Canonical Allele Identifier: CA395875184
Gene: NOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722671G>T , CM000678.2:g.50722671G>T GRCh38
NC_000016.9:g.50756582G>T , CM000678.1:g.50756582G>T GRCh37
NC_000016.8:g.49314083G>T NCBI36
NG_007508.1:g.30533G>T , LRG_177:g.30533G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7147G>T ENSP00000493088.1:n.2382-7147G>T
ENST00000646677.2:c.*448G>T ENSP00000496533.1:n.*448G>T
ENST00000697425.1:c.510G>T
ENST00000697426.1:c.398G>T
ENST00000697427.1:c.314G>T
ENST00000697428.1:n.2161G>T
ENST00000641284.1:c.2382-7147G>T ENSP00000493088.1:n.2382-7147G>T
ENST00000646677.1:c.*448G>T ENSP00000496533.1:n.*448G>T
ENST00000647318.2:c.2683G>T MANE Select ENSP00000495993.1:p.Ala895Ser
ENST00000300589.6:c.2764G>T ENSP00000300589.2:p.Ala922Ser
ENST00000524712.5:c.258G>T
ENST00000527052.5:c.230G>T
ENST00000529633.5:c.342G>T
ENST00000534057.1:c.398G>T
ENST00000534067.5:c.494G>T
NM_001293557.1:c.2683G>T NP_001280486.1:p.Ala895Ser
NM_022162.2:c.2764G>T NP_071445.1:p.Ala922Ser
XM_005256084.2:c.2683G>T XP_005256141.1:p.Ala895Ser
XM_006721242.2:c.2599G>T XP_006721305.1:p.Ala867Ser
XM_011523257.1:c.2260G>T XP_011521559.1:p.Ala754Ser
XM_011523258.1:c.2260G>T XP_011521560.1:p.Ala754Ser
XM_011523259.1:c.2098G>T XP_011521561.1:p.Ala700Ser
XR_429725.2:n.2605G>T
XR_429726.2:n.2521G>T
XR_933387.1:n.2801G>T
XM_005256084.4:c.2683G>T XP_005256141.1:p.Ala895Ser
XM_006721242.4:c.2599G>T XP_006721305.1:p.Ala867Ser
XM_011523259.2:c.2098G>T XP_011521561.1:p.Ala700Ser
XM_017023535.1:c.2191G>T XP_016879024.1:p.Ala731Ser
XM_017023536.1:c.2098G>T XP_016879025.1:p.Ala700Ser
XM_017023537.1:c.2098G>T XP_016879026.1:p.Ala700Ser
XM_017023538.1:c.2098G>T XP_016879027.1:p.Ala700Ser
XR_429725.3:n.2558G>T
XR_429726.3:n.2474G>T
XR_933387.2:n.2754G>T
NM_001293557.2:c.2683G>T NP_001280486.1:p.Ala895Ser
NM_001370466.1:c.2683G>T MANE Select NP_001357395.1:p.Ala895Ser
NM_022162.3:c.2764G>T NP_071445.1:p.Ala922Ser
NR_163434.1:n.2895G>T