Canonical Allele Identifier: CA117022
Gene: NOD2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4696
dbSNP Id: rs104895462

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710911C>T , CM000678.2:g.50710911C>T GRCh38
NC_000016.9:g.50744822C>T , CM000678.1:g.50744822C>T GRCh37
NC_000016.8:g.49302323C>T NCBI36
NG_007508.1:g.18773C>T , LRG_177:g.18773C>T

Transcript Alleles

HGVS Amino-acid change
NM_001293557.1:c.919C>T VV NP_001280486.1:p.Arg307Trp
NM_022162.2:c.1000C>T VV NP_071445.1:p.Arg334Trp
XM_005256084.2:c.919C>T XP_005256141.1:p.Arg307Trp
XM_006721242.2:c.919C>T XP_006721305.1:p.Arg307Trp
XM_006721243.2:c.919C>T XP_006721306.1:p.Arg307Trp
XM_011523257.1:c.496C>T XP_011521559.1:p.Arg166Trp
XM_011523258.1:c.496C>T XP_011521560.1:p.Arg166Trp
XM_011523259.1:c.334C>T XP_011521561.1:p.Arg112Trp
XM_011523260.1:c.919C>T XP_011521562.1:p.Arg307Trp
XM_011523261.1:c.919C>T XP_011521563.1:p.Arg307Trp
XR_429725.2:n.1009C>T
XR_429726.2:n.1009C>T
XR_933387.1:n.1009C>T
XM_005256084.4:c.919C>T
XM_006721242.4:c.919C>T
XM_006721243.4:c.919C>T
XM_011523259.2:c.334C>T
XM_011523260.3:c.919C>T
XM_011523261.2:c.919C>T
XM_017023535.1:c.427C>T XP_016879024.1:p.Arg143Trp
XM_017023536.1:c.334C>T XP_016879025.1:p.Arg112Trp
XM_017023537.1:c.334C>T XP_016879026.1:p.Arg112Trp
XM_017023538.1:c.334C>T XP_016879027.1:p.Arg112Trp
XR_429725.3:n.962C>T
XR_429726.3:n.962C>T
XR_933387.2:n.962C>T
ENST00000300589.6:c.1000C>T ENSP00000300589.2:p.Arg334Trp
ENST00000526417.6:n.1060C>T