Canonical Allele Identifier: CA8051383
Gene: NOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 319434
dbSNP Id: rs148516118

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710645C>T , CM000678.2:g.50710645C>T GRCh38
NC_000016.9:g.50744556C>T , CM000678.1:g.50744556C>T GRCh37
NC_000016.8:g.49302057C>T NCBI36
NG_007508.1:g.18507C>T , LRG_177:g.18507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.653C>T ENSP00000493088.1:p.Thr218Met
ENST00000646677.2:c.653C>T ENSP00000496533.1:p.Thr218Met
ENST00000641284.1:c.653C>T ENSP00000493088.1:p.Thr218Met
ENST00000646677.1:c.653C>T ENSP00000496533.1:p.Thr218Met
ENST00000647318.2:c.653C>T MANE Select ENSP00000495993.1:p.Thr218Met
ENST00000300589.6:c.734C>T ENSP00000300589.2:p.Thr245Met
ENST00000526417.6:n.794C>T
ENST00000527070.5:c.*1349C>T ENSP00000435149.1:n.*1349C>T
ENST00000532206.1:n.732C>T
NM_001293557.1:c.653C>T NP_001280486.1:p.Thr218Met
NM_022162.2:c.734C>T NP_071445.1:p.Thr245Met
XM_005256084.2:c.653C>T XP_005256141.1:p.Thr218Met
XM_006721242.2:c.653C>T XP_006721305.1:p.Thr218Met
XM_006721243.2:c.653C>T XP_006721306.1:p.Thr218Met
XM_011523257.1:c.230C>T XP_011521559.1:p.Thr77Met
XM_011523258.1:c.230C>T XP_011521560.1:p.Thr77Met
XM_011523259.1:c.68C>T XP_011521561.1:p.Thr23Met
XM_011523260.1:c.653C>T XP_011521562.1:p.Thr218Met
XM_011523261.1:c.653C>T XP_011521563.1:p.Thr218Met
XR_429725.2:n.743C>T
XR_429726.2:n.743C>T
XR_933387.1:n.743C>T
XM_005256084.4:c.653C>T XP_005256141.1:p.Thr218Met
XM_006721242.4:c.653C>T XP_006721305.1:p.Thr218Met
XM_006721243.4:c.653C>T XP_006721306.1:p.Thr218Met
XM_011523259.2:c.68C>T XP_011521561.1:p.Thr23Met
XM_011523260.3:c.653C>T XP_011521562.1:p.Thr218Met
XM_011523261.2:c.653C>T XP_011521563.1:p.Thr218Met
XM_017023535.1:c.161C>T XP_016879024.1:p.Thr54Met
XM_017023536.1:c.68C>T XP_016879025.1:p.Thr23Met
XM_017023537.1:c.68C>T XP_016879026.1:p.Thr23Met
XM_017023538.1:c.68C>T XP_016879027.1:p.Thr23Met
XR_429725.3:n.696C>T
XR_429726.3:n.696C>T
XR_933387.2:n.696C>T
NM_001293557.2:c.653C>T NP_001280486.1:p.Thr218Met
NM_001370466.1:c.653C>T MANE Select NP_001357395.1:p.Thr218Met
NM_022162.3:c.734C>T NP_071445.1:p.Thr245Met
NR_163434.1:n.718C>T