Canonical Allele Identifier: CA2221860790
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50711237C= , CM000678.2:g.50711237C= GRCh38
NC_000016.9:g.50745148C= , CM000678.1:g.50745148C= GRCh37
NC_000016.8:g.49302649C= NCBI36
NG_007508.1:g.19099C= , LRG_177:g.19099C=

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.2:c.1245C= ENSP00000493088.1:p.Phe415=
ENST00000646677.2:c.1245C= ENSP00000496533.1:p.Phe415=
ENST00000641284.1:c.1245C= ENSP00000493088.1:p.Phe415=
ENST00000646677.1:c.1245C= ENSP00000496533.1:p.Phe415=
ENST00000647318.2:c.1245C= MANE Select ENSP00000495993.1:p.Phe415=
ENST00000300589.6:c.1326C= ENSP00000300589.2:p.Phe442=
NM_001293557.1:c.1245C= NP_001280486.1:p.Phe415=
NM_022162.2:c.1326C= NP_071445.1:p.Phe442=
XM_005256084.2:c.1245C= XP_005256141.1:p.Phe415=
XM_006721242.2:c.1245C= XP_006721305.1:p.Phe415=
XM_006721243.2:c.1245C= XP_006721306.1:p.Phe415=
XM_011523257.1:c.822C= XP_011521559.1:p.Phe274=
XM_011523258.1:c.822C= XP_011521560.1:p.Phe274=
XM_011523259.1:c.660C= XP_011521561.1:p.Phe220=
XM_011523260.1:c.1245C= XP_011521562.1:p.Phe415=
XM_011523261.1:c.1245C= XP_011521563.1:p.Phe415=
XR_429725.2:n.1335C=
XR_429726.2:n.1335C=
XR_933387.1:n.1335C=
XM_005256084.4:c.1245C= XP_005256141.1:p.Phe415=
XM_006721242.4:c.1245C= XP_006721305.1:p.Phe415=
XM_006721243.4:c.1245C= XP_006721306.1:p.Phe415=
XM_011523259.2:c.660C= XP_011521561.1:p.Phe220=
XM_011523260.3:c.1245C= XP_011521562.1:p.Phe415=
XM_011523261.2:c.1245C= XP_011521563.1:p.Phe415=
XM_017023535.1:c.753C= XP_016879024.1:p.Phe251=
XM_017023536.1:c.660C= XP_016879025.1:p.Phe220=
XM_017023537.1:c.660C= XP_016879026.1:p.Phe220=
XM_017023538.1:c.660C= XP_016879027.1:p.Phe220=
XR_429725.3:n.1288C=
XR_429726.3:n.1288C=
XR_933387.2:n.1288C=
NM_001293557.2:c.1245C= NP_001280486.1:p.Phe415=
NM_001370466.1:c.1245C= MANE Select NP_001357395.1:p.Phe415=
NM_022162.3:c.1326C= NP_071445.1:p.Phe442=
NR_163434.1:n.1310C=