Canonical Allele Identifier: CA2575991516
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50723252_50723253del , CM000678.2:g.50723252_50723253del GRCh38
NC_000016.9:g.50757163_50757164del , CM000678.1:g.50757163_50757164del GRCh37
NC_000016.8:g.49314664_49314665del NCBI36
NG_007508.1:g.31114_31115del , LRG_177:g.31114_31115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-6566_2382-6565del ENSP00000493088.1:n.2382-6566_2382-6565del
ENST00000646677.2:c.*483-49_*483-48del ENSP00000496533.1:n.*483-49_*483-48del
ENST00000697425.1:c.545-49_545-48del
ENST00000697426.1:c.433-49_433-48del
ENST00000697427.1:c.349-49_349-48del
ENST00000697428.1:n.2196-49_2196-48del
ENST00000641284.1:c.2382-6566_2382-6565del ENSP00000493088.1:n.2382-6566_2382-6565del
ENST00000646677.1:c.*483-49_*483-48del ENSP00000496533.1:n.*483-49_*483-48del
ENST00000647318.2:c.2718-49_2718-48del MANE Select ENSP00000495993.1:n.2718-49_2718-48del
ENST00000300589.6:c.2799-49_2799-48del ENSP00000300589.2:n.2799-49_2799-48del
ENST00000524712.5:c.293-49_293-48del
ENST00000527052.5:c.265-49_265-48del
ENST00000529633.5:c.377-49_377-48del
ENST00000534057.1:c.433-49_433-48del
ENST00000534067.5:c.529-49_529-48del
NM_001293557.1:c.2718-49_2718-48del NP_001280486.1:n.2718-49_2718-48del
NM_022162.2:c.2799-49_2799-48del NP_071445.1:n.2799-49_2799-48del
XM_005256084.2:c.2718-49_2718-48del XP_005256141.1:n.2718-49_2718-48del
XM_006721242.2:c.2634-49_2634-48del XP_006721305.1:n.2634-49_2634-48del
XM_011523257.1:c.2295-49_2295-48del XP_011521559.1:n.2295-49_2295-48del
XM_011523258.1:c.2295-49_2295-48del XP_011521560.1:n.2295-49_2295-48del
XM_011523259.1:c.2133-49_2133-48del XP_011521561.1:n.2133-49_2133-48del
XR_429725.2:n.2640-49_2640-48del
XR_429726.2:n.2556-49_2556-48del
XR_933387.1:n.2836-49_2836-48del
XM_005256084.4:c.2718-49_2718-48del XP_005256141.1:n.2718-49_2718-48del
XM_006721242.4:c.2634-49_2634-48del XP_006721305.1:n.2634-49_2634-48del
XM_011523259.2:c.2133-49_2133-48del XP_011521561.1:n.2133-49_2133-48del
XM_017023535.1:c.2226-49_2226-48del XP_016879024.1:n.2226-49_2226-48del
XM_017023536.1:c.2133-49_2133-48del XP_016879025.1:n.2133-49_2133-48del
XM_017023537.1:c.2133-49_2133-48del XP_016879026.1:n.2133-49_2133-48del
XM_017023538.1:c.2133-49_2133-48del XP_016879027.1:n.2133-49_2133-48del
XR_429725.3:n.2593-49_2593-48del
XR_429726.3:n.2509-49_2509-48del
XR_933387.2:n.2789-49_2789-48del
NM_001293557.2:c.2718-49_2718-48del NP_001280486.1:n.2718-49_2718-48del
NM_001370466.1:c.2718-49_2718-48del MANE Select NP_001357395.1:n.2718-49_2718-48del
NM_022162.3:c.2799-49_2799-48del NP_071445.1:n.2799-49_2799-48del
NR_163434.1:n.2930-49_2930-48del