Canonical Allele Identifier: CA2806997784
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699789_50699790insAACACCCAAACACACCCAACA , CM000678.2:g.50699789_50699790insAACACCCAAACACACCCAACA GRCh38
NC_000016.9:g.50733700_50733701insAACACCCAAACACACCCAACA , CM000678.1:g.50733700_50733701insAACACCCAAACACACCCAACA GRCh37
NC_000016.8:g.49291201_49291202insAACACCCAAACACACCCAACA NCBI36
NG_007508.1:g.7651_7652insAACACCCAAACACACCCAACA , LRG_177:g.7651_7652insAACACCCAAACACACCCAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.294_295insAACACCCAAACACACCCAACA ENSP00000493088.1:p.Pro98_His99insAsnThrGlnThrHisProThr
ENST00000646677.2:c.294_295insAACACCCAAACACACCCAACA ENSP00000496533.1:p.Pro98_His99insAsnThrGlnThrHisProThr
ENST00000641284.1:c.294_295insAACACCCAAACACACCCAACA ENSP00000493088.1:p.Pro98_His99insAsnThrGlnThrHisProThr
ENST00000646677.1:c.294_295insAACACCCAAACACACCCAACA ENSP00000496533.1:p.Pro98_His99insAsnThrGlnThrHisProThr
ENST00000647318.2:c.294_295insAACACCCAAACACACCCAACA MANE Select ENSP00000495993.1:p.Pro98_His99insAsnThrGlnThrHisProThr
ENST00000300589.6:c.375_376insAACACCCAAACACACCCAACA ENSP00000300589.2:p.Pro125_His126insAsnThrGlnThrHisProThr
ENST00000526417.6:n.362_363insAACACCCAAACACACCCAACA
ENST00000527070.5:c.*990_*991insAACACCCAAACACACCCAACA ENSP00000435149.1:n.*990_*991insAACACCCAAACACACCCAACA
ENST00000531674.1:c.294_295insAACACCCAAACACACCCAACA ENSP00000431681.1:p.Pro98_His99insAsnThrGlnThrHisProThr
ENST00000532206.1:n.479_480insAACACCCAAACACACCCAACA
NM_001293557.1:c.294_295insAACACCCAAACACACCCAACA NP_001280486.1:p.Pro98_His99insAsnThrGlnThrHisProThr
NM_022162.2:c.375_376insAACACCCAAACACACCCAACA NP_071445.1:p.Pro125_His126insAsnThrGlnThrHisProThr
XM_005256084.2:c.294_295insAACACCCAAACACACCCAACA XP_005256141.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_006721242.2:c.294_295insAACACCCAAACACACCCAACA XP_006721305.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_006721243.2:c.294_295insAACACCCAAACACACCCAACA XP_006721306.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_011523258.1:c.-38+6127_-38+6128insAACACCCAAACACACCCAACA XP_011521560.1:n.-38+6127_-38+6128insAACACCCAAACACACCCAACA
XM_011523259.1:c.-186_-185insAACACCCAAACACACCCAACA XP_011521561.1:n.-186_-185insAACACCCAAACACACCCAACA
XM_011523260.1:c.294_295insAACACCCAAACACACCCAACA XP_011521562.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_011523261.1:c.294_295insAACACCCAAACACACCCAACA XP_011521563.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XR_429725.2:n.384_385insAACACCCAAACACACCCAACA
XR_429726.2:n.384_385insAACACCCAAACACACCCAACA
XR_933387.1:n.384_385insAACACCCAAACACACCCAACA
XM_005256084.4:c.294_295insAACACCCAAACACACCCAACA XP_005256141.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_006721242.4:c.294_295insAACACCCAAACACACCCAACA XP_006721305.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_006721243.4:c.294_295insAACACCCAAACACACCCAACA XP_006721306.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_011523259.2:c.-186_-185insAACACCCAAACACACCCAACA XP_011521561.1:n.-186_-185insAACACCCAAACACACCCAACA
XM_011523260.3:c.294_295insAACACCCAAACACACCCAACA XP_011521562.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_011523261.2:c.294_295insAACACCCAAACACACCCAACA XP_011521563.1:p.Pro98_His99insAsnThrGlnThrHisProThr
XM_017023536.1:c.-127+6127_-127+6128insAACACCCAAACACACCCAACA XP_016879025.1:n.-127+6127_-127+6128insAACACCCAAACACACCCAACA
XM_017023537.1:c.-21+6127_-21+6128insAACACCCAAACACACCCAACA XP_016879026.1:n.-21+6127_-21+6128insAACACCCAAACACACCCAACA
XR_429725.3:n.337_338insAACACCCAAACACACCCAACA
XR_429726.3:n.337_338insAACACCCAAACACACCCAACA
XR_933387.2:n.337_338insAACACCCAAACACACCCAACA
NM_001293557.2:c.294_295insAACACCCAAACACACCCAACA NP_001280486.1:p.Pro98_His99insAsnThrGlnThrHisProThr
NM_001370466.1:c.294_295insAACACCCAAACACACCCAACA MANE Select NP_001357395.1:p.Pro98_His99insAsnThrGlnThrHisProThr
NM_022162.3:c.375_376insAACACCCAAACACACCCAACA NP_071445.1:p.Pro125_His126insAsnThrGlnThrHisProThr
NR_163434.1:n.359_360insAACACCCAAACACACCCAACA