Transcript #00002109 (NM_014694.3, ADAMTSL2 gene)

Transcript name transcript variant 1
Gene name ADAMTSL2 (ADAMTS-like 2)
Chromosome 9
Transcript - NCBI ID NM_014694.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055509.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-150-17T>G r.(=) p.(=)
?/. - c.-125T>A r.(?) p.(=)
-?/. - c.11G>C r.(?) p.(Arg4Thr)
?/. - c.31_46del r.(?) p.(Ala11PhefsTer5)
-?/. - c.58G>A r.(?) p.(Val20Ile)
-?/. - c.88A>G r.(?) p.(Thr30Ala)
-?/. - c.90+8G>C r.(=) p.(=)
+/. - c.215G>A r.(?) p.(Arg72Gln)
?/. - c.266C>A r.(?) p.(Thr89Asn)
-/. - c.309+16G>T r.(=) p.(=)
-/. - c.309+16G>T r.(=) p.(=)
-/. - c.310-9G>A r.(=) p.(=)
-?/. - c.310-9G>A r.(=) p.(=)
-/. - c.310-9G>A r.(=) p.(=)
-?/. - c.312G>A r.(?) p.(Glu104=)
+/. - c.338G>T r.(?) p.(Arg113Leu)
-?/. - c.352G>A r.(?) p.(Val118Ile)
-?/. - c.352G>A r.(?) p.(Val118Ile)
?/. - c.454T>G r.(?) p.(Cys152Gly)
?/. - c.463G>A r.(?) p.(Val155Met)
?/. - c.469G>A r.(?) p.(Gly157Ser)
+?/. - c.493G>A r.(?) p.(Ala165Thr)
?/. - c.650C>T r.(?) p.(Thr217Met)
-/. - c.683-12T>G r.(=) p.(=)
-/. - c.683-12T>G r.(=) p.(=)
-/. - c.683-12T>G r.(=) p.(=)
?/. - c.757G>A r.(?) p.(Val253Met)
?/. - c.763+8C>T r.(=) p.(=)
-/. - c.774C>T r.(?) p.(Asp258=)
-/. - c.774C>T r.(?) p.(Asp258=)
-/. - c.774C>T r.(?) p.(Asp258=)
+/. - c.799G>A r.(?) p.(Gly267Ser)
-/. - c.840A>T r.(?) p.(Ala280=)
-/. - c.840A>T r.(?) p.(Ala280=)
-/. - c.840A>T r.(?) p.(Ala280=)
-/. - c.859A>C r.(?) p.(Arg287=)
-/. - c.859A>C r.(?) p.(Arg287=)
-/. - c.859A>C r.(?) p.(Arg287=)
?/. - c.878A>G r.(?) p.(Tyr293Cys)
-/. - c.900C>T r.(?) p.(Ile300=)
-/. - c.900C>T r.(?) p.(Ile300=)
-/. - c.939+11C>T r.(=) p.(=)
-/. - c.939+11C>T r.(=) p.(=)
-/. - c.939+11C>T r.(=) p.(=)
-?/. - c.1006G>A r.(?) p.(Glu336Lys)
?/. - c.1066G>C r.(?) p.(Asp356His)
?/. - c.1075G>A r.(?) p.(Gly359Arg)
-/. - c.1090G>A r.(?) p.(Val364Ile)
-?/. - c.1148_1177del r.(?) p.(Asn383_Asp392del)
?/. - c.1148_1177del r.(?) p.(Asn383_Asp392del)
?/. - c.1148_1177del r.(?) p.(Asn383_Asp392del)
-?/. - c.1222G>A r.(?) p.(Glu408Lys)
-/. - c.1261G>A r.(?) p.(Gly421Ser)
-?/. - c.1280G>A r.(?) p.(Arg427His)
?/. - c.1456G>A r.(?) p.(Ala486Thr)
-?/. - c.1641C>T r.(?) p.(His547=)
-/. - c.1641C>T r.(?) p.(His547=)
-?/. - c.1641C>T r.(?) p.(His547=)
-/. - c.2007C>T r.(?) p.(Ala669=)
-?/. - c.2022C>T r.(?) p.(Pro674=)
-/. - c.2022C>T r.(?) p.(Pro674=)
-?/. - c.2049C>T r.(?) p.(Pro683=)
-?/. - c.2089-12del r.(=) p.(=)
-?/. - c.2142G>A r.(?) p.(Ser714=)
-?/. - c.2142G>A r.(?) p.(Ser714=)
-?/. - c.2313A>G r.(?) p.(Val771=)
-/. - c.2313A>G r.(?) p.(Val771=)
-/. - c.2313A>G r.(?) p.(Val771=)
-?/. - c.2325C>G r.(?) p.(=)
-?/. - c.2436C>T r.(?) p.(Arg812=)
-?/. - c.2436C>T r.(?) p.(Arg812=)
-?/. - c.2436C>T r.(?) p.(Arg812=)
-?/. - c.2520C>T r.(?) p.(=)
-?/. - c.2613G>A r.(?) p.(Val871=)
-/. - c.2613G>A r.(?) p.(Val871=)
-?/. - c.*92G>A r.(=) p.(=)
-?/. - c.*158G>A r.(=) p.(=)
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