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87 records found for search term Matn2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156063765CV2389407single nucleotide variantNM_002380.5(MATN2):c.17C>T (p.Ala6Val)not specified [RCV004238139]likely benign89788811797888117Humanname
15104411CV700692single nucleotide variantNM_002380.5(MATN2):c.41G>C (p.Gly14Ala)not provided [RCV000959680]benign89788814197888141Human2name
15104411CV700692single nucleotide variantNM_002380.5(MATN2):c.41G>C (p.Gly14Ala)not provided [RCV000959680]benign89788814197888142Human2name
15104414CV700693single nucleotide variantNM_002380.5(MATN2):c.408T>G (p.Thr136=)not provided [RCV000959681]benign89793121897931218Humanname
156283525CV2291828single nucleotide variantNM_002380.5(MATN2):c.175G>A (p.Val59Ile)not specified [RCV004158361]uncertain significance89793098597930985Humanname
401924075CV2821189single nucleotide variantNM_002380.5(MATN2):c.2652T>C (p.Tyr884=)not provided [RCV003435565]likely benign89803311298033112Humanname
405659350CV3278098single nucleotide variantNM_002380.5(MATN2):c.191G>T (p.Ser64Ile)not specified [RCV004416773]uncertain significance89793100197931001Humanname
405659361CV3278102single nucleotide variantNM_002380.5(MATN2):c.245A>T (p.Asp82Val)not specified [RCV004416777]uncertain significance89793105597931055Humanname
407472777CV3457019single nucleotide variantNM_002380.5(MATN2):c.268G>A (p.Gly90Ser)not specified [RCV004637690]uncertain significance89793107897931078Humanname
597637557CV3694379single nucleotide variantNM_002380.5(MATN2):c.189C>G (p.Asp63Glu)not specified [RCV004940994]uncertain significance89793099997930999Humanname
156256571CV2204518single nucleotide variantNM_002380.5(MATN2):c.867C>G (p.Asn289Lys)not specified [RCV004081637]uncertain significance89796143997961439Humanname
156357447CV2254004single nucleotide variantNM_002380.5(MATN2):c.716C>T (p.Ala239Val)not specified [RCV004129460]likely benign89794178097941780Humanname
156261214CV2282382single nucleotide variantNM_002380.5(MATN2):c.311C>T (p.Thr104Ile)not specified [RCV004133201]uncertain significance89793112197931121Humanname
155937606CV2373720single nucleotide variantNM_002380.5(MATN2):c.461C>T (p.Ala154Val)not specified [RCV004222795]uncertain significance89793127197931271Humanname
329375719CV2431620single nucleotide variantNM_002380.5(MATN2):c.464G>A (p.Arg155Gln)not specified [RCV004254765]uncertain significance89793127497931274Humanname
329399539CV2443215single nucleotide variantNM_002380.5(MATN2):c.490G>A (p.Val164Ile)not specified [RCV004260028]uncertain significance89793130097931300Humanname
329397545CV2456286single nucleotide variantNM_002380.5(MATN2):c.382C>T (p.Arg128Trp)not specified [RCV004275458]uncertain significance89793119297931192Humanname
401780441CV2674026single nucleotide variantNM_002380.5(MATN2):c.904G>A (p.Val302Ile)not specified [RCV004293391]uncertain significance89796147697961476Humanname
401737697CV2699889single nucleotide variantNM_002380.5(MATN2):c.493A>T (p.Ile165Leu)not specified [RCV004308525]uncertain significance89793130397931303Humanname
401738349CV2714422single nucleotide variantNM_002380.5(MATN2):c.746G>T (p.Cys249Phe)not specified [RCV004317953]uncertain significance89794181097941810Humanname
401890009CV2762107single nucleotide variantNM_002380.5(MATN2):c.713C>T (p.Thr238Met)not specified [RCV004341923]uncertain significance89794177797941777Humanname
401865186CV2791550single nucleotide variantNM_002380.5(MATN2):c.365G>A (p.Arg122His)not specified [RCV004358923]uncertain significance89793117597931175Humanname
407472769CV3457015single nucleotide variantNM_002380.5(MATN2):c.409G>A (p.Gly137Arg)not specified [RCV004637688]uncertain significance89793121997931219Humanname
597637525CV3694372single nucleotide variantNM_002380.5(MATN2):c.593A>G (p.Gln198Arg)not specified [RCV004940988]uncertain significance89793140397931403Humanname
597637542CV3694375single nucleotide variantNM_002380.5(MATN2):c.890T>G (p.Val297Gly)not specified [RCV004940991]uncertain significance89796146297961462Humanname
597637545CV3694377single nucleotide variantNM_002380.5(MATN2):c.595G>T (p.Val199Leu)not specified [RCV004940992]uncertain significance89793140597931405Humanname
598199453CV3981721single nucleotide variantNM_002380.5(MATN2):c.324G>C (p.Glu108Asp)not specified [RCV005375701]uncertain significance89793113497931134Humanname
598199463CV3981722single nucleotide variantNM_002380.5(MATN2):c.460G>A (p.Ala154Thr)not specified [RCV005375702]uncertain significance89793127097931270Humanname
598177431CV3981723single nucleotide variantNM_002380.5(MATN2):c.620T>C (p.Ile207Thr)not specified [RCV005371596]uncertain significance89793143097931430Humanname
598177445CV3981727single nucleotide variantNM_002380.5(MATN2):c.364C>A (p.Arg122Ser)not specified [RCV005371598]uncertain significance89793117497931174Humanname
8633144CV88357single nucleotide variantNM_002380.3(MATN2):c.676G>A (p.Glu226Lys)Malignant melanoma [RCV000068449]not provided89793148697931486Humanname
156075113CV2198069single nucleotide variantNM_002380.5(MATN2):c.2825T>C (p.Met942Thr)not specified [RCV004079671]uncertain significance89803566698035666Humanname
155971718CV2214169single nucleotide variantNM_002380.5(MATN2):c.1927G>A (p.Gly643Arg)not specified [RCV004086167]uncertain significance89802131298021312Humanname
156332912CV2220757single nucleotide variantNM_002380.5(MATN2):c.1003T>C (p.Cys335Arg)not specified [RCV004097925]uncertain significance89797893097978930Humanname
156300384CV2248804single nucleotide variantNM_002380.5(MATN2):c.1744G>A (p.Val582Met)not specified [RCV004121953]uncertain significance89801804198018041Humanname
156045494CV2268604single nucleotide variantNM_002380.5(MATN2):c.1669C>T (p.Leu557Phe)not specified [RCV004124016]uncertain significance89801663598016635Humanname
156337746CV2271173single nucleotide variantNM_002380.5(MATN2):c.2535G>C (p.Gln845His)not specified [RCV004134537]uncertain significance89803227198032271Humanname
156130058CV2279762single nucleotide variantNM_002380.5(MATN2):c.2183T>C (p.Met728Thr)not specified [RCV004144376]uncertain significance89802765698027656Humanname
155959805CV2285318single nucleotide variantNM_002380.5(MATN2):c.2032G>A (p.Val678Ile)not specified [RCV004139197]uncertain significance89802750598027505Humanname
156263472CV2329377single nucleotide variantNM_002380.5(MATN2):c.2740G>A (p.Asp914Asn)not specified [RCV004187393]uncertain significance89803358498033584Humanname
155932339CV2364377single nucleotide variantNM_002380.5(MATN2):c.1382C>T (p.Thr461Met)not specified [RCV004223592]uncertain significance89800715998007159Humanname
156345912CV2377811single nucleotide variantNM_002380.5(MATN2):c.1934G>A (p.Arg645Gln)not specified [RCV004230390]uncertain significance89802131998021319Humanname
156209439CV2382631single nucleotide variantNM_002380.5(MATN2):c.2473G>A (p.Glu825Lys)not specified [RCV004232954]uncertain significance89803057898030578Humanname
155966581CV2396090single nucleotide variantNM_002380.5(MATN2):c.2678G>A (p.Arg893Gln)not specified [RCV004237623]uncertain significance89803313898033138Humanname
156168410CV2399144single nucleotide variantNM_002380.5(MATN2):c.1549C>T (p.Arg517Cys)not specified [RCV004246576]uncertain significance89800757798007577Humanname
329372799CV2434021single nucleotide variantNM_002380.5(MATN2):c.1073C>T (p.Thr358Met)not specified [RCV004249925]uncertain significance89797900097979000Humanname
329376977CV2435764single nucleotide variantNM_002380.5(MATN2):c.1580A>C (p.Asp527Ala)not specified [RCV004253392]uncertain significance89801654698016546Humanname
329391793CV2453132single nucleotide variantNM_002380.5(MATN2):c.2521T>G (p.Ser841Ala)not specified [RCV004279518]uncertain significance89803225798032257Humanname
329382192CV2467546single nucleotide variantNM_002380.5(MATN2):c.1657G>C (p.Glu553Gln)not specified [RCV004287143]uncertain significance89801662398016623Humanname
329353608CV2469309single nucleotide variantNM_002380.5(MATN2):c.1907G>A (p.Gly636Glu)not specified [RCV004280642]uncertain significance89802129298021292Humanname
329388816CV2469593single nucleotide variantNM_002380.5(MATN2):c.2557C>T (p.Pro853Ser)not specified [RCV004283024]uncertain significance89803229398032293Humanname
401742085CV2677506single nucleotide variantNM_002380.5(MATN2):c.1933C>T (p.Arg645Trp)not specified [RCV004291616]uncertain significance89802131898021318Humanname
401752446CV2682823single nucleotide variantNM_002380.5(MATN2):c.1766C>T (p.Thr589Met)not specified [RCV004281794]uncertain significance89801806398018063Humanname
401752507CV2682843single nucleotide variantNM_002380.5(MATN2):c.1163T>C (p.Leu388Pro)not specified [RCV004283646]uncertain significance89799456197994561Humanname
401762282CV2723385single nucleotide variantNM_002380.5(MATN2):c.2733A>T (p.Glu911Asp)not specified [RCV004329592]uncertain significance89803357798033577Humanname
401855226CV2757188single nucleotide variantNM_002380.5(MATN2):c.1306C>A (p.Pro436Thr)not specified [RCV004338792]uncertain significance89800376298003762Humanname
401863280CV2765700single nucleotide variantNM_002380.5(MATN2):c.1961T>C (p.Ile654Thr)not specified [RCV004335707]uncertain significance89802743498027434Humanname
401866146CV2775435single nucleotide variantNM_002380.5(MATN2):c.2365A>G (p.Met789Val)not specified [RCV004348831]uncertain significance89803047098030470Humanname
401898997CV2785928single nucleotide variantNM_002380.5(MATN2):c.1384G>A (p.Glu462Lys)not specified [RCV004359775]uncertain significance89800716198007161Humanname
401876852CV2793257single nucleotide variantNM_002380.5(MATN2):c.2242C>A (p.Gln748Lys)not specified [RCV004362085]uncertain significance89802771598027715Humanname
405659334CV3278093single nucleotide variantNM_002380.5(MATN2):c.1041T>A (p.His347Gln)not specified [RCV004416768]uncertain significance89797896897978968Humanname
405659338CV3278094single nucleotide variantNM_002380.5(MATN2):c.1055T>G (p.Leu352Arg)not specified [RCV004416769]uncertain significance89797898297978982Humanname
405659344CV3278096single nucleotide variantNM_002380.5(MATN2):c.1435C>T (p.Leu479Phe)not specified [RCV004416771]uncertain significance89800721298007212Humanname
405659347CV3278097single nucleotide variantNM_002380.5(MATN2):c.1511G>A (p.Arg504Lys)not specified [RCV004416772]uncertain significance89800753998007539Humanname
405659353CV3278099single nucleotide variantNM_002380.5(MATN2):c.1932A>T (p.Arg644Ser)not specified [RCV004416774]uncertain significance89802131798021317Humanname
405659356CV3278100single nucleotide variantNM_002380.5(MATN2):c.2074G>A (p.Ala692Thr)not specified [RCV004416775]uncertain significance89802754798027547Humanname
405659359CV3278101single nucleotide variantNM_002380.5(MATN2):c.2291T>C (p.Ile764Thr)not specified [RCV004416776]uncertain significance89802776498027764Humanname
405659364CV3278103single nucleotide variantNM_002380.5(MATN2):c.2677C>T (p.Arg893Trp)not specified [RCV004416778]uncertain significance89803313798033137Humanname
407472765CV3457014single nucleotide variantNM_002380.5(MATN2):c.2811G>C (p.Gln937His)not specified [RCV004637687]uncertain significance89803365598033655Humanname
407472773CV3457016single nucleotide variantNM_002380.5(MATN2):c.1550G>A (p.Arg517His)not specified [RCV004637689]uncertain significance89800757898007578Humanname
407469351CV3457017single nucleotide variantNM_002380.5(MATN2):c.1013C>T (p.Ala338Val)not specified [RCV004636594]uncertain significance89797894097978940Humanname
597637499CV3694367single nucleotide variantNM_002380.5(MATN2):c.2072C>T (p.Ala691Val)not specified [RCV004940983]uncertain significance89802754598027545Humanname
597637505CV3694368single nucleotide variantNM_002380.5(MATN2):c.1289G>A (p.Arg430His)not specified [RCV004940984]uncertain significance89800374598003745Humanname
597637510CV3694369single nucleotide variantNM_002380.5(MATN2):c.1190A>T (p.Lys397Met)not specified [RCV004940985]uncertain significance89799458897994588Humanname
597637514CV3694370single nucleotide variantNM_002380.5(MATN2):c.1348C>G (p.Gln450Glu)not specified [RCV004940986]uncertain significance89800712598007125Humanname
597637519CV3694371single nucleotide variantNM_002380.5(MATN2):c.1615T>G (p.Ser539Ala)not specified [RCV004940987]uncertain significance89801658198016581Humanname
597637531CV3694373single nucleotide variantNM_002380.5(MATN2):c.1355A>G (p.His452Arg)not specified [RCV004940989]uncertain significance89800713298007132Humanname
597637537CV3694374single nucleotide variantNM_002380.5(MATN2):c.1954G>A (p.Gly652Ser)not specified [RCV004940990]uncertain significance89802742798027427Humanname
597637552CV3694378single nucleotide variantNM_002380.5(MATN2):c.1969G>A (p.Val657Ile)not specified [RCV004940993]uncertain significance89802744298027442Humanname
598199436CV3981718single nucleotide variantNM_002380.5(MATN2):c.1751G>A (p.Ser584Asn)not specified [RCV005375699]uncertain significance89801804898018048Humanname
598199444CV3981719single nucleotide variantNM_002380.5(MATN2):c.2220C>A (p.His740Gln)not specified [RCV005375700]uncertain significance89802769398027693Humanname
598199471CV3981724single nucleotide variantNM_002380.5(MATN2):c.1216T>C (p.Cys406Arg)not specified [RCV005375703]uncertain significance89800367298003672Humanname
598177439CV3981725single nucleotide variantNM_002380.5(MATN2):c.2255C>T (p.Ala752Val)not specified [RCV005371597]uncertain significance89802772898027728Humanname
598199479CV3981726single nucleotide variantNM_002380.5(MATN2):c.2488C>G (p.Leu830Val)not specified [RCV005375704]uncertain significance89803059398030593Humanname
598177451CV3981728single nucleotide variantNM_002380.5(MATN2):c.2593G>C (p.Val865Leu)not specified [RCV005371599]uncertain significance89803305398033053Humanname
598177457CV3981729single nucleotide variantNM_002380.5(MATN2):c.2114C>G (p.Thr705Arg)not specified [RCV005371600]uncertain significance89802758798027587Humanname
598199488CV3981731single nucleotide variantNM_002380.5(MATN2):c.1243C>T (p.His415Tyr)not specified [RCV005375705]uncertain significance89800369998003699Humanname