Canonical Allele Identifier: CA395875301
Gene: NOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722697G>C , CM000678.2:g.50722697G>C GRCh38
NC_000016.9:g.50756608G>C , CM000678.1:g.50756608G>C GRCh37
NC_000016.8:g.49314109G>C NCBI36
NG_007508.1:g.30559G>C , LRG_177:g.30559G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7121G>C ENSP00000493088.1:n.2382-7121G>C
ENST00000646677.2:c.*474G>C ENSP00000496533.1:n.*474G>C
ENST00000697425.1:c.536G>C
ENST00000697426.1:c.424G>C
ENST00000697427.1:c.340G>C
ENST00000697428.1:n.2187G>C
ENST00000641284.1:c.2382-7121G>C ENSP00000493088.1:n.2382-7121G>C
ENST00000646677.1:c.*474G>C ENSP00000496533.1:n.*474G>C
ENST00000647318.2:c.2709G>C MANE Select ENSP00000495993.1:p.Arg903Ser
ENST00000300589.6:c.2790G>C ENSP00000300589.2:p.Arg930Ser
ENST00000524712.5:c.284G>C
ENST00000527052.5:c.256G>C
ENST00000529633.5:c.368G>C
ENST00000534057.1:c.424G>C
ENST00000534067.5:c.520G>C
NM_001293557.1:c.2709G>C NP_001280486.1:p.Arg903Ser
NM_022162.2:c.2790G>C NP_071445.1:p.Arg930Ser
XM_005256084.2:c.2709G>C XP_005256141.1:p.Arg903Ser
XM_006721242.2:c.2625G>C XP_006721305.1:p.Arg875Ser
XM_011523257.1:c.2286G>C XP_011521559.1:p.Arg762Ser
XM_011523258.1:c.2286G>C XP_011521560.1:p.Arg762Ser
XM_011523259.1:c.2124G>C XP_011521561.1:p.Arg708Ser
XR_429725.2:n.2631G>C
XR_429726.2:n.2547G>C
XR_933387.1:n.2827G>C
XM_005256084.4:c.2709G>C XP_005256141.1:p.Arg903Ser
XM_006721242.4:c.2625G>C XP_006721305.1:p.Arg875Ser
XM_011523259.2:c.2124G>C XP_011521561.1:p.Arg708Ser
XM_017023535.1:c.2217G>C XP_016879024.1:p.Arg739Ser
XM_017023536.1:c.2124G>C XP_016879025.1:p.Arg708Ser
XM_017023537.1:c.2124G>C XP_016879026.1:p.Arg708Ser
XM_017023538.1:c.2124G>C XP_016879027.1:p.Arg708Ser
XR_429725.3:n.2584G>C
XR_429726.3:n.2500G>C
XR_933387.2:n.2780G>C
NM_001293557.2:c.2709G>C NP_001280486.1:p.Arg903Ser
NM_001370466.1:c.2709G>C MANE Select NP_001357395.1:p.Arg903Ser
NM_022162.3:c.2790G>C NP_071445.1:p.Arg930Ser
NR_163434.1:n.2921G>C