Canonical Allele Identifier: CA2839879030
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50723056T>C , CM000678.2:g.50723056T>C GRCh38
NC_000016.9:g.50756967T>C , CM000678.1:g.50756967T>C GRCh37
NC_000016.8:g.49314468T>C NCBI36
NG_007508.1:g.30918T>C , LRG_177:g.30918T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-6762T>C ENSP00000493088.1:n.2382-6762T>C
ENST00000646677.2:c.*483-245T>C ENSP00000496533.1:n.*483-245T>C
ENST00000697425.1:c.545-245T>C
ENST00000697426.1:c.433-245T>C
ENST00000697427.1:c.349-245T>C
ENST00000697428.1:n.2196-245T>C
ENST00000641284.1:c.2382-6762T>C ENSP00000493088.1:n.2382-6762T>C
ENST00000646677.1:c.*483-245T>C ENSP00000496533.1:n.*483-245T>C
ENST00000647318.2:c.2718-245T>C MANE Select ENSP00000495993.1:n.2718-245T>C
ENST00000300589.6:c.2799-245T>C ENSP00000300589.2:n.2799-245T>C
ENST00000524712.5:c.293-245T>C
ENST00000527052.5:c.265-245T>C
ENST00000529633.5:c.377-245T>C
ENST00000534057.1:c.433-245T>C
ENST00000534067.5:c.529-245T>C
NM_001293557.1:c.2718-245T>C NP_001280486.1:n.2718-245T>C
NM_022162.2:c.2799-245T>C NP_071445.1:n.2799-245T>C
XM_005256084.2:c.2718-245T>C XP_005256141.1:n.2718-245T>C
XM_006721242.2:c.2634-245T>C XP_006721305.1:n.2634-245T>C
XM_011523257.1:c.2295-245T>C XP_011521559.1:n.2295-245T>C
XM_011523258.1:c.2295-245T>C XP_011521560.1:n.2295-245T>C
XM_011523259.1:c.2133-245T>C XP_011521561.1:n.2133-245T>C
XR_429725.2:n.2640-245T>C
XR_429726.2:n.2556-245T>C
XR_933387.1:n.2836-245T>C
XM_005256084.4:c.2718-245T>C XP_005256141.1:n.2718-245T>C
XM_006721242.4:c.2634-245T>C XP_006721305.1:n.2634-245T>C
XM_011523259.2:c.2133-245T>C XP_011521561.1:n.2133-245T>C
XM_017023535.1:c.2226-245T>C XP_016879024.1:n.2226-245T>C
XM_017023536.1:c.2133-245T>C XP_016879025.1:n.2133-245T>C
XM_017023537.1:c.2133-245T>C XP_016879026.1:n.2133-245T>C
XM_017023538.1:c.2133-245T>C XP_016879027.1:n.2133-245T>C
XR_429725.3:n.2593-245T>C
XR_429726.3:n.2509-245T>C
XR_933387.2:n.2789-245T>C
NM_001293557.2:c.2718-245T>C NP_001280486.1:n.2718-245T>C
NM_001370466.1:c.2718-245T>C MANE Select NP_001357395.1:n.2718-245T>C
NM_022162.3:c.2799-245T>C NP_071445.1:n.2799-245T>C
NR_163434.1:n.2930-245T>C