Transcript #00005457 (NM_001844.4, COL2A1 gene)

Transcript name transcript variant 1
Gene name COL2A1 (collagen, type II, alpha 1)
Chromosome 12
Transcript - NCBI ID NM_001844.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001835.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1250 entries on 13 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-119C>T r.(?) p.(=)
-?/. - c.-13C>A r.(?) p.(=)
+/. _1_54_ c.(?_-181)_(*442_?) r.0 p.0
+/. _1_54_ c.(?_-181)_(*442_?) r.0 p.0
+/. _1_54_ c.(?_-181)_(*442_?) r.0 p.0
+/. _1_54_ c.(?_-181)_(*442_?) r.spl p.?
+/. - c.1A>G r.(?) p.(Met1?)
+/. 1 c.1A>G r.(?) p.M1?
+/+ 1 c.3G>T r.(?) p.M1?
?/. - c.8G>T r.(?) p.(Arg3Leu)
-/. 1 c.25A>T r.(?) p.(Thr9Ser)
-/. - c.25A>T r.(?) p.(Thr9Ser)
-/. - c.25A>T r.(?) p.(Thr9Ser)
-/. - c.25A>T r.(?) p.(Thr9Ser)
-/. - c.25A>T r.(?) p.(Thr9Ser)
+/. 1 c.26C>A r.(?) p.(Thr9Lys)
?/. - c.49G>T r.(?) p.(Val17Phe)
?/. - c.65G>A r.(?) p.(Arg22Gln)
+/. - c.69T>A r.(?) p.(Cys23*)
+/. 1 c.70C>T r.(?) p.(Gln24*)
+/. 1 c.74G>C r.(?) p.(G25A)
+?/. 1 c.85C>T r.(?) p.(Gln29*)
-?/. - c.85+9T>C r.(=) p.(=)
-/. 1i c.85+18C>G r.(=) p.(=)
-/. - c.85+18C>G r.(=) p.(=)
-/. - c.85+18C>G r.(=) p.(=)
-/. - c.85+18C>G r.(=) p.(=)
-/. - c.85+18C>G r.(=) p.(=)
+/. 1i_16i c.85+1360_1023+555del r.(?) p.?
+?/. - c.115C>T r.(?) p.(Gln39*)
+?/. 2 c.115C>T r.(?) p.(Gln39*)
+/. 2 c.123T>A r.(?) p.(Tyr41*)
+/. 2 c.141G>A r.(?) p.(Trp47*)
?/. - c.146C>T r.(?) p.(Pro49Leu)
+/. 2 c.146del r.(?) p.(Pro49Argfs*19)
-/. - c.147G>A r.(?) p.(Pro49=)
+/. 2 c.158_161dup r.(?) p.(Ile54Metfs*6)
+?/. - c.166_167del r.(?) p.(Val56Leufs*2)
+/. 2 c.166_167del r.(?) p.(Val56Leufs*2)
+/. 2 c.166_167del r.(?) p.(Val56Leufs*2)
+/. 2 c.166_167del r.(?) p.(Val56Leufs*2)
+/. - c.166_167del r.(?) p.(Val56Leufs*2)
+/+ 2 c.170G>A r.(?) p.(Cys57Tyr)
+/. 2 c.171_172del r.(?) p.(Cys57Ter)
+/+ 2 c.192C>A r.(?) p.(Cys64*)
+/. 2 c.192C>A r.(?) p.(Cys64*)
+/. - c.192C>A r.(?) p.(Cys64Ter)
+/. 2 c.192C>A r.(?) p.(Cys64*)
+/. - c.192C>A r.(?) p.(Cys64Ter)
+/. 2 c.211_233dup r.(?) p.(Glu79Thrfs*2)
+/+ 2 c.211_233dup r.(?) p.(Glu79Thrfs*2)
-/. - c.213C>T r.(?) p.(Asp71=)
-?/. - c.213C>T r.(?) p.(Asp71=)
-/. - c.213C>T r.(?) p.(Asp71=)
-?/. - c.214G>A r.(?) p.(Val72Met)
+/. 2 c.219_221delinsGG r.(?) p.(Asp74Alafs*43)
+/. 2 c.219_221delinsGG r.(?) p.(Asp74Alafs*43)
+/. 2 c.221del r.(?) p.(Asp74Alafs*43)
+/. 2 c.237del r.(?) p.(Ile80Serfs*37)
+/. 2 c.237del r.(?) p.(Ile80Serfs*37)
-?/. - c.246C>T r.(?) p.(Phe82=)
+/. 2 c.258C>A r.(?) p.(C86*)
+?/. - c.258C>A r.(?) p.(Cys86*)
+/. - c.258C>A r.(?) p.(Cys86*)
+/. 2 c.258C>A r.(?) p.(Cys86*)
+/. 2 c.266_278del r.(?) p.(Cys89Serfs*24)
?/. 2i c.292+157C>A r.(=) p.(=)
+/. 2i c.293-1G>A r.spl p.?
+/. - c.309+1G>A r.spl? p.?
+/. 4 c.311del r.(?) p.(Gly104Aspfs*13)
-?/. - c.319G>A r.(?) p.(Gly107Arg)
-?/. - c.326C>G r.(?) p.(Pro109Arg)
-?/. - c.326C>G r.(?) p.(Pro109Arg)
+/. 4i c.342+1G>A r.spl p.(Asp114_Ile115insIleSerAlaAsnTyrSerHisProValLeuGlnLeuLeu*14)
+/. 5 c.351_352ins(10) r.(?) p.?
+?/. - c.386G>A r.(?) p.(Gly129Glu)
?/. - c.398C>A r.(?) p.(Pro133His)
+/. 6 c.398C>A r.(?) p.(Pro133His)
+/. 6 c.406dup r.(?) p.(Asp136Glyfs*4)
+/. 6 c.409C>T r.(?) p.(Arg137Cys)
+/. 6 c.409C>T r.(?) p.(Arg137Cys)
+/. 6 c.410G>A r.(?) p.(Arg137His)
?/. - c.410G>A r.(?) p.(Arg137His)
-/. - c.426A>T r.(?) p.(Glu142Asp)
-/. - c.426A>T r.(?) p.(Glu142Asp)
+/. 6i c.430-1G>C r.spl p.(Lys143_Asn178delExon7); p.(Gly144Valfs*54); p.(Gln125_Gly126ins19*20)
+/. 7 c.431G>T r.(?) p.(Gly144Val)
?/. 7 c.434C>T r.(?) p.(Ala145Val)
-?/. - c.435C>G r.(?) p.(Ala145=)
+/. 7 c.492del r.(?) p.(Gly165Valfs*34)
+/. - c.492del r.(?) p.(Gly165ValfsTer34)
+/. 7 c.492del r.(?) p.(Gly165Valfs*34)
+/. 7 c.492del r.(?) p.(Gly165Valfs*34)
+/. 7 c.492del r.(?) p.(Gly165Valfs*34)
+/. 7 c.492del r.(?) p.(Gly165Valfs*34)
-/. - c.504C>A r.(=) p.(=)
-/. - c.504C>A r.(?) p.(Gly168=)
-/. - c.504C>A r.(?) p.(Gly168=)
-/. - c.504C>A r.(?) p.(Gly168=)
?/. - c.508C>A r.(?) p.(Pro170Thr)
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