Transcript #00003346

Transcript name transcript variant 1
Gene name TNNT2 (troponin T type 2 (cardiac))
Chromosome 1
Transcript - NCBI ID NM_000364.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000355.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+?/+? c.248A>G p.(Asn83Ser) missense_variant - 9/17 - r.(?) -
+?/+? c.294T>G p.(Asp98Glu) missense_variant,splice_region_variant - 9/17 - r.(?) -
./. c.316G>A - - - - - - -
+?/+? c.382G>A p.(Glu128Lys) missense_variant - 10/17 - r.(?) -
+?/+? c.421C>T p.(Arg141Trp) missense_variant - 11/17 - r.(?) -
+?/+? c.422G>A p.(Arg141Gln) missense_variant - 11/17 - r.(?) -
+?/+? c.422G>C p.(Arg141Pro) missense_variant - 11/17 - r.(?) -
+?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) -
-?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) -
-?/-? c.451C>T p.(Arg151Trp) missense_variant - 11/17 - r.(?) -
./. c.461G>A - - - - - - -
+?/+? c.505C>T p.(Arg169*) stop_gained - 12/17 - r.(?) -
+?/+? c.548G>A p.(Arg183Gln) missense_variant - 12/17 - r.(?) -
+/+ c.635G>T p.(Arg212Leu) missense_variant - 13/16 - r.(?) -
+/+ c.649_651del p.(Lys217del) - - - - r.(?) -
+/+ c.650_652del p.(Lys217del) - - - - r.(?) -
+/+ c.829G>A p.(Asp277Asn) missense_variant - 15/16 - r.(?) -
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