Canonical Allele Identifier: CA2807002767
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50723061_50723078del , CM000678.2:g.50723061_50723078del GRCh38
NC_000016.9:g.50756972_50756989del , CM000678.1:g.50756972_50756989del GRCh37
NC_000016.8:g.49314473_49314490del NCBI36
NG_007508.1:g.30923_30940del , LRG_177:g.30923_30940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-6757_2382-6740del ENSP00000493088.1:n.2382-6757_2382-6740del
ENST00000646677.2:c.*483-240_*483-223del ENSP00000496533.1:n.*483-240_*483-223del
ENST00000697425.1:c.545-240_545-223del
ENST00000697426.1:c.433-240_433-223del
ENST00000697427.1:c.349-240_349-223del
ENST00000697428.1:n.2196-240_2196-223del
ENST00000641284.1:c.2382-6757_2382-6740del ENSP00000493088.1:n.2382-6757_2382-6740del
ENST00000646677.1:c.*483-240_*483-223del ENSP00000496533.1:n.*483-240_*483-223del
ENST00000647318.2:c.2718-240_2718-223del MANE Select ENSP00000495993.1:n.2718-240_2718-223del
ENST00000300589.6:c.2799-240_2799-223del ENSP00000300589.2:n.2799-240_2799-223del
ENST00000524712.5:c.293-240_293-223del
ENST00000527052.5:c.265-240_265-223del
ENST00000529633.5:c.377-240_377-223del
ENST00000534057.1:c.433-240_433-223del
ENST00000534067.5:c.529-240_529-223del
NM_001293557.1:c.2718-240_2718-223del NP_001280486.1:n.2718-240_2718-223del
NM_022162.2:c.2799-240_2799-223del NP_071445.1:n.2799-240_2799-223del
XM_005256084.2:c.2718-240_2718-223del XP_005256141.1:n.2718-240_2718-223del
XM_006721242.2:c.2634-240_2634-223del XP_006721305.1:n.2634-240_2634-223del
XM_011523257.1:c.2295-240_2295-223del XP_011521559.1:n.2295-240_2295-223del
XM_011523258.1:c.2295-240_2295-223del XP_011521560.1:n.2295-240_2295-223del
XM_011523259.1:c.2133-240_2133-223del XP_011521561.1:n.2133-240_2133-223del
XR_429725.2:n.2640-240_2640-223del
XR_429726.2:n.2556-240_2556-223del
XR_933387.1:n.2836-240_2836-223del
XM_005256084.4:c.2718-240_2718-223del XP_005256141.1:n.2718-240_2718-223del
XM_006721242.4:c.2634-240_2634-223del XP_006721305.1:n.2634-240_2634-223del
XM_011523259.2:c.2133-240_2133-223del XP_011521561.1:n.2133-240_2133-223del
XM_017023535.1:c.2226-240_2226-223del XP_016879024.1:n.2226-240_2226-223del
XM_017023536.1:c.2133-240_2133-223del XP_016879025.1:n.2133-240_2133-223del
XM_017023537.1:c.2133-240_2133-223del XP_016879026.1:n.2133-240_2133-223del
XM_017023538.1:c.2133-240_2133-223del XP_016879027.1:n.2133-240_2133-223del
XR_429725.3:n.2593-240_2593-223del
XR_429726.3:n.2509-240_2509-223del
XR_933387.2:n.2789-240_2789-223del
NM_001293557.2:c.2718-240_2718-223del NP_001280486.1:n.2718-240_2718-223del
NM_001370466.1:c.2718-240_2718-223del MANE Select NP_001357395.1:n.2718-240_2718-223del
NM_022162.3:c.2799-240_2799-223del NP_071445.1:n.2799-240_2799-223del
NR_163434.1:n.2930-240_2930-223del