Transcript #00007762 (NM_001999.3, FBN2 gene)

Transcript name fibrillin 2
Gene name FBN2 (fibrillin 2)
Chromosome 5
Transcript - NCBI ID NM_001999.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001990.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

552 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-17843989_*3766623dup - -
-?/. - c.26T>C r.(?) p.(Leu9Pro)
?/. 1 c.68C>G r.(?) p.(Ala23Gly)
?/. 1 c.92A>T r.(?) p.(Gln31Leu)
-?/. - c.110C>A r.(?) p.(Pro37Gln)
-?/. - c.110C>A r.(?) p.(Pro37Gln)
-?/. - c.110C>A r.(?) p.(Pro37Gln)
-/. - c.111G>A r.(?) p.(Pro37=)
-/. - c.111G>A r.(?) p.(Pro37=)
?/. - c.132G>C r.(?) p.(Pro44=)
?/. - c.158G>A r.(?) p.(Gly53Asp)
?/. - c.168C>T r.(?) p.(Gly56=)
-/. - c.183C>G r.(?) p.(Pro61=)
-/. - c.183C>G r.(?) p.(Pro61=)
-?/. - c.186G>A r.(?) p.(Glu62=)
-?/. - c.195G>A r.(?) p.(Glu65=)
-?/. - c.203C>T r.(?) p.(Ala68Val)
-/. - c.203C>T r.(?) p.(Ala68Val)
-/. - c.203C>T r.(?) p.(Ala68Val)
-/. - c.203C>T r.(?) p.(Ala68Val)
?/. - c.230G>T r.(?) p.(Arg77Leu)
?/. - c.253G>C r.(?) p.(Gly85Arg)
-?/. - c.254+5G>C r.spl? p.?
-?/. - c.254+373C>T r.(=) p.(=)
?/. - c.287_289del r.(?) p.(Tyr96del)
?/. - c.376C>T r.(?) p.(Arg126Cys)
-?/. - c.518C>T r.(?) p.(Thr173Ile)
-?/. - c.518C>T r.(?) p.(Thr173Ile)
?/. 4 c.518C>T r.(?) p.(Thr173Ile)
-?/. - c.522T>C r.(?) p.(Tyr174=)
-?/. - c.579C>G r.(?) p.(Pro193=)
-?/. - c.628+155T>A r.(=) p.(=)
-?/. - c.629-18_629-15del r.(=) p.(=)
-/. - c.629-9A>G r.(=) p.(=)
?/. 6 c.728T>C r.(?) p.(Ile243Thr)
-?/. - c.728T>C r.(?) p.(Ile243Thr)
-?/. - c.728T>C r.(?) p.(Ile243Thr)
-/. - c.728T>C r.(?) p.(Ile243Thr)
-?/. - c.728T>C r.(?) p.(Ile243Thr)
?/. 6 c.728T>C r.(?) p.(Ile243Thr)
-?/. - c.738G>A r.(?) p.(Ala246=)
-?/. - c.738G>A r.(?) p.(Ala246=)
-/. - c.738G>A r.(?) p.(Ala246=)
?/. - c.756G>T r.(?) p.(Glu252Asp)
?/. - c.811A>C r.(?) p.(Thr271Pro)
?/. - c.811A>C r.(?) p.(Thr271Pro)
-?/. - c.827-3C>T r.spl? p.?
-/. - c.829G>A r.(?) p.(Val277Ile)
-?/. - c.829G>A r.(?) p.(Val277Ile)
-?/. - c.829G>A r.(?) p.(Val277Ile)
?/. 7 c.829G>A r.(?) p.(Val277Ile)
?/. 7 c.829G>A r.(?) p.(Val277Ile)
?/. - c.884C>T r.(?) p.(Thr295Ile)
?/. - c.910C>T r.(?) p.(Pro304Ser)
-/. - c.952+141A>C r.(=) p.(=)
-/. - c.952+4177C>T r.(=) p.(=)
-?/. - c.953-8T>G r.(=) p.(=)
-?/. - c.953-8T>G r.(=) p.(=)
-?/. - c.953-8T>G r.(=) p.(=)
-?/. - c.953-8T>G r.(=) p.(=)
-?/. - c.957T>C r.(?) p.(Ile319=)
-?/. - c.968G>A r.(?) p.(Ser323Asn)
?/. 8 c.968G>A r.(?) p.(Ser323Asn)
-?/. - c.976C>T r.(?) p.(Pro326Ser)
-?/. - c.976C>T r.(?) p.(Pro326Ser)
?/. - c.976C>T r.(?) p.(Pro326Ser)
?/. 8 c.976C>T r.(?) p.(Pro326Ser)
?/. 8 c.976C>T r.(?) p.(Pro326Ser)
-/. - c.976C>T r.(?) p.(Pro326Ser)
-/. - c.976C>T r.(?) p.(Pro326Ser)
?/. 8 c.976C>T r.(?) p.(Pro326Ser)
-?/. - c.1011C>T r.(?) p.(Thr337=)
-?/. - c.1011C>T r.(?) p.(Thr337=)
-?/. - c.1040G>A r.(?) p.(Arg347His)
-?/. - c.1040G>A r.(?) p.(Arg347His)
-?/. - c.1040G>A r.(?) p.(Arg347His)
?/. - c.1040G>A r.(?) p.(Arg347His)
?/. 8 c.1040G>A r.(?) p.(Arg347His)
?/. 8 c.1040G>A r.(?) p.(Arg347His)
?/. 8 c.1040G>A r.(?) p.(Arg347His)
+/. - c.1064G>A r.(?) p.(Gly355Asp)
-?/. - c.1079-14T>G r.(=) p.(=)
?/. - c.1121G>A r.(?) p.(Arg374His)
?/. 9 c.1139C>T r.(?) p.(Pro380Leu)
-?/. - c.1148T>A r.(?) p.(Met383Lys)
?/. 9 c.1157T>C r.(?) p.(Met386Thr)
?/. 10 c.1238A>G r.(?) p.(Tyr413Cys)
?/. 10 c.1285A>G r.(?) p.(Ser429Gly)
-?/. - c.1422C>T r.(?) p.(Ala474=)
?/. - c.1423G>C r.(?) p.(Gly475Arg)
?/. - c.1423G>C r.(?) p.(Gly475Arg)
?/. - c.1435G>A r.(?) p.(Gly479Arg)
?/. 10 c.1435G>A r.(?) p.(Gly479Arg)
?/. - c.1453A>G r.(?) p.(Ile485Val)
-?/. - c.1465+177A>G r.(=) p.(=)
-?/. - c.1466-5C>T r.spl? p.?
-/. - c.1466-5C>T r.spl? p.?
-?/. - c.1466-4G>A r.spl? p.?
-?/. - c.1466-4G>A r.spl? p.?
-?/. - c.1466-4G>A r.spl? p.?
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