View all transcript variants in gene TNNT2

Information The variants shown are described using the transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+? c.248A>G p.(Asn83Ser) missense_variant - 9/17 - r.(?) - subst g.201334784T>C - 4.680 - TNNT2_000006 rs397516450 - ; clinvar; - - - LOVD
+?/+? c.294T>G p.(Asp98Glu) missense_variant,splice_region_variant - 9/17 - r.(?) - subst g.201334738A>C - -3.620 - TNNT2_000005 rs397516454 - ; clinvar; - - - LOVD
+?/+? c.382G>A p.(Glu128Lys) missense_variant - 10/17 - r.(?) - subst g.201334348C>T - 4.100 - TNNT2_000004 rs397516461 - ; clinvar; - - - LOVD
+?/+? c.421C>T p.(Arg141Trp) missense_variant - 11/17 - r.(?) - subst g.201333494G>A - 3.240 - TNNT2_000003 rs74315380 - ; clinvar; 15923195;22675533;14654368;15769782;21551322;12923187;15623536;17932326;23539503;15542288;{PMID - - LOVD
+?/+? c.422G>A p.(Arg141Gln) missense_variant - 11/17 - r.(?) - subst g.201333493C>T - 4.280 - TNNT2_000002 rs397516464 - ; clinvar; 15542288;15923195;18506004 - - LOVD
+?/+? c.422G>C p.(Arg141Pro) missense_variant - 11/17 - r.(?) - subst g.201333493C>G - 4.280 - TNNT2_000001 rs397516464 - ; clinvar; 15542288;15923195;18506004 - - LOVD
+?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) - subst g.201333469C>T - 4.280 - TNNT2_000007 rs397516466 - ; clinvar; 20973921 - - LOVD
-?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) - subst g.201333464G>T - 3.340 - TNNT2_000011 rs74315379 - ; clinvar; 11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782 - - LOVD
-?/-? c.451C>T p.(Arg151Trp) missense_variant - 11/17 - r.(?) - subst g.201333464G>A - 3.340 - TNNT2_000010 rs74315379 - ; clinvar; 11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782 - - LOVD
+?/+? c.505C>T p.(Arg169*) stop_gained - 12/17 - r.(?) - subst g.201332519G>A - 2.900 - TNNT2_000009 rs397516469 - ; clinvar; - - - LOVD
+?/+? c.548G>A p.(Arg183Gln) missense_variant - 12/17 - r.(?) - subst g.201332476C>T - 4.900 - TNNT2_000008 rs397516471 - ; clinvar; 19324435 - - LOVD
+/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) - subst g.201331116C>A - 4.440 - TNNT2_000015 rs121964860 - ; clinvar; 15542288;15923195;20031601 - - LOVD
+/+ c.649_651del p.(Lys217del) - - - - r.(?) - del g.201331100_201331102del - - - TNNT2_000014 rs121964859 - ; clinvar; 15542288;8088824;11106718 - - LOVD
+/+ c.650_652del p.(Lys217del) - - - - r.(?) - del g.201331099_201331101del - - - TNNT2_000013 rs45578238 - ; clinvar; 11773635;15623536;18612386;20079745;23383212;23539503;12923187;15542288;11106718;11862580;{PMID - - LOVD
+/+ c.829G>A p.(Asp277Asn) missense_variant - 15/16 - r.(?) - subst g.201328764C>T - 4.070 - TNNT2_000012 rs121964861 - ; clinvar; 15542288 - - LOVD
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