Canonical Allele Identifier: CA281276014
Gene: NOD2 HGNC NCBI

Linked Data

dbSNP Id: rs12920040

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50723024C>T , CM000678.2:g.50723024C>T GRCh38
NC_000016.9:g.50756935C>T , CM000678.1:g.50756935C>T GRCh37
NC_000016.8:g.49314436C>T NCBI36
NG_007508.1:g.30886C>T , LRG_177:g.30886C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.2:c.2382-6794C>T ENSP00000493088.1:n.2382-6794C>T
ENST00000646677.2:c.*483-277C>T ENSP00000496533.1:n.*483-277C>T
ENST00000697425.1:c.545-277C>T
ENST00000697426.1:c.433-277C>T
ENST00000697427.1:c.349-277C>T
ENST00000697428.1:n.2196-277C>T
ENST00000641284.1:c.2382-6794C>T ENSP00000493088.1:n.2382-6794C>T
ENST00000646677.1:c.*483-277C>T ENSP00000496533.1:n.*483-277C>T
ENST00000647318.2:c.2718-277C>T MANE Select ENSP00000495993.1:n.2718-277C>T
ENST00000300589.6:c.2799-277C>T ENSP00000300589.2:n.2799-277C>T
ENST00000524712.5:c.293-277C>T
ENST00000527052.5:c.265-277C>T
ENST00000529633.5:c.377-277C>T
ENST00000534057.1:c.433-277C>T
ENST00000534067.5:c.529-277C>T
NM_001293557.1:c.2718-277C>T NP_001280486.1:n.2718-277C>T
NM_022162.2:c.2799-277C>T NP_071445.1:n.2799-277C>T
XM_005256084.2:c.2718-277C>T XP_005256141.1:n.2718-277C>T
XM_006721242.2:c.2634-277C>T XP_006721305.1:n.2634-277C>T
XM_011523257.1:c.2295-277C>T XP_011521559.1:n.2295-277C>T
XM_011523258.1:c.2295-277C>T XP_011521560.1:n.2295-277C>T
XM_011523259.1:c.2133-277C>T XP_011521561.1:n.2133-277C>T
XR_429725.2:n.2640-277C>T
XR_429726.2:n.2556-277C>T
XR_933387.1:n.2836-277C>T
XM_005256084.4:c.2718-277C>T XP_005256141.1:n.2718-277C>T
XM_006721242.4:c.2634-277C>T XP_006721305.1:n.2634-277C>T
XM_011523259.2:c.2133-277C>T XP_011521561.1:n.2133-277C>T
XM_017023535.1:c.2226-277C>T XP_016879024.1:n.2226-277C>T
XM_017023536.1:c.2133-277C>T XP_016879025.1:n.2133-277C>T
XM_017023537.1:c.2133-277C>T XP_016879026.1:n.2133-277C>T
XM_017023538.1:c.2133-277C>T XP_016879027.1:n.2133-277C>T
XR_429725.3:n.2593-277C>T
XR_429726.3:n.2509-277C>T
XR_933387.2:n.2789-277C>T
NM_001293557.2:c.2718-277C>T NP_001280486.1:n.2718-277C>T
NM_001370466.1:c.2718-277C>T MANE Select NP_001357395.1:n.2718-277C>T
NM_022162.3:c.2799-277C>T NP_071445.1:n.2799-277C>T
NR_163434.1:n.2930-277C>T