Canonical Allele Identifier: CA395875294
Gene: NOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722695A>T , CM000678.2:g.50722695A>T GRCh38
NC_000016.9:g.50756606A>T , CM000678.1:g.50756606A>T GRCh37
NC_000016.8:g.49314107A>T NCBI36
NG_007508.1:g.30557A>T , LRG_177:g.30557A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.2382-7123A>T ENSP00000493088.1:n.2382-7123A>T
ENST00000646677.2:c.*472A>T ENSP00000496533.1:n.*472A>T
ENST00000697425.1:c.534A>T
ENST00000697426.1:c.422A>T
ENST00000697427.1:c.338A>T
ENST00000697428.1:n.2185A>T
ENST00000641284.1:c.2382-7123A>T ENSP00000493088.1:n.2382-7123A>T
ENST00000646677.1:c.*472A>T ENSP00000496533.1:n.*472A>T
ENST00000647318.2:c.2707A>T MANE Select ENSP00000495993.1:p.Arg903Trp
ENST00000300589.6:c.2788A>T ENSP00000300589.2:p.Arg930Trp
ENST00000524712.5:c.282A>T
ENST00000527052.5:c.254A>T
ENST00000529633.5:c.366A>T
ENST00000534057.1:c.422A>T
ENST00000534067.5:c.518A>T
NM_001293557.1:c.2707A>T NP_001280486.1:p.Arg903Trp
NM_022162.2:c.2788A>T NP_071445.1:p.Arg930Trp
XM_005256084.2:c.2707A>T XP_005256141.1:p.Arg903Trp
XM_006721242.2:c.2623A>T XP_006721305.1:p.Arg875Trp
XM_011523257.1:c.2284A>T XP_011521559.1:p.Arg762Trp
XM_011523258.1:c.2284A>T XP_011521560.1:p.Arg762Trp
XM_011523259.1:c.2122A>T XP_011521561.1:p.Arg708Trp
XR_429725.2:n.2629A>T
XR_429726.2:n.2545A>T
XR_933387.1:n.2825A>T
XM_005256084.4:c.2707A>T XP_005256141.1:p.Arg903Trp
XM_006721242.4:c.2623A>T XP_006721305.1:p.Arg875Trp
XM_011523259.2:c.2122A>T XP_011521561.1:p.Arg708Trp
XM_017023535.1:c.2215A>T XP_016879024.1:p.Arg739Trp
XM_017023536.1:c.2122A>T XP_016879025.1:p.Arg708Trp
XM_017023537.1:c.2122A>T XP_016879026.1:p.Arg708Trp
XM_017023538.1:c.2122A>T XP_016879027.1:p.Arg708Trp
XR_429725.3:n.2582A>T
XR_429726.3:n.2498A>T
XR_933387.2:n.2778A>T
NM_001293557.2:c.2707A>T NP_001280486.1:p.Arg903Trp
NM_001370466.1:c.2707A>T MANE Select NP_001357395.1:p.Arg903Trp
NM_022162.3:c.2788A>T NP_071445.1:p.Arg930Trp
NR_163434.1:n.2919A>T