Canonical Allele Identifier: CA2221842541
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50723082_50723085delinsAGCT , CM000678.2:g.50723082_50723085delinsAGCT GRCh38
NC_000016.9:g.50756993_50756996delinsAGCT , CM000678.1:g.50756993_50756996delinsAGCT GRCh37
NC_000016.8:g.49314494_49314497delinsAGCT NCBI36
NG_007508.1:g.30944_30947delinsAGCT , LRG_177:g.30944_30947delinsAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-6736_2382-6733delinsAGCT ENSP00000493088.1:n.2382-6736_2382-6733delinsAGCT
ENST00000646677.2:c.*483-219_*483-216delinsAGCT ENSP00000496533.1:n.*483-219_*483-216delinsAGCT
ENST00000697425.1:c.545-219_545-216delinsAGCT
ENST00000697426.1:c.433-219_433-216delinsAGCT
ENST00000697427.1:c.349-219_349-216delinsAGCT
ENST00000697428.1:n.2196-219_2196-216delinsAGCT
ENST00000641284.1:c.2382-6736_2382-6733delinsAGCT ENSP00000493088.1:n.2382-6736_2382-6733delinsAGCT
ENST00000646677.1:c.*483-219_*483-216delinsAGCT ENSP00000496533.1:n.*483-219_*483-216delinsAGCT
ENST00000647318.2:c.2718-219_2718-216delinsAGCT MANE Select ENSP00000495993.1:n.2718-219_2718-216delinsAGCT
ENST00000300589.6:c.2799-219_2799-216delinsAGCT ENSP00000300589.2:n.2799-219_2799-216delinsAGCT
ENST00000524712.5:c.293-219_293-216delinsAGCT
ENST00000527052.5:c.265-219_265-216delinsAGCT
ENST00000529633.5:c.377-219_377-216delinsAGCT
ENST00000534057.1:c.433-219_433-216delinsAGCT
ENST00000534067.5:c.529-219_529-216delinsAGCT
NM_001293557.1:c.2718-219_2718-216delinsAGCT NP_001280486.1:n.2718-219_2718-216delinsAGCT
NM_022162.2:c.2799-219_2799-216delinsAGCT NP_071445.1:n.2799-219_2799-216delinsAGCT
XM_005256084.2:c.2718-219_2718-216delinsAGCT XP_005256141.1:n.2718-219_2718-216delinsAGCT
XM_006721242.2:c.2634-219_2634-216delinsAGCT XP_006721305.1:n.2634-219_2634-216delinsAGCT
XM_011523257.1:c.2295-219_2295-216delinsAGCT XP_011521559.1:n.2295-219_2295-216delinsAGCT
XM_011523258.1:c.2295-219_2295-216delinsAGCT XP_011521560.1:n.2295-219_2295-216delinsAGCT
XM_011523259.1:c.2133-219_2133-216delinsAGCT XP_011521561.1:n.2133-219_2133-216delinsAGCT
XR_429725.2:n.2640-219_2640-216delinsAGCT
XR_429726.2:n.2556-219_2556-216delinsAGCT
XR_933387.1:n.2836-219_2836-216delinsAGCT
XM_005256084.4:c.2718-219_2718-216delinsAGCT XP_005256141.1:n.2718-219_2718-216delinsAGCT
XM_006721242.4:c.2634-219_2634-216delinsAGCT XP_006721305.1:n.2634-219_2634-216delinsAGCT
XM_011523259.2:c.2133-219_2133-216delinsAGCT XP_011521561.1:n.2133-219_2133-216delinsAGCT
XM_017023535.1:c.2226-219_2226-216delinsAGCT XP_016879024.1:n.2226-219_2226-216delinsAGCT
XM_017023536.1:c.2133-219_2133-216delinsAGCT XP_016879025.1:n.2133-219_2133-216delinsAGCT
XM_017023537.1:c.2133-219_2133-216delinsAGCT XP_016879026.1:n.2133-219_2133-216delinsAGCT
XM_017023538.1:c.2133-219_2133-216delinsAGCT XP_016879027.1:n.2133-219_2133-216delinsAGCT
XR_429725.3:n.2593-219_2593-216delinsAGCT
XR_429726.3:n.2509-219_2509-216delinsAGCT
XR_933387.2:n.2789-219_2789-216delinsAGCT
NM_001293557.2:c.2718-219_2718-216delinsAGCT NP_001280486.1:n.2718-219_2718-216delinsAGCT
NM_001370466.1:c.2718-219_2718-216delinsAGCT MANE Select NP_001357395.1:n.2718-219_2718-216delinsAGCT
NM_022162.3:c.2799-219_2799-216delinsAGCT NP_071445.1:n.2799-219_2799-216delinsAGCT
NR_163434.1:n.2930-219_2930-216delinsAGCT