2:c.2085del |
| MIA2 transcript variant 24 | NM_001354151.1:c.2084_2085= | NM_001354151.1:c.2085del |
| MIA2 transcript variant 6 | NM_001247989.2:c.2072_2073= | NM_001247989.2:c.2073del |
| MIA2 transcript variant 6 | NM_001247989.1:c.2072_2073= | NM_001247989.1:c.2073del |
| MIA2 transcript variant 10 | NM_001354137.2:c.1970_1971= | NM_001354137.2:c.1971del |
| MIA2 transcript variant 10 | NM_001354137.1:c.1970_1971= | NM_001354137.1:c.1971del |
| MIA2 transcript variant 13 | NM_001354140.2:c.1817_1818= | NM_001354140.2:c.1818del |
| MIA2 transcript variant 13 | NM_001354140.1:c.1817_1818= | NM_001354140.1:c.1818del |
| MIA2 transcript variant 33 | NR_148723.2:n.2058_2059= | NR_148723.2:n.2059del |
| MIA2 transcript variant 33 | NR_148723.1:n.2319_2320= | NR_148723.1:n.2320del |
| MIA2 transcript variant 23 | NM_001354150.2:c.2039_2040= | NM_001354150.2:c.2040del |
| MIA2 transcript variant 23 | NM_001354150.1:c.2039_2040= | NM_001354150.1:c.2040del |
| MIA2 transcript variant 30 | NM_001354157.2:c.1979_1980= | NM_001354157.2:c.1980del |
| MIA2 transcript variant 30 | NM_001354157.1:c.1979_1980= | NM_001354157.1:c.1980del |
| MIA2 transcript variant 7 | NM_001247990.2:c.1832_1833= | NM_001247990.2:c.1833del |
| MIA2 transcript variant 7 | NM_001247990.1:c.1832_1833= | NM_001247990.1:c.1833del |
| MIA2 transcript variant 14 | NM_001354141.2:c.1817_1818= | NM_001354141.2:c.1818del |
| MIA2 transcript variant 14 | NM_001354141.1:c.1817_1818= | NM_001354141.1:c.1818del |
| MIA2 transcript variant 4 | NM_203356.2:c.1970_1971= | NM_203356.2:c.1971del |
| MIA2 transcript variant 19 | NM_001354146.2:c.1892_1893= | NM_001354146.2:c.1893del |
| MIA2 transcript variant 19 | NM_001354146.1:c.1892_1893= | NM_001354146.1:c.1893del |
| MIA2 transcript variant 12 | NM_001354139.2:c.1841_1842= | NM_001354139.2:c.1842del |
| MIA2 transcript variant 12 | NM_001354139.1:c.1841_1842= | NM_001354139.1:c.1842del |
| MIA2 transcript variant 29 | NM_001354156.2:c.1739_1740= | NM_001354156.2:c.1740del |
| MIA2 transcript variant 29 | NM_001354156.1:c.1739_1740= | NM_001354156.1:c.1740del |
| MIA2 transcript variant 26 | NM_001354153.2:c.1850_1851= | NM_001354153.2:c.1851del |
| MIA2 transcript variant 26 | NM_001354153.1:c.1850_1851= | NM_001354153.1:c.1851del |
| MIA2 transcript variant 17 | NM_001354144.2:c.1688_1689= | NM_001354144.2:c.1689del |
| MIA2 transcript variant 17 | NM_001354144.1:c.1688_1689= | NM_001354144.1:c.1689del |
| MIA2 transcript variant 21 | NM_001354148.1:c.1970_1971= | NM_001354148.1:c.1971del |
| MIA2 transcript variant 20 | NM_001354147.1:c.1892_1893= | NM_001354147.1:c.1893del |
| MIA2 transcript variant 31 | NR_148721.1:n.2131_2132= | NR_148721.1:n.2132del |
| MIA2 transcript variant 5 | NM_001247988.1:c.1841_1842= | NM_001247988.1:c.1842del |
| MIA2 transcript variant 11 | NM_001354138.1:c.1970_1971= | NM_001354138.1:c.1971del |
| MIA2 transcript variant 22 | NM_001354149.1:c.1763_1764= | NM_001354149.1:c.1764del |
| MIA2 transcript variant 15 | NM_001354142.1:c.1688_1689= | NM_001354142.1:c.1689del |
| MIA2 transcript variant 16 | NM_001354143.1:c.1688_1689= | NM_001354143.1:c.1689del |
| MIA2 transcript variant X16 | XM_017021317.3:c.2012_2013= | XM_017021317.3:c.2013del |
| MIA2 transcript variant X13 | XM_017021317.2:c.2012_2013= | XM_017021317.2:c.2013del |
| CTAGE5 transcript variant X7 | XM_017021317.1:c.2012_2013= | XM_017021317.1:c.2013del |
| MIA2 transcript variant X14 | XM_011536778.3:c.2048_2049= | XM_011536778.3:c.2049del |
| MIA2 transcript variant X12 | XM_011536778.2:c.2048_2049= | XM_011536778.2:c.2049del |
| CTAGE5 transcript variant X3 | XM_011536778.1:c.2048_2049= | XM_011536778.1:c.2049del |
| MIA2 transcript variant X12 | XM_017021315.3:c.2081_2082= | XM_017021315.3:c.2082del |
| MIA2 transcript variant X10 | XM_017021315.2:c.2081_2082= | XM_017021315.2:c.2082del |
| CTAGE5 transcript variant X3 | XM_017021315.1:c.2081_2082= | XM_017021315.1:c.2082del |
| MIA2 transcript variant X26 | XM_017021324.3:c.1859_1860= | XM_017021324.3:c.1860del |
| MIA2 transcript variant X17 | XM_017021324.2:c.1859_1860= | XM_017021324.2:c.1860del |
| CTAGE5 transcript variant X15 | XM_017021324.1:c.1859_1860= | XM_017021324.1:c.1860del |
| MIA2 transcript variant X1 | XM_024449592.2:c.3923_3924= | XM_024449592.2:c.3924del |
| MIA2 transcript variant X1 | XM_024449592.1:c.3923_3924= | XM_024449592.1:c.3924del |
| MIA2 transcript variant X2 | XM_024449593.2:c.3908_3909= | XM_024449593.2:c.3909del |
| MIA2 transcript variant X2 | XM_024449593.1:c.3908_3909= | XM_024449593.1:c.3909del |
| MIA2 transcript variant X3 | XM_024449594.2:c.3896_3897= | XM_024449594.2:c.3897del |
| MIA2 transcript variant X3 | XM_024449594.1:c.3896_3897= | XM_024449594.1:c.3897del |
| MIA2 transcript variant X4 | XM_024449595.2:c.3794_3795= | XM_024449595.2:c.3795del |
| MIA2 transcript variant X4 | XM_024449595.1:c.3794_3795= | XM_024449595.1:c.3795del |
| MIA2 transcript variant X6 | XM_024449596.2:c.3752_3753= | XM_024449596.2:c.3753del |
| MIA2 transcript variant X5 | XM_024449596.1:c.3752_3753= | XM_024449596.1:c.3753del |
| MIA2 transcript variant X11 | XM_017021314.2:c.2099_2100= | XM_017021314.2:c.2100del |
| MIA2 transcript variant X9 | XM_017021314.1:c.2099_2100= | XM_017021314.1:c.2100del |
| MIA2 transcript variant X13 | XM_017021316.2:c.2063_2064= | XM_017021316.2:c.2064del |
| MIA2 transcript variant X11 | XM_017021316.1:c.2063_2064= | XM_017021316.1:c.2064del |
| MIA2 transcript variant X17 | XM_017021330.2:c.2012_2013= | XM_017021330.2:c.2013del |
| MIA2 transcript variant X21 | XM_017021330.1:c.2012_2013= | XM_017021330.1:c.2013del |
| MIA2 transcript variant X27 | XM_024449598.2:c.1859_1860= | XM_024449598.2:c.1860del |
| MIA2 transcript variant X18 | XM_024449598.1:c.1859_1860= | XM_024449598.1:c.1860del |
| MIA2 transcript variant X18 | XM_017021318.2:c.2012_2013= | XM_017021318.2:c.2013del |
| MIA2 transcript variant X14 | XM_017021318.1:c.2012_2013= | XM_017021318.1:c.2013del |
| MIA2 transcript variant X19 | XM_017021319.2:c.2012_2013= | XM_017021319.2:c.2013del |
| MIA2 transcript variant X15 | XM_017021319.1:c.2012_2013= | XM_017021319.1:c.2013del |
| MIA2 transcript variant X25 | XM_017021323.2:c.1859_1860= | XM_017021323.2:c.1860del |
| MIA2 transcript variant X16 | XM_017021323.1:c.1859_1860= | XM_017021323.1:c.1860del |
| MIA2 transcript variant X7 | XM_047431399.1:c.3599_3600= | XM_047431399.1:c.3600del |
| MIA2 transcript variant X5 | XM_047431398.1:c.3767_3768= | XM_047431398.1:c.3768del |
| CTAGE5 transcript variant 5 | NM_203357.1:c.1832_1833= | NM_203357.1:c.1833del |
| MIA2 transcript variant X15 | XM_047431403.1:c.2036_2037= | XM_047431403.1:c.2037del |
| MIA2 transcript variant X20 | XM_047431405.1:c.1997_1998= | XM_047431405.1:c.1998del |
| MIA2 transcript variant X21 | XM_047431406.1:c.1985_1986= | XM_047431406.1:c.1986del |
| MIA2 transcript variant X22 | XM_047431407.1:c.1943_1944= | XM_047431407.1:c.1944del |
| MIA2 transcript variant X24 | XM_047431409.1:c.1907_1908= | XM_047431409.1:c.1908del |
| MIA2 transcript variant X28 | XM_047431410.1:c.1859_1860= | XM_047431410.1:c.1860del |
| MIA2 transcript variant X29 | XM_047431411.1:c.1841_1842= | XM_047431411.1:c.1842del |
| MIA2 transcript variant X23 | XM_047431408.1:c.1910_1911= | XM_047431408.1:c.1911del |
| melanoma inhibitory activity protein 2 isoform 8 precursor | NP_001316143.1:p.Ala1294= | NP_001316143.1:p.Thr1295fs |
| melanoma inhibitory activity protein 2 isoform 1 | NP_005921.2:p.Ala686= | NP_005921.2:p.Thr687fs |
| melanoma inhibitory activity protein 2 isoform 2 | NP_976229.1:p.Ala674= | NP_976229.1:p.Thr675fs |
| melanoma inhibitory activity protein 2 isoform 3 | NP_976230.1:p.Ala643= | NP_976230.1:p.Thr644fs |
| melanoma inhibitory activity protein 2 isoform 19 | NP_001341081.1:p.Ala652= | NP_001341081.1:p.Thr653fs |
| melanoma inhibitory activity protein 2 isoform 21 | NP_001341083.1:p.Ala686= | NP_001341083.1:p.Thr687fs |
| melanoma inhibitory activity protein 2 isoform 22 | NP_001341084.1:p.Ala643= | NP_001341084.1:p.Thr644fs |
| melanoma inhibitory activity protein 2 isoform 12 | NP_001341074.1:p.Ala563= | NP_001341074.1:p.Thr564fs |
| melanoma inhibitory activity protein 2 isoform 18 | NP_001341080.1:p.Ala695= | NP_001341080.1:p.Thr696fs |
| melanoma inhibitory activity protein 2 isoform 6 | NP_001234918.1:p.Ala691= | NP_001234918.1:p.Thr692fs |
| melanoma inhibitory activity protein 2 isoform 4 | NP_001341066.1:p.Ala657= | NP_001341066.1:p.Thr658fs |
| melanoma inhibitory activity protein 2 isoform 10 | NP_001341069.1:p.Ala606= | NP_001341069.1:p.Thr607fs |
| melanoma inhibitory activity protein 2 isoform 17 | NP_001341079.1:p.Ala680= | NP_001341079.1:p.Thr681fs |
| melanoma inhibitory activity protein 2 isoform 24 | NP_001341086.1:p.Ala660= | NP_001341086.1:p.Thr661fs |
| melanoma inhibitory activity protein 2 isoform 7 | NP_001234919.1:p.Ala611= | NP_001234919.1:p.Thr612fs |
| melanoma inhibitory activity protein 2 isoform 10 | NP_001341070.1:p.Ala606= | NP_001341070.1:p.Thr607fs |
| melanoma inhibitory activity protein 2 isoform 4 | NP_976231.1:p.Ala657= | NP_976231.1:p.Thr658fs |
| melanoma inhibitory activity protein 2 isoform 13 | NP_001341075.1:p.Ala631= | NP_001341075.1:p.Thr632fs |
| melanoma inhibitory activity protein 2 isoform 5 | NP_001341068.1:p.Ala614= | NP_001341068.1:p.Thr615fs |
| melanoma inhibitory activity protein 2 isoform 23 | NP_001341085.1:p.Ala580= | NP_001341085.1:p.Thr581fs |
| melanoma inhibitory activity protein 2 isoform 20 | NP_001341082.1:p.Ala617= | NP_001341082.1:p.Thr618fs |
| melanoma inhibitory activity protein 2 isoform 11 | NP_001341073.1:p.Ala563= | NP_001341073.1:p.Thr564fs |
| melanoma inhibitory activity protein 2 isoform 15 | NP_001341077.1:p.Ala657= | NP_001341077.1:p.Thr658fs |
| melanoma inhibitory activity protein 2 isoform 14 | NP_001341076.1:p.Ala631= | NP_001341076.1:p.Thr632fs |
| melanoma inhibitory activity protein 2 isoform 5 | NP_001234917.1:p.Ala614= | NP_001234917.1:p.Thr615fs |
| melanoma inhibitory activity protein 2 isoform 4 | NP_001341067.1:p.Ala657= | NP_001341067.1:p.Thr658fs |
| melanoma inhibitory activity protein 2 isoform 16 | NP_001341078.1:p.Ala588= | NP_001341078.1:p.Thr589fs |
| melanoma inhibitory activity protein 2 isoform 11 | NP_001341071.1:p.Ala563= | NP_001341071.1:p.Thr564fs |
| melanoma inhibitory activity protein 2 isoform 11 | NP_001341072.1:p.Ala563= | NP_001341072.1:p.Thr564fs |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876806.1:p.Ala671= | XP_016876806.1:p.Thr672fs |
| melanoma inhibitory activity protein 2 isoform X14 | XP_011535080.1:p.Ala683= | XP_011535080.1:p.Thr684fs |
| melanoma inhibitory activity protein 2 isoform X12 | XP_016876804.1:p.Ala694= | XP_016876804.1:p.Thr695fs |
| melanoma inhibitory activity protein 2 isoform X22 | XP_016876813.1:p.Ala620= | XP_016876813.1:p.Thr621fs |
| melanoma inhibitory activity protein 2 isoform X1 | XP_024305360.1:p.Ala1308= | XP_024305360.1:p.Thr1309fs |
| melanoma inhibitory activity protein 2 isoform X2 | XP_024305361.1:p.Ala1303= | XP_024305361.1:p.Thr1304fs |
| melanoma inhibitory activity protein 2 isoform X3 | XP_024305362.1:p.Ala1299= | XP_024305362.1:p.Thr1300fs |
| melanoma inhibitory activity protein 2 isoform X4 | XP_024305363.1:p.Ala1265= | XP_024305363.1:p.Thr1266fs |
| melanoma inhibitory activity protein 2 isoform X6 | XP_024305364.1:p.Ala1251= | XP_024305364.1:p.Thr1252fs |
| melanoma inhibitory activity protein 2 isoform X11 | XP_016876803.1:p.Ala700= | XP_016876803.1:p.Thr701fs |
| melanoma inhibitory activity protein 2 isoform X13 | XP_016876805.1:p.Ala688= | XP_016876805.1:p.Thr689fs |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876819.1:p.Ala671= | XP_016876819.1:p.Thr672fs |
| melanoma inhibitory activity protein 2 isoform X22 | XP_024305366.1:p.Ala620= | XP_024305366.1:p.Thr621fs |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876807.1:p.Ala671= | XP_016876807.1:p.Thr672fs |
| melanoma inhibitory activity protein 2 isoform X16 | XP_016876808.1:p.Ala671= | XP_016876808.1:p.Thr672fs |
| melanoma inhibitory activity protein 2 isoform X22 | XP_016876812.1:p.Ala620= | XP_016876812.1:p.Thr621fs |
| melanoma inhibitory activity protein 2 isoform X7 | XP_047287355.1:p.Ala1200= | XP_047287355.1:p.Thr1201fs |
| melanoma inhibitory activity protein 2 isoform X5 | XP_047287354.1:p.Ala1256= | XP_047287354.1:p.Thr1257fs |
| melanoma inhibitory activity protein 2 isoform X15 | XP_047287359.1:p.Ala679= | XP_047287359.1:p.Thr680fs |
| melanoma inhibitory activity protein 2 isoform X17 | XP_047287361.1:p.Ala666= | XP_047287361.1:p.Thr667fs |
| melanoma inhibitory activity protein 2 isoform X18 | XP_047287362.1:p.Ala662= | XP_047287362.1:p.Thr663fs |
| melanoma inhibitory activity protein 2 isoform X19 | XP_047287363.1:p.Ala648= | XP_047287363.1:p.Thr649fs |
| melanoma inhibitory activity protein 2 isoform X21 | XP_047287365.1:p.Ala636= | XP_047287365.1:p.Thr637fs |
| melanoma inhibitory activity protein 2 isoform X22 | XP_047287366.1:p.Ala620= | XP_047287366.1:p.Thr621fs |
| melanoma inhibitory activity protein 2 isoform X23 | XP_047287367.1:p.Ala614= | XP_047287367.1:p.Thr615fs |
| melanoma inhibitory activity protein 2 isoform X20 | XP_047287364.1:p.Ala637= | XP_047287364.1:p.Thr638fs |
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#.
1 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TOPMED | ss4967455974 | Apr 27, 2021 (155) |
| 2 | TopMed | NC_000014.9 - 39348786 | Apr 27, 2021 (155) |
| 3 | ALFA | NC_000014.9 - 39348786 | Apr 27, 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).
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 rs1474339628
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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
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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.
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.