Canonical Allele Identifier: CA2221834886
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699725T= , CM000678.2:g.50699725T= GRCh38
NC_000016.9:g.50733636T= , CM000678.1:g.50733636T= GRCh37
NC_000016.8:g.49291137T= NCBI36
NG_007508.1:g.7587T= , LRG_177:g.7587T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.230T= ENSP00000493088.1:p.Ile77=
ENST00000646677.2:c.230T= ENSP00000496533.1:p.Ile77=
ENST00000641284.1:c.230T= ENSP00000493088.1:p.Ile77=
ENST00000646677.1:c.230T= ENSP00000496533.1:p.Ile77=
ENST00000647318.2:c.230T= MANE Select ENSP00000495993.1:p.Ile77=
ENST00000300589.6:c.311T= ENSP00000300589.2:p.Ile104=
ENST00000526417.6:n.298T=
ENST00000527070.5:c.*926T= ENSP00000435149.1:n.*926T=
ENST00000531674.1:c.230T= ENSP00000431681.1:p.Ile77=
ENST00000532206.1:n.415T=
NM_001293557.1:c.230T= NP_001280486.1:p.Ile77=
NM_022162.2:c.311T= NP_071445.1:p.Ile104=
XM_005256084.2:c.230T= XP_005256141.1:p.Ile77=
XM_006721242.2:c.230T= XP_006721305.1:p.Ile77=
XM_006721243.2:c.230T= XP_006721306.1:p.Ile77=
XM_011523258.1:c.-38+6063T= XP_011521560.1:n.-38+6063T=
XM_011523259.1:c.-250T= XP_011521561.1:n.-250T=
XM_011523260.1:c.230T= XP_011521562.1:p.Ile77=
XM_011523261.1:c.230T= XP_011521563.1:p.Ile77=
XR_429725.2:n.320T=
XR_429726.2:n.320T=
XR_933387.1:n.320T=
XM_005256084.4:c.230T= XP_005256141.1:p.Ile77=
XM_006721242.4:c.230T= XP_006721305.1:p.Ile77=
XM_006721243.4:c.230T= XP_006721306.1:p.Ile77=
XM_011523259.2:c.-250T= XP_011521561.1:n.-250T=
XM_011523260.3:c.230T= XP_011521562.1:p.Ile77=
XM_011523261.2:c.230T= XP_011521563.1:p.Ile77=
XM_017023536.1:c.-127+6063T= XP_016879025.1:n.-127+6063T=
XM_017023537.1:c.-21+6063T= XP_016879026.1:n.-21+6063T=
XR_429725.3:n.273T=
XR_429726.3:n.273T=
XR_933387.2:n.273T=
NM_001293557.2:c.230T= NP_001280486.1:p.Ile77=
NM_001370466.1:c.230T= MANE Select NP_001357395.1:p.Ile77=
NM_022162.3:c.311T= NP_071445.1:p.Ile104=
NR_163434.1:n.295T=