Canonical Allele Identifier: CA117020
Gene: NOD2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4695
dbSNP Id: rs104895460

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50711316C>T , CM000678.2:g.50711316C>T GRCh38
NC_000016.9:g.50745227C>T , CM000678.1:g.50745227C>T GRCh37
NC_000016.8:g.49302728C>T NCBI36
NG_007508.1:g.19178C>T , LRG_177:g.19178C>T

Transcript Alleles

HGVS Amino-acid change
NM_001293557.1:c.1324C>T VV NP_001280486.1:p.Leu442Phe
NM_022162.2:c.1405C>T VV NP_071445.1:p.Leu469Phe
XM_005256084.2:c.1324C>T XP_005256141.1:p.Leu442Phe
XM_006721242.2:c.1324C>T XP_006721305.1:p.Leu442Phe
XM_006721243.2:c.1324C>T XP_006721306.1:p.Leu442Phe
XM_011523257.1:c.901C>T XP_011521559.1:p.Leu301Phe
XM_011523258.1:c.901C>T XP_011521560.1:p.Leu301Phe
XM_011523259.1:c.739C>T XP_011521561.1:p.Leu247Phe
XM_011523260.1:c.1324C>T XP_011521562.1:p.Leu442Phe
XM_011523261.1:c.1324C>T XP_011521563.1:p.Leu442Phe
XR_429725.2:n.1414C>T
XR_429726.2:n.1414C>T
XR_933387.1:n.1414C>T
XM_005256084.4:c.1324C>T
XM_006721242.4:c.1324C>T
XM_006721243.4:c.1324C>T
XM_011523259.2:c.739C>T
XM_011523260.3:c.1324C>T
XM_011523261.2:c.1324C>T
XM_017023535.1:c.832C>T XP_016879024.1:p.Leu278Phe
XM_017023536.1:c.739C>T XP_016879025.1:p.Leu247Phe
XM_017023537.1:c.739C>T XP_016879026.1:p.Leu247Phe
XM_017023538.1:c.739C>T XP_016879027.1:p.Leu247Phe
XR_429725.3:n.1367C>T
XR_429726.3:n.1367C>T
XR_933387.2:n.1367C>T
ENST00000300589.6:c.1405C>T ENSP00000300589.2:p.Leu469Phe