Canonical Allele Identifier: CA2221860873
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50711278T= , CM000678.2:g.50711278T= GRCh38
NC_000016.9:g.50745189T= , CM000678.1:g.50745189T= GRCh37
NC_000016.8:g.49302690T= NCBI36
NG_007508.1:g.19140T= , LRG_177:g.19140T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.1286T= ENSP00000493088.1:p.Leu429=
ENST00000646677.2:c.1286T= ENSP00000496533.1:p.Leu429=
ENST00000641284.1:c.1286T= ENSP00000493088.1:p.Leu429=
ENST00000646677.1:c.1286T= ENSP00000496533.1:p.Leu429=
ENST00000647318.2:c.1286T= MANE Select ENSP00000495993.1:p.Leu429=
ENST00000300589.6:c.1367T= ENSP00000300589.2:p.Leu456=
NM_001293557.1:c.1286T= NP_001280486.1:p.Leu429=
NM_022162.2:c.1367T= NP_071445.1:p.Leu456=
XM_005256084.2:c.1286T= XP_005256141.1:p.Leu429=
XM_006721242.2:c.1286T= XP_006721305.1:p.Leu429=
XM_006721243.2:c.1286T= XP_006721306.1:p.Leu429=
XM_011523257.1:c.863T= XP_011521559.1:p.Leu288=
XM_011523258.1:c.863T= XP_011521560.1:p.Leu288=
XM_011523259.1:c.701T= XP_011521561.1:p.Leu234=
XM_011523260.1:c.1286T= XP_011521562.1:p.Leu429=
XM_011523261.1:c.1286T= XP_011521563.1:p.Leu429=
XR_429725.2:n.1376T=
XR_429726.2:n.1376T=
XR_933387.1:n.1376T=
XM_005256084.4:c.1286T= XP_005256141.1:p.Leu429=
XM_006721242.4:c.1286T= XP_006721305.1:p.Leu429=
XM_006721243.4:c.1286T= XP_006721306.1:p.Leu429=
XM_011523259.2:c.701T= XP_011521561.1:p.Leu234=
XM_011523260.3:c.1286T= XP_011521562.1:p.Leu429=
XM_011523261.2:c.1286T= XP_011521563.1:p.Leu429=
XM_017023535.1:c.794T= XP_016879024.1:p.Leu265=
XM_017023536.1:c.701T= XP_016879025.1:p.Leu234=
XM_017023537.1:c.701T= XP_016879026.1:p.Leu234=
XM_017023538.1:c.701T= XP_016879027.1:p.Leu234=
XR_429725.3:n.1329T=
XR_429726.3:n.1329T=
XR_933387.2:n.1329T=
NM_001293557.2:c.1286T= NP_001280486.1:p.Leu429=
NM_001370466.1:c.1286T= MANE Select NP_001357395.1:p.Leu429=
NM_022162.3:c.1367T= NP_071445.1:p.Leu456=
NR_163434.1:n.1351T=