Canonical Allele Identifier: CA395875138
Gene: NOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722658G>T , CM000678.2:g.50722658G>T GRCh38
NC_000016.9:g.50756569G>T , CM000678.1:g.50756569G>T GRCh37
NC_000016.8:g.49314070G>T NCBI36
NG_007508.1:g.30520G>T , LRG_177:g.30520G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7160G>T ENSP00000493088.1:n.2382-7160G>T
ENST00000646677.2:c.*435G>T ENSP00000496533.1:n.*435G>T
ENST00000697425.1:c.497G>T
ENST00000697426.1:c.385G>T
ENST00000697427.1:c.301G>T
ENST00000697428.1:n.2148G>T
ENST00000641284.1:c.2382-7160G>T ENSP00000493088.1:n.2382-7160G>T
ENST00000646677.1:c.*435G>T ENSP00000496533.1:n.*435G>T
ENST00000647318.2:c.2670G>T MANE Select ENSP00000495993.1:p.Gln890His
ENST00000300589.6:c.2751G>T ENSP00000300589.2:p.Gln917His
ENST00000524712.5:c.245G>T
ENST00000527052.5:c.217G>T
ENST00000529633.5:c.329G>T
ENST00000534057.1:c.385G>T
ENST00000534067.5:c.481G>T
NM_001293557.1:c.2670G>T NP_001280486.1:p.Gln890His
NM_022162.2:c.2751G>T NP_071445.1:p.Gln917His
XM_005256084.2:c.2670G>T XP_005256141.1:p.Gln890His
XM_006721242.2:c.2586G>T XP_006721305.1:p.Gln862His
XM_011523257.1:c.2247G>T XP_011521559.1:p.Gln749His
XM_011523258.1:c.2247G>T XP_011521560.1:p.Gln749His
XM_011523259.1:c.2085G>T XP_011521561.1:p.Gln695His
XR_429725.2:n.2592G>T
XR_429726.2:n.2508G>T
XR_933387.1:n.2788G>T
XM_005256084.4:c.2670G>T XP_005256141.1:p.Gln890His
XM_006721242.4:c.2586G>T XP_006721305.1:p.Gln862His
XM_011523259.2:c.2085G>T XP_011521561.1:p.Gln695His
XM_017023535.1:c.2178G>T XP_016879024.1:p.Gln726His
XM_017023536.1:c.2085G>T XP_016879025.1:p.Gln695His
XM_017023537.1:c.2085G>T XP_016879026.1:p.Gln695His
XM_017023538.1:c.2085G>T XP_016879027.1:p.Gln695His
XR_429725.3:n.2545G>T
XR_429726.3:n.2461G>T
XR_933387.2:n.2741G>T
NM_001293557.2:c.2670G>T NP_001280486.1:p.Gln890His
NM_001370466.1:c.2670G>T MANE Select NP_001357395.1:p.Gln890His
NM_022162.3:c.2751G>T NP_071445.1:p.Gln917His
NR_163434.1:n.2882G>T