Canonical Allele Identifier: CA2807002772
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50723079_50723084del , CM000678.2:g.50723079_50723084del GRCh38
NC_000016.9:g.50756990_50756995del , CM000678.1:g.50756990_50756995del GRCh37
NC_000016.8:g.49314491_49314496del NCBI36
NG_007508.1:g.30941_30946del , LRG_177:g.30941_30946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-6739_2382-6734del ENSP00000493088.1:n.2382-6739_2382-6734del
ENST00000646677.2:c.*483-222_*483-217del ENSP00000496533.1:n.*483-222_*483-217del
ENST00000697425.1:c.545-222_545-217del
ENST00000697426.1:c.433-222_433-217del
ENST00000697427.1:c.349-222_349-217del
ENST00000697428.1:n.2196-222_2196-217del
ENST00000641284.1:c.2382-6739_2382-6734del ENSP00000493088.1:n.2382-6739_2382-6734del
ENST00000646677.1:c.*483-222_*483-217del ENSP00000496533.1:n.*483-222_*483-217del
ENST00000647318.2:c.2718-222_2718-217del MANE Select ENSP00000495993.1:n.2718-222_2718-217del
ENST00000300589.6:c.2799-222_2799-217del ENSP00000300589.2:n.2799-222_2799-217del
ENST00000524712.5:c.293-222_293-217del
ENST00000527052.5:c.265-222_265-217del
ENST00000529633.5:c.377-222_377-217del
ENST00000534057.1:c.433-222_433-217del
ENST00000534067.5:c.529-222_529-217del
NM_001293557.1:c.2718-222_2718-217del NP_001280486.1:n.2718-222_2718-217del
NM_022162.2:c.2799-222_2799-217del NP_071445.1:n.2799-222_2799-217del
XM_005256084.2:c.2718-222_2718-217del XP_005256141.1:n.2718-222_2718-217del
XM_006721242.2:c.2634-222_2634-217del XP_006721305.1:n.2634-222_2634-217del
XM_011523257.1:c.2295-222_2295-217del XP_011521559.1:n.2295-222_2295-217del
XM_011523258.1:c.2295-222_2295-217del XP_011521560.1:n.2295-222_2295-217del
XM_011523259.1:c.2133-222_2133-217del XP_011521561.1:n.2133-222_2133-217del
XR_429725.2:n.2640-222_2640-217del
XR_429726.2:n.2556-222_2556-217del
XR_933387.1:n.2836-222_2836-217del
XM_005256084.4:c.2718-222_2718-217del XP_005256141.1:n.2718-222_2718-217del
XM_006721242.4:c.2634-222_2634-217del XP_006721305.1:n.2634-222_2634-217del
XM_011523259.2:c.2133-222_2133-217del XP_011521561.1:n.2133-222_2133-217del
XM_017023535.1:c.2226-222_2226-217del XP_016879024.1:n.2226-222_2226-217del
XM_017023536.1:c.2133-222_2133-217del XP_016879025.1:n.2133-222_2133-217del
XM_017023537.1:c.2133-222_2133-217del XP_016879026.1:n.2133-222_2133-217del
XM_017023538.1:c.2133-222_2133-217del XP_016879027.1:n.2133-222_2133-217del
XR_429725.3:n.2593-222_2593-217del
XR_429726.3:n.2509-222_2509-217del
XR_933387.2:n.2789-222_2789-217del
NM_001293557.2:c.2718-222_2718-217del NP_001280486.1:n.2718-222_2718-217del
NM_001370466.1:c.2718-222_2718-217del MANE Select NP_001357395.1:n.2718-222_2718-217del
NM_022162.3:c.2799-222_2799-217del NP_071445.1:n.2799-222_2799-217del
NR_163434.1:n.2930-222_2930-217del