NOD2 (NM_022162.2) sequence variants
(CARD15/IBD1/CLR16.3/NLRC2)

Editor(s): Suzanne LESAGE   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for NOD2 : 148

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
5UTc.-53C>T-
 2011-10-21
intron 1c.74-29T>G-
 2003-05-14
intron 1c.74-25G>T-
 2003-05-13
intron 1c.74-7T>A-
 2003-05-13
exon 2c.113G>Tp.Arg38Met
 2007-10-29
exon 2c.241C>Gp.Leu81Val
 2016-10-13
exon 2c.315G>Ap.(=)
 2003-05-06
exon 2c.337G>Ap.Asp113Asn
 2004-08-05
exon 2c.357G>Tp.(=)
 2003-05-06
exon 2c.413G>Ap.Arg138Gln
 2003-05-14
exon 2c.418G>Ap.Ala140Thr
 2003-05-06
exon 2c.469T>Cp.Trp157Arg
 2003-05-13
exon 2c.534C>Gp.(=)
 2003-05-13
exon 3c.566C>Tp.Thr189Met
 2003-05-13
exon 3c.633C>Tp.(=)
 2003-05-13
intron 3c.647-18_16 delTCT-
 2012-09-27
exon 4c.697C>Tp.Gln233*
 2012-10-24
exon 4c.703C>Tp.Arg235Cys
 2003-05-13
exon 4c.734C>Tp.Thr245Met
 2011-09-02
exon 4c.743T>Gp.Leu248Arg
 2003-05-13
exon 4c.802C>Tp.Pro268Ser
 2003-06-04
exon 4c.859C>Tp.His287Tyr
 2015-12-23
exon 4c.866A>Gp.Asn289Ser
 2003-05-13
exon 4c.871G>Ap.Asp291Asn
 2003-05-13
exon 4c.881C>Gp.Thr294Ser
 2003-05-13
exon 4c.902C>Tp.Ala301Val
 2003-05-13
exon 4c.931C>Tp.Arg311Trp
 2003-05-13
exon 4c.1000C>Tp.Arg334Trp
 2003-05-14
exon 4c.1001G>Ap.Arg334Gln
 2003-05-14
exon 4c.1042C>Gp.Leu348Val
 2003-05-13
exon 4c.1045C>Tp.Leu349Phe
 2016-11-07
exon 4c.1055A>Gp.His352Arg
 2003-05-13
exon 4c.1065G>Ap.Trp355*
 2007-10-29
exon 4c.1070A>Cp.Asp357Ala
 2004-08-05
exon 4c.1087A>Tp.Ile363Phe
 2004-08-05
exon 4c.1117C>Tp.Arg373Cys
 2003-05-13
exon 4c.1144G>Ap.Asp382Asn
 2014-10-21
exon 4c.1146C>Gp.Asp382Glu
 2004-10-04
exon 4c.1147G>Ap.Glu383Lys
 2005-05-11
exon 4c.1148A>Gp.Glu383Gly
 2009-01-13
exon 4c.1169A>Tp.Asp390Val
 2015-04-02
exon 4c.1171C>Tp.Arg391Cys
 2006-05-10
exon 4c.1178G>Ap.Arg393His
 2011-09-02
exon 4c.1241A>Gp.Asn414Ser
 2003-05-13
exon 4c.1277G>Ap.Arg426His
 2018-04-30
exon 4c.1281G>Ap.(=)
 2003-05-13
exon 4c.1292C>Tp.Ser431Leu
 2003-05-13
exon 4c.1295C>Tp.Ala432Val
 2003-05-13
exon 4c.1321G>Ap.Glu441Lys
 2003-05-13
exon 4c.1366C>Tp.(=)
 2003-05-13
exon 4c.1377C>Tp.(=)
 2003-05-13
exon 4c.1387C>Gp.Pro463Ala
 2006-05-10
exon 4c.1390G>Tp.Gly464Trp
 2008-08-18
exon 4c.1405C>Tp.Leu469Phe
 2003-05-14
exon 4c.1439 A>Gp.His480Arg
 2016-12-27
exon 4c.1442G>Ap.Gly481Asp
 2009-04-14
exon 4c.1469G>Tp.Trp490Leu
 2006-01-05
exon 4c.1484G>Ap.Cys495Tyr
 2005-05-27
exon 4c.1487A>Tp.His496Leu
 2004-10-04
exon 4c.1493_1498del6p.Glu498_Leu500delinsVal
 2011-09-02
exon 4c.1502T>Cp.Leu501Pro
 2013-05-06
exon 4c.1509G>Ap.(=)
 2003-05-13
exon 4c.1519C>Tp.Pro507Ser
 2015-02-20
exon 4c.1534G>Cp.Asp512His
 2013-02-05
exon 4c.1538T>Cp.Met513Thr
 2004-10-04
exon 4c.1538T>Gp.Met513Arg
 2011-05-17
exon 4c.1558C>Tp.His520Tyr
 2014-10-21
exon 4c.1581C>Gp.(=)
 2003-05-13
exon 4c.1648C>Gp.Leu550Val
 2004-08-05
exon 4c.1672_1677delp.Leu558_Gly559del
 2003-05-13
exon 4c.1687T>Cp.Tyr563His
 2013-02-05
exon 4c.1759C>Tp.Arg587Cys
 2005-05-27
exon 4c.1761T>Gp.Arg587Arg
 2003-05-13
exon 4c.1788G>Ap.(=)
 2003-05-13
exon 4c.1798G>Ap.Glu600Lys
 2014-10-21
exon 4c.1799A>Cp.Glu600Ala
 2014-10-21
exon 4c.1808A>Gp.His603Arg
 2018-03-26
exon 4c.1813A>Cp.Thr605Pro
 2004-10-04
exon 4c.1814C>Ap.Thr605Asn
 2011-05-17
exon 4c.1833C>Tp.(=)
 2003-05-13
exon 4c.1834G>Ap.Ala612Thr
 2003-05-13
exon 4c.1835C>Tp.Ala612Val
 2003-05-13
exon 4c.1999G>Ap.Glu667Lys
 2016-09-26
exon 4c.2003C>Tp.Pro668Leu
 2015-12-23
exon 4c.2010C>Ap.Asn670Lys
 2004-10-04
exon 4c.2046G>Tp.Leu682Phe
 2015-12-23
exon 4c.2050C>Tp.Arg684Trp
 2003-05-13
exon 4c.2051G>Ap.Arg684Gln
 2013-07-03
exon 4c.2104C>Tp.Arg702Trp
 2003-06-04
exon 4c.2107C>Tp.Arg703Cys
 2003-05-13
exon 4c.2137C>Tp.Arg713Cys
 2003-05-13
exon 4c.2138G>Ap.Arg713His
 2006-05-10
exon 4c.2174C>Gp.Ala725Gly
 2003-05-13
exon 4c.2180C>Tp.Pro727Leu
 2007-10-29
exon 4c.2197G>Tp.Val733Leu
 2016-10-13
exon 4c.2220C>Tp.(=)
 2003-05-13
exon 4c.2264C>Tp.Ala755Val
 2003-05-13
exon 4c.2273C>Tp.Ala758Val
 2003-05-13
exon 4c.2278C>Tp.Arg760Cys
 2006-05-10
exon 4c.2332G>Ap.Glu778Lys
 2003-05-13
exon 4c.2368C>Tp.Arg790Trp
 2006-05-10
exon 4c.2371C>Tp.Arg791Trp
 2006-05-10
exon 4c.2372G>Ap.Arg791Gln
 2003-09-08
exon 4c.2377G>Ap.Val793Met
 2003-05-13
exon 4c.2406G>Tp.(=)
 2010-01-13
exon 4c.2425C>Ap.Gln809Lys
 2014-10-21
exon 4c.2446G>Ap.Val816Ile
 2016-10-27
intron 4c.2462+10A>C-
 2003-05-13
exon 5c.2470G>Ap.Asp824Asn
 2003-09-08
exon 5c.2475C>Gp.Asn825Lys
 2006-05-10
exon 5c.2527G>Ap.Glu843Lys
 2003-05-13
exon 5c.2546C>Tp.Ala849Val
 2006-05-10
intron 5c.2546+2dup-
 2017-12-06
intron 5c.2547-11G>T-
 2013-10-15
exon 6c.2555A>Gp.Asn852Ser
 2004-08-05
exon 6c.2558A>Gp.Asn853Ser
 2003-05-13
exon 6c.2587A>Gp.Met863Val
 2003-05-13
exon 6c.2619C>Tp.(=)
 2003-05-13
intron 6c.2630+35T>A-
 2003-05-13
intron 6c.2631-5T>C-
 2003-05-13
exon 7c.2653G>Ap.Ala885Thr
 2011-09-02
exon 7c.2656G>Ap.Ala886Thr
 2003-05-13
exon 7c.2686C>Tp.Arg896*
 2011-09-02
exon 7c.2704C>Ap.Gln902Lys
 2015-12-23
intron 7c.2715-81G>A-
 2003-09-08
intron 7c.2715-75G>A-
 2003-09-08
exon 8c.2719T>Cp.Trp907Arg
 2007-10-29
exon 8c.2722G>Cp.Gly908Arg
 2003-06-04
exon 8c.2739C>Tp.(=)
 2003-05-13
exon 8c.2740G>Ap.Glu914Lys
 2013-08-27
exon 8c.2753C>Ap.Ala918Asp
 2003-05-13
exon 8c.2771G>Ap.Gly924Asp
 2003-05-13
intron 8c.2798+158C>T-
 2011-09-02
exon 9c.2817T>Cp.(=)
 2003-05-13
exon 9c.2863G>Ap.Val955Ile
 2003-05-13
exon 10c.2914G>Ap.Val972Ile
 2003-05-13
exon 10c.2925C>Tp.(=)
 2003-09-05
exon 10c.2933G>Ap.Gly978Glu
 2003-05-14
exon 11c.3019dupCp.Leu1007Profs*2
 2003-06-04
intron 11c.3051-102C>G-
 2003-05-14
exon 12c.3055C>Tp.Arg1019*
 2007-10-29
exon 12c.3055C>Gp.Arg1019Gly
 2011-09-02
3UTc.*9G>A-
 2003-05-14
3UTc.*375G>A-
 2011-10-21
3UTc.*873C>T-
 2010-02-01
3UTc.*982C>T-
 2011-10-21
3UTc.*1030T>C-
 2010-02-01
3UTc.*1200A>G-
 2011-10-21