Canonical Allele Identifier: CA395868027
Community Standard Title: NM_001370466.1(NOD2):c.923A>G (p.Gln308Arg)
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710915A>G , CM000678.2:g.50710915A>G GRCh38
NC_000016.9:g.50744826A>G , CM000678.1:g.50744826A>G GRCh37
NC_000016.8:g.49302327A>G NCBI36
NG_007508.1:g.18777A>G , LRG_177:g.18777A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001370466.1:c.923A>G MANE Select NP_001357395.1:p.Gln308Arg
ENST00000647318.2:c.923A>G MANE Select ENSP00000495993.1:p.Gln308Arg
NM_001293557.1:c.923A>G NP_001280486.1:p.Gln308Arg
NM_001293557.2:c.923A>G NP_001280486.1:p.Gln308Arg
NM_022162.2:c.1004A>G NP_071445.1:p.Gln335Arg
NM_022162.3:c.1004A>G NP_071445.1:p.Gln335Arg
NR_163434.1:n.988A>G
ENST00000300589.6:c.1004A>G ENSP00000300589.2:p.Gln335Arg
ENST00000526417.6:n.1064A>G
ENST00000641284.1:c.923A>G ENSP00000493088.1:p.Gln308Arg
ENST00000641284.2:c.923A>G ENSP00000493088.1:p.Gln308Arg
ENST00000646677.1:c.923A>G ENSP00000496533.1:p.Gln308Arg
ENST00000646677.2:c.923A>G ENSP00000496533.1:p.Gln308Arg
XM_005256084.2:c.923A>G XP_005256141.1:p.Gln308Arg
XM_005256084.4:c.923A>G XP_005256141.1:p.Gln308Arg
XM_006721242.2:c.923A>G XP_006721305.1:p.Gln308Arg
XM_006721242.4:c.923A>G XP_006721305.1:p.Gln308Arg
XM_006721243.2:c.923A>G XP_006721306.1:p.Gln308Arg
XM_006721243.4:c.923A>G XP_006721306.1:p.Gln308Arg
XM_011523257.1:c.500A>G XP_011521559.1:p.Gln167Arg
XM_011523258.1:c.500A>G XP_011521560.1:p.Gln167Arg
XM_011523259.1:c.338A>G XP_011521561.1:p.Gln113Arg
XM_011523259.2:c.338A>G XP_011521561.1:p.Gln113Arg
XM_011523260.1:c.923A>G XP_011521562.1:p.Gln308Arg
XM_011523260.3:c.923A>G XP_011521562.1:p.Gln308Arg
XM_011523261.1:c.923A>G XP_011521563.1:p.Gln308Arg
XM_011523261.2:c.923A>G XP_011521563.1:p.Gln308Arg
XM_017023535.1:c.431A>G XP_016879024.1:p.Gln144Arg
XM_017023536.1:c.338A>G XP_016879025.1:p.Gln113Arg
XM_017023537.1:c.338A>G XP_016879026.1:p.Gln113Arg
XM_017023538.1:c.338A>G XP_016879027.1:p.Gln113Arg
XR_429725.2:n.1013A>G
XR_429725.3:n.966A>G
XR_429726.2:n.1013A>G
XR_429726.3:n.966A>G
XR_933387.1:n.1013A>G
XR_933387.2:n.966A>G