Canonical Allele Identifier: CA395875343
Gene: NOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722705G>C , CM000678.2:g.50722705G>C GRCh38
NC_000016.9:g.50756616G>C , CM000678.1:g.50756616G>C GRCh37
NC_000016.8:g.49314117G>C NCBI36
NG_007508.1:g.30567G>C , LRG_177:g.30567G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7113G>C ENSP00000493088.1:n.2382-7113G>C
ENST00000646677.2:c.*482G>C ENSP00000496533.1:n.*482G>C
ENST00000697425.1:c.544G>C
ENST00000697426.1:c.432G>C
ENST00000697427.1:c.348G>C
ENST00000697428.1:n.2195G>C
ENST00000641284.1:c.2382-7113G>C ENSP00000493088.1:n.2382-7113G>C
ENST00000646677.1:c.*482G>C ENSP00000496533.1:n.*482G>C
ENST00000647318.2:c.2717G>C MANE Select ENSP00000495993.1:p.Ser906Thr
ENST00000300589.6:c.2798G>C ENSP00000300589.2:p.Ser933Thr
ENST00000524712.5:c.292G>C
ENST00000527052.5:c.264G>C
ENST00000529633.5:c.376G>C
ENST00000534057.1:c.432G>C
ENST00000534067.5:c.528G>C
NM_001293557.1:c.2717G>C NP_001280486.1:p.Ser906Thr
NM_022162.2:c.2798G>C NP_071445.1:p.Ser933Thr
XM_005256084.2:c.2717G>C XP_005256141.1:p.Ser906Thr
XM_006721242.2:c.2633G>C XP_006721305.1:p.Ser878Thr
XM_011523257.1:c.2294G>C XP_011521559.1:p.Ser765Thr
XM_011523258.1:c.2294G>C XP_011521560.1:p.Ser765Thr
XM_011523259.1:c.2132G>C XP_011521561.1:p.Ser711Thr
XR_429725.2:n.2639G>C
XR_429726.2:n.2555G>C
XR_933387.1:n.2835G>C
XM_005256084.4:c.2717G>C XP_005256141.1:p.Ser906Thr
XM_006721242.4:c.2633G>C XP_006721305.1:p.Ser878Thr
XM_011523259.2:c.2132G>C XP_011521561.1:p.Ser711Thr
XM_017023535.1:c.2225G>C XP_016879024.1:p.Ser742Thr
XM_017023536.1:c.2132G>C XP_016879025.1:p.Ser711Thr
XM_017023537.1:c.2132G>C XP_016879026.1:p.Ser711Thr
XM_017023538.1:c.2132G>C XP_016879027.1:p.Ser711Thr
XR_429725.3:n.2592G>C
XR_429726.3:n.2508G>C
XR_933387.2:n.2788G>C
NM_001293557.2:c.2717G>C NP_001280486.1:p.Ser906Thr
NM_001370466.1:c.2717G>C MANE Select NP_001357395.1:p.Ser906Thr
NM_022162.3:c.2798G>C NP_071445.1:p.Ser933Thr
NR_163434.1:n.2929G>C