Canonical Allele Identifier: CA2221835537
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699826_50699827delinsCG , CM000678.2:g.50699826_50699827delinsCG GRCh38
NC_000016.9:g.50733737_50733738delinsCG , CM000678.1:g.50733737_50733738delinsCG GRCh37
NC_000016.8:g.49291238_49291239delinsCG NCBI36
NG_007508.1:g.7688_7689delinsCG , LRG_177:g.7688_7689delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.331_332delinsCG ENSP00000493088.1:p.Arg111=
ENST00000646677.2:c.331_332delinsCG ENSP00000496533.1:p.Arg111=
ENST00000641284.1:c.331_332delinsCG ENSP00000493088.1:p.Arg111=
ENST00000646677.1:c.331_332delinsCG ENSP00000496533.1:p.Arg111=
ENST00000647318.2:c.331_332delinsCG MANE Select ENSP00000495993.1:p.Arg111=
ENST00000300589.6:c.412_413delinsCG ENSP00000300589.2:p.Arg138=
ENST00000526417.6:n.399_400delinsCG
ENST00000527070.5:c.*1027_*1028delinsCG ENSP00000435149.1:n.*1027_*1028delinsCG
ENST00000531674.1:c.331_332delinsCG ENSP00000431681.1:p.Arg111=
ENST00000532206.1:n.516_517delinsCG
NM_001293557.1:c.331_332delinsCG NP_001280486.1:p.Arg111=
NM_022162.2:c.412_413delinsCG NP_071445.1:p.Arg138=
XM_005256084.2:c.331_332delinsCG XP_005256141.1:p.Arg111=
XM_006721242.2:c.331_332delinsCG XP_006721305.1:p.Arg111=
XM_006721243.2:c.331_332delinsCG XP_006721306.1:p.Arg111=
XM_011523258.1:c.-38+6164_-38+6165delinsCG XP_011521560.1:n.-38+6164_-38+6165delinsCG
XM_011523259.1:c.-149_-148delinsCG XP_011521561.1:n.-149_-148delinsCG
XM_011523260.1:c.331_332delinsCG XP_011521562.1:p.Arg111=
XM_011523261.1:c.331_332delinsCG XP_011521563.1:p.Arg111=
XR_429725.2:n.421_422delinsCG
XR_429726.2:n.421_422delinsCG
XR_933387.1:n.421_422delinsCG
XM_005256084.4:c.331_332delinsCG XP_005256141.1:p.Arg111=
XM_006721242.4:c.331_332delinsCG XP_006721305.1:p.Arg111=
XM_006721243.4:c.331_332delinsCG XP_006721306.1:p.Arg111=
XM_011523259.2:c.-149_-148delinsCG XP_011521561.1:n.-149_-148delinsCG
XM_011523260.3:c.331_332delinsCG XP_011521562.1:p.Arg111=
XM_011523261.2:c.331_332delinsCG XP_011521563.1:p.Arg111=
XM_017023536.1:c.-127+6164_-127+6165delinsCG XP_016879025.1:n.-127+6164_-127+6165delinsCG
XM_017023537.1:c.-21+6164_-21+6165delinsCG XP_016879026.1:n.-21+6164_-21+6165delinsCG
XR_429725.3:n.374_375delinsCG
XR_429726.3:n.374_375delinsCG
XR_933387.2:n.374_375delinsCG
NM_001293557.2:c.331_332delinsCG NP_001280486.1:p.Arg111=
NM_001370466.1:c.331_332delinsCG MANE Select NP_001357395.1:p.Arg111=
NM_022162.3:c.412_413delinsCG NP_071445.1:p.Arg138=
NR_163434.1:n.396_397delinsCG