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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1489619222

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:39294033 (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=0.000004 (1/250536, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MIA2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 250536 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 134946 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 48798 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34410 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16202 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10070 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6110 G=1.0000 A=0.0000
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.39294033G>A
GRCh37.p13 chr 14 NC_000014.8:g.39763237G>A
MIA2 RefSeqGene NG_030349.3:g.65113G>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.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 4 NP_976231.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 5 NM_001247988.1:c.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 5 NP_001234917.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 15 NM_001354142.1:c.289G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 11 NP_001341071.1:p.Glu97Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 11 NM_001354138.1:c.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 4 NP_001341067.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 16 NM_001354143.1:c.289G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 11 NP_001341072.1:p.Glu97Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 20 NM_001354147.1:c.364G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 14 NP_001341076.1:p.Glu122Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 21 NM_001354148.1:c.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 15 NP_001341077.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 22 NM_001354149.1:c.364G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 16 NP_001341078.1:p.Glu122Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 25 NM_001354152.2:c.556G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 19 NP_001341081.1:p.Glu186Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 7 NM_001247990.2:c.304G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 7 NP_001234919.1:p.Glu102Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 26 NM_001354153.2:c.451G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 20 NP_001341082.1:p.Glu151Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 1 NM_005930.4:c.529G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 1 NP_005921.2:p.Glu177Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 13 NM_001354140.2:c.289G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 10 NP_001341069.1:p.Glu97Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 30 NM_001354157.2:c.451G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 24 NP_001341086.1:p.Glu151Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 14 NM_001354141.2:c.289G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 10 NP_001341070.1:p.Glu97Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 28 NM_001354155.2:c.529G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 22 NP_001341084.1:p.Glu177Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 24 NM_001354151.2:c.556G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 18 NP_001341080.1:p.Glu186Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 29 NM_001354156.2:c.211G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 23 NP_001341085.1:p.Glu71Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 2 NM_203354.3:c.493G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 2 NP_976229.1:p.Glu165Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 18 NM_001354145.2:c.289G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 12 NP_001341074.1:p.Glu97Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 27 NM_001354154.2:c.529G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 21 NP_001341083.1:p.Glu177Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 23 NM_001354150.2:c.511G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 17 NP_001341079.1:p.Glu171Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 17 NM_001354144.2:c.289G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 11 NP_001341073.1:p.Glu97Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 19 NM_001354146.2:c.493G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 13 NP_001341075.1:p.Glu165Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 3 NM_203355.3:c.529G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 3 NP_976230.1:p.Glu177Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 10 NM_001354137.2:c.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 4 NP_001341066.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 12 NM_001354139.2:c.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 5 NP_001341068.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 6 NM_001247989.2:c.544G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 6 NP_001234918.1:p.Glu182Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 8 NM_001329214.4:c.2353G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform 8 precursor NP_001316143.1:p.Glu785Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant 31 NR_148721.1:n.696G>A N/A Non Coding Transcript Variant
MIA2 transcript variant 32 NR_148722.2:n.604G>A N/A Non Coding Transcript Variant
MIA2 transcript variant 33 NR_148723.2:n.494G>A N/A Non Coding Transcript Variant
MIA2 transcript variant X1 XM_024449592.2:c.2395G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X1 XP_024305360.1:p.Glu799Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X2 XM_024449593.2:c.2380G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X2 XP_024305361.1:p.Glu794Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X3 XM_024449594.2:c.2368G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X3 XP_024305362.1:p.Glu790Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X4 XM_024449595.2:c.2395G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X4 XP_024305363.1:p.Glu799Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X5 XM_047431398.1:c.2368G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X5 XP_047287354.1:p.Glu790Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X6 XM_024449596.2:c.2353G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X6 XP_024305364.1:p.Glu785Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X7 XM_047431399.1:c.2071G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X7 XP_047287355.1:p.Glu691Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X8 XM_024449597.2:c.2395G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X8 XP_024305365.1:p.Glu799Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X9 XM_047431401.1:c.2368G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X9 XP_047287357.1:p.Glu790Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X10 XM_047431402.1:c.2395G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X10 XP_047287358.1:p.Glu799Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X11 XM_017021314.2:c.571G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X11 XP_016876803.1:p.Glu191Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X12 XM_017021315.3:c.553G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X12 XP_016876804.1:p.Glu185Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X13 XM_017021316.2:c.535G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X13 XP_016876805.1:p.Glu179Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X14 XM_011536778.3:c.520G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X14 XP_011535080.1:p.Glu174Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X15 XM_047431403.1:c.508G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X15 XP_047287359.1:p.Glu170Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X16 XM_017021317.3:c.484G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876806.1:p.Glu162Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X17 XM_017021330.2:c.484G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876819.1:p.Glu162Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X18 XM_017021318.2:c.484G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876807.1:p.Glu162Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X19 XM_017021319.2:c.484G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X16 XP_016876808.1:p.Glu162Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X20 XM_047431405.1:c.469G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X17 XP_047287361.1:p.Glu157Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X21 XM_047431406.1:c.457G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X18 XP_047287362.1:p.Glu153Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X22 XM_047431407.1:c.544G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X19 XP_047287363.1:p.Glu182Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X23 XM_047431408.1:c.511G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X20 XP_047287364.1:p.Glu171Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X24 XM_047431409.1:c.508G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X21 XP_047287365.1:p.Glu170Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X25 XM_017021323.2:c.331G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_016876812.1:p.Glu111Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X26 XM_017021324.3:c.331G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_016876813.1:p.Glu111Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X27 XM_024449598.2:c.331G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_024305366.1:p.Glu111Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X28 XM_047431410.1:c.331G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X22 XP_047287366.1:p.Glu111Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X29 XM_047431411.1:c.442G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X23 XP_047287367.1:p.Glu148Lys E (Glu) > K (Lys) Missense Variant
MIA2 transcript variant X30 XM_047431412.1:c.529G>A E [GAA] > K [AAA] Coding Sequence Variant
melanoma inhibitory activity protein 2 isoform X24 XP_047287368.1:p.Glu177Lys E (Glu) > K (Lys) Missense Variant
Help

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

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.39294033= NC_000014.9:g.39294033G>A
GRCh37.p13 chr 14 NC_000014.8:g.39763237= NC_000014.8:g.39763237G>A
MIA2 RefSeqGene NG_030349.3:g.65113= NG_030349.3:g.65113G>A
MIA2 transcript variant 8 NM_001329214.4:c.2353= NM_001329214.4:c.2353G>A
MIA2 transcript variant 8 NM_001329214.3:c.2353= NM_001329214.3:c.2353G>A
MIA2 transcript variant 8 NM_001329214.2:c.2353= NM_001329214.2:c.2353G>A
MIA2 transcript variant 8 NM_001329214.1:c.2353= NM_001329214.1:c.2353G>A
MIA2 transcript variant 1 NM_005930.4:c.529= NM_005930.4:c.529G>A
MIA2 transcript variant 1 NM_005930.3:c.529= NM_005930.3:c.529G>A
MIA2 transcript variant 2 NM_203354.3:c.493= NM_203354.3:c.493G>A
MIA2 transcript variant 2 NM_203354.2:c.493= NM_203354.2:c.493G>A
MIA2 transcript variant 3 NM_203355.3:c.529= NM_203355.3:c.529G>A
MIA2 transcript variant 3 NM_203355.2:c.529= NM_203355.2:c.529G>A
MIA2 transcript variant 25 NM_001354152.3:c.556= NM_001354152.3:c.556G>A
MIA2 transcript variant 25 NM_001354152.2:c.556= NM_001354152.2:c.556G>A
MIA2 transcript variant 25 NM_001354152.1:c.556= NM_001354152.1:c.556G>A
MIA2 transcript variant 27 NM_001354154.2:c.529= NM_001354154.2:c.529G>A
MIA2 transcript variant 27 NM_001354154.1:c.529= NM_001354154.1:c.529G>A
MIA2 transcript variant 28 NM_001354155.2:c.529= NM_001354155.2:c.529G>A
MIA2 transcript variant 28 NM_001354155.1:c.529= NM_001354155.1:c.529G>A
MIA2 transcript variant 18 NM_001354145.2:c.289= NM_001354145.2:c.289G>A
MIA2 transcript variant 18 NM_001354145.1:c.289= NM_001354145.1:c.289G>A
MIA2 transcript variant 32 NR_148722.2:n.604= NR_148722.2:n.604G>A
MIA2 transcript variant 32 NR_148722.1:n.865= NR_148722.1:n.865G>A
MIA2 transcript variant 24 NM_001354151.2:c.556= NM_001354151.2:c.556G>A
MIA2 transcript variant 24 NM_001354151.1:c.556= NM_001354151.1:c.556G>A
MIA2 transcript variant 6 NM_001247989.2:c.544= NM_001247989.2:c.544G>A
MIA2 transcript variant 6 NM_001247989.1:c.544= NM_001247989.1:c.544G>A
MIA2 transcript variant 10 NM_001354137.2:c.442= NM_001354137.2:c.442G>A
MIA2 transcript variant 10 NM_001354137.1:c.442= NM_001354137.1:c.442G>A
MIA2 transcript variant 13 NM_001354140.2:c.289= NM_001354140.2:c.289G>A
MIA2 transcript variant 13 NM_001354140.1:c.289= NM_001354140.1:c.289G>A
MIA2 transcript variant 33 NR_148723.2:n.494= NR_148723.2:n.494G>A
MIA2 transcript variant 33 NR_148723.1:n.755= NR_148723.1:n.755G>A
MIA2 transcript variant 23 NM_001354150.2:c.511= NM_001354150.2:c.511G>A
MIA2 transcript variant 23 NM_001354150.1:c.511= NM_001354150.1:c.511G>A
MIA2 transcript variant 30 NM_001354157.2:c.451= NM_001354157.2:c.451G>A
MIA2 transcript variant 30 NM_001354157.1:c.451= NM_001354157.1:c.451G>A
MIA2 transcript variant 7 NM_001247990.2:c.304= NM_001247990.2:c.304G>A
MIA2 transcript variant 7 NM_001247990.1:c.304= NM_001247990.1:c.304G>A
MIA2 transcript variant 14 NM_001354141.2:c.289= NM_001354141.2:c.289G>A
MIA2 transcript variant 14 NM_001354141.1:c.289= NM_001354141.1:c.289G>A
MIA2 transcript variant 4 NM_203356.2:c.442= NM_203356.2:c.442G>A
MIA2 transcript variant 19 NM_001354146.2:c.493= NM_001354146.2:c.493G>A
MIA2 transcript variant 19 NM_001354146.1:c.493= NM_001354146.1:c.493G>A
MIA2 transcript variant 12 NM_001354139.2:c.442= NM_001354139.2:c.442G>A
MIA2 transcript variant 12 NM_001354139.1:c.442= NM_001354139.1:c.442G>A
MIA2 transcript variant 29 NM_001354156.2:c.211= NM_001354156.2:c.211G>A
MIA2 transcript variant 29 NM_001354156.1:c.211= NM_001354156.1:c.211G>A
MIA2 transcript variant 26 NM_001354153.2:c.451= NM_001354153.2:c.451G>A
MIA2 transcript variant 26 NM_001354153.1:c.451= NM_001354153.1:c.451G>A
MIA2 transcript variant 17 NM_001354144.2:c.289= NM_001354144.2:c.289G>A
MIA2 transcript variant 17 NM_001354144.1:c.289= NM_001354144.1:c.289G>A
MIA2 transcript variant 21 NM_001354148.1:c.442= NM_001354148.1:c.442G>A
MIA2 transcript variant 20 NM_001354147.1:c.364= NM_001354147.1:c.364G>A
MIA2 transcript variant 31 NR_148721.1:n.696= NR_148721.1:n.696G>A
MIA2 transcript variant 5 NM_001247988.1:c.442= NM_001247988.1:c.442G>A
MIA2 transcript variant 11 NM_001354138.1:c.442= NM_001354138.1:c.442G>A
MIA2 transcript variant 22 NM_001354149.1:c.364= NM_001354149.1:c.364G>A
MIA2 transcript variant 15 NM_001354142.1:c.289= NM_001354142.1:c.289G>A
MIA2 transcript variant 16 NM_001354143.1:c.289= NM_001354143.1:c.289G>A
MIA2 transcript variant X16 XM_017021317.3:c.484= XM_017021317.3:c.484G>A
MIA2 transcript variant X13 XM_017021317.2:c.484= XM_017021317.2:c.484G>A
CTAGE5 transcript variant X7 XM_017021317.1:c.484= XM_017021317.1:c.484G>A
MIA2 transcript variant X14 XM_011536778.3:c.520= XM_011536778.3:c.520G>A
MIA2 transcript variant X12 XM_011536778.2:c.520= XM_011536778.2:c.520G>A
CTAGE5 transcript variant X3 XM_011536778.1:c.520= XM_011536778.1:c.520G>A
MIA2 transcript variant X12 XM_017021315.3:c.553= XM_017021315.3:c.553G>A
MIA2 transcript variant X10 XM_017021315.2:c.553= XM_017021315.2:c.553G>A
CTAGE5 transcript variant X3 XM_017021315.1:c.553= XM_017021315.1:c.553G>A
MIA2 transcript variant X26 XM_017021324.3:c.331= XM_017021324.3:c.331G>A
MIA2 transcript variant X17 XM_017021324.2:c.331= XM_017021324.2:c.331G>A
CTAGE5 transcript variant X15 XM_017021324.1:c.331= XM_017021324.1:c.331G>A
MIA2 transcript variant X1 XM_024449592.2:c.2395= XM_024449592.2:c.2395G>A
MIA2 transcript variant X1 XM_024449592.1:c.2395= XM_024449592.1:c.2395G>A
MIA2 transcript variant X2 XM_024449593.2:c.2380= XM_024449593.2:c.2380G>A
MIA2 transcript variant X2 XM_024449593.1:c.2380= XM_024449593.1:c.2380G>A
MIA2 transcript variant X3 XM_024449594.2:c.2368= XM_024449594.2:c.2368G>A
MIA2 transcript variant X3 XM_024449594.1:c.2368= XM_024449594.1:c.2368G>A
MIA2 transcript variant X4 XM_024449595.2:c.2395= XM_024449595.2:c.2395G>A
MIA2 transcript variant X4 XM_024449595.1:c.2395= XM_024449595.1:c.2395G>A
MIA2 transcript variant X6 XM_024449596.2:c.2353= XM_024449596.2:c.2353G>A
MIA2 transcript variant X5 XM_024449596.1:c.2353= XM_024449596.1:c.2353G>A
MIA2 transcript variant X8 XM_024449597.2:c.2395= XM_024449597.2:c.2395G>A
MIA2 transcript variant X6 XM_024449597.1:c.2395= XM_024449597.1:c.2395G>A
MIA2 transcript variant X11 XM_017021314.2:c.571= XM_017021314.2:c.571G>A
MIA2 transcript variant X9 XM_017021314.1:c.571= XM_017021314.1:c.571G>A
MIA2 transcript variant X13 XM_017021316.2:c.535= XM_017021316.2:c.535G>A
MIA2 transcript variant X11 XM_017021316.1:c.535= XM_017021316.1:c.535G>A
MIA2 transcript variant X17 XM_017021330.2:c.484= XM_017021330.2:c.484G>A
MIA2 transcript variant X21 XM_017021330.1:c.484= XM_017021330.1:c.484G>A
MIA2 transcript variant X27 XM_024449598.2:c.331= XM_024449598.2:c.331G>A
MIA2 transcript variant X18 XM_024449598.1:c.331= XM_024449598.1:c.331G>A
MIA2 transcript variant X18 XM_017021318.2:c.484= XM_017021318.2:c.484G>A
MIA2 transcript variant X14 XM_017021318.1:c.484= XM_017021318.1:c.484G>A
MIA2 transcript variant X19 XM_017021319.2:c.484= XM_017021319.2:c.484G>A
MIA2 transcript variant X15 XM_017021319.1:c.484= XM_017021319.1:c.484G>A
MIA2 transcript variant X25 XM_017021323.2:c.331= XM_017021323.2:c.331G>A
MIA2 transcript variant X16 XM_017021323.1:c.331= XM_017021323.1:c.331G>A
MIA2 transcript variant X7 XM_047431399.1:c.2071= XM_047431399.1:c.2071G>A
MIA2 transcript variant X5 XM_047431398.1:c.2368= XM_047431398.1:c.2368G>A
MIA2 transcript variant X9 XM_047431401.1:c.2368= XM_047431401.1:c.2368G>A
CTAGE5 transcript variant 5 NM_203357.1:c.304= NM_203357.1:c.304G>A
MIA2 transcript variant X15 XM_047431403.1:c.508= XM_047431403.1:c.508G>A
MIA2 transcript variant X20 XM_047431405.1:c.469= XM_047431405.1:c.469G>A
MIA2 transcript variant X21 XM_047431406.1:c.457= XM_047431406.1:c.457G>A
MIA2 transcript variant X22 XM_047431407.1:c.544= XM_047431407.1:c.544G>A
MIA2 transcript variant X24 XM_047431409.1:c.508= XM_047431409.1:c.508G>A
MIA2 transcript variant X28 XM_047431410.1:c.331= XM_047431410.1:c.331G>A
MIA2 transcript variant X29 XM_047431411.1:c.442= XM_047431411.1:c.442G>A
MIA2 transcript variant X23 XM_047431408.1:c.511= XM_047431408.1:c.511G>A
MIA2 transcript variant X10 XM_047431402.1:c.2395= XM_047431402.1:c.2395G>A
MIA2 transcript variant X30 XM_047431412.1:c.529= XM_047431412.1:c.529G>A
melanoma inhibitory activity protein 2 isoform 8 precursor NP_001316143.1:p.Glu785= NP_001316143.1:p.Glu785Lys
melanoma inhibitory activity protein 2 isoform 1 NP_005921.2:p.Glu177= NP_005921.2:p.Glu177Lys
melanoma inhibitory activity protein 2 isoform 2 NP_976229.1:p.Glu165= NP_976229.1:p.Glu165Lys
melanoma inhibitory activity protein 2 isoform 3 NP_976230.1:p.Glu177= NP_976230.1:p.Glu177Lys
melanoma inhibitory activity protein 2 isoform 19 NP_001341081.1:p.Glu186= NP_001341081.1:p.Glu186Lys
melanoma inhibitory activity protein 2 isoform 21 NP_001341083.1:p.Glu177= NP_001341083.1:p.Glu177Lys
melanoma inhibitory activity protein 2 isoform 22 NP_001341084.1:p.Glu177= NP_001341084.1:p.Glu177Lys
melanoma inhibitory activity protein 2 isoform 12 NP_001341074.1:p.Glu97= NP_001341074.1:p.Glu97Lys
melanoma inhibitory activity protein 2 isoform 18 NP_001341080.1:p.Glu186= NP_001341080.1:p.Glu186Lys
melanoma inhibitory activity protein 2 isoform 6 NP_001234918.1:p.Glu182= NP_001234918.1:p.Glu182Lys
melanoma inhibitory activity protein 2 isoform 4 NP_001341066.1:p.Glu148= NP_001341066.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform 10 NP_001341069.1:p.Glu97= NP_001341069.1:p.Glu97Lys
melanoma inhibitory activity protein 2 isoform 17 NP_001341079.1:p.Glu171= NP_001341079.1:p.Glu171Lys
melanoma inhibitory activity protein 2 isoform 24 NP_001341086.1:p.Glu151= NP_001341086.1:p.Glu151Lys
melanoma inhibitory activity protein 2 isoform 7 NP_001234919.1:p.Glu102= NP_001234919.1:p.Glu102Lys
melanoma inhibitory activity protein 2 isoform 10 NP_001341070.1:p.Glu97= NP_001341070.1:p.Glu97Lys
melanoma inhibitory activity protein 2 isoform 4 NP_976231.1:p.Glu148= NP_976231.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform 13 NP_001341075.1:p.Glu165= NP_001341075.1:p.Glu165Lys
melanoma inhibitory activity protein 2 isoform 5 NP_001341068.1:p.Glu148= NP_001341068.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform 23 NP_001341085.1:p.Glu71= NP_001341085.1:p.Glu71Lys
melanoma inhibitory activity protein 2 isoform 20 NP_001341082.1:p.Glu151= NP_001341082.1:p.Glu151Lys
melanoma inhibitory activity protein 2 isoform 11 NP_001341073.1:p.Glu97= NP_001341073.1:p.Glu97Lys
melanoma inhibitory activity protein 2 isoform 15 NP_001341077.1:p.Glu148= NP_001341077.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform 14 NP_001341076.1:p.Glu122= NP_001341076.1:p.Glu122Lys
melanoma inhibitory activity protein 2 isoform 5 NP_001234917.1:p.Glu148= NP_001234917.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform 4 NP_001341067.1:p.Glu148= NP_001341067.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform 16 NP_001341078.1:p.Glu122= NP_001341078.1:p.Glu122Lys
melanoma inhibitory activity protein 2 isoform 11 NP_001341071.1:p.Glu97= NP_001341071.1:p.Glu97Lys
melanoma inhibitory activity protein 2 isoform 11 NP_001341072.1:p.Glu97= NP_001341072.1:p.Glu97Lys
melanoma inhibitory activity protein 2 isoform X16 XP_016876806.1:p.Glu162= XP_016876806.1:p.Glu162Lys
melanoma inhibitory activity protein 2 isoform X14 XP_011535080.1:p.Glu174= XP_011535080.1:p.Glu174Lys
melanoma inhibitory activity protein 2 isoform X12 XP_016876804.1:p.Glu185= XP_016876804.1:p.Glu185Lys
melanoma inhibitory activity protein 2 isoform X22 XP_016876813.1:p.Glu111= XP_016876813.1:p.Glu111Lys
melanoma inhibitory activity protein 2 isoform X1 XP_024305360.1:p.Glu799= XP_024305360.1:p.Glu799Lys
melanoma inhibitory activity protein 2 isoform X2 XP_024305361.1:p.Glu794= XP_024305361.1:p.Glu794Lys
melanoma inhibitory activity protein 2 isoform X3 XP_024305362.1:p.Glu790= XP_024305362.1:p.Glu790Lys
melanoma inhibitory activity protein 2 isoform X4 XP_024305363.1:p.Glu799= XP_024305363.1:p.Glu799Lys
melanoma inhibitory activity protein 2 isoform X6 XP_024305364.1:p.Glu785= XP_024305364.1:p.Glu785Lys
melanoma inhibitory activity protein 2 isoform X8 XP_024305365.1:p.Glu799= XP_024305365.1:p.Glu799Lys
melanoma inhibitory activity protein 2 isoform X11 XP_016876803.1:p.Glu191= XP_016876803.1:p.Glu191Lys
melanoma inhibitory activity protein 2 isoform X13 XP_016876805.1:p.Glu179= XP_016876805.1:p.Glu179Lys
melanoma inhibitory activity protein 2 isoform X16 XP_016876819.1:p.Glu162= XP_016876819.1:p.Glu162Lys
melanoma inhibitory activity protein 2 isoform X22 XP_024305366.1:p.Glu111= XP_024305366.1:p.Glu111Lys
melanoma inhibitory activity protein 2 isoform X16 XP_016876807.1:p.Glu162= XP_016876807.1:p.Glu162Lys
melanoma inhibitory activity protein 2 isoform X16 XP_016876808.1:p.Glu162= XP_016876808.1:p.Glu162Lys
melanoma inhibitory activity protein 2 isoform X22 XP_016876812.1:p.Glu111= XP_016876812.1:p.Glu111Lys
melanoma inhibitory activity protein 2 isoform X7 XP_047287355.1:p.Glu691= XP_047287355.1:p.Glu691Lys
melanoma inhibitory activity protein 2 isoform X5 XP_047287354.1:p.Glu790= XP_047287354.1:p.Glu790Lys
melanoma inhibitory activity protein 2 isoform X9 XP_047287357.1:p.Glu790= XP_047287357.1:p.Glu790Lys
melanoma inhibitory activity protein 2 isoform X15 XP_047287359.1:p.Glu170= XP_047287359.1:p.Glu170Lys
melanoma inhibitory activity protein 2 isoform X17 XP_047287361.1:p.Glu157= XP_047287361.1:p.Glu157Lys
melanoma inhibitory activity protein 2 isoform X18 XP_047287362.1:p.Glu153= XP_047287362.1:p.Glu153Lys
melanoma inhibitory activity protein 2 isoform X19 XP_047287363.1:p.Glu182= XP_047287363.1:p.Glu182Lys
melanoma inhibitory activity protein 2 isoform X21 XP_047287365.1:p.Glu170= XP_047287365.1:p.Glu170Lys
melanoma inhibitory activity protein 2 isoform X22 XP_047287366.1:p.Glu111= XP_047287366.1:p.Glu111Lys
melanoma inhibitory activity protein 2 isoform X23 XP_047287367.1:p.Glu148= XP_047287367.1:p.Glu148Lys
melanoma inhibitory activity protein 2 isoform X20 XP_047287364.1:p.Glu171= XP_047287364.1:p.Glu171Lys
melanoma inhibitory activity protein 2 isoform X10 XP_047287358.1:p.Glu799= XP_047287358.1:p.Glu799Lys
melanoma inhibitory activity protein 2 isoform X24 XP_047287368.1:p.Glu177= XP_047287368.1:p.Glu177Lys
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740682607 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000014.8 - 39763237 Jul 13, 2019 (153)
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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
9933274, ss2740682607 NC_000014.8:39763236:G:A NC_000014.9:39294032:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1489619222

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
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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.

Software version is: 2.0.1.post820+afb47a3d