Canonical Allele Identifier: CA2221860185
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710937_50710939delinsACT , CM000678.2:g.50710937_50710939delinsACT GRCh38
NC_000016.9:g.50744848_50744850delinsACT , CM000678.1:g.50744848_50744850delinsACT GRCh37
NC_000016.8:g.49302349_49302351delinsACT NCBI36
NG_007508.1:g.18799_18801delinsACT , LRG_177:g.18799_18801delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.945_947delinsACT ENSP00000493088.1:p.Pro315=
ENST00000646677.2:c.945_947delinsACT ENSP00000496533.1:p.Pro315=
ENST00000641284.1:c.945_947delinsACT ENSP00000493088.1:p.Pro315=
ENST00000646677.1:c.945_947delinsACT ENSP00000496533.1:p.Pro315=
ENST00000647318.2:c.945_947delinsACT MANE Select ENSP00000495993.1:p.Pro315=
ENST00000300589.6:c.1026_1028delinsACT ENSP00000300589.2:p.Pro342=
ENST00000526417.6:n.1086_1088delinsACT
NM_001293557.1:c.945_947delinsACT NP_001280486.1:p.Pro315=
NM_022162.2:c.1026_1028delinsACT NP_071445.1:p.Pro342=
XM_005256084.2:c.945_947delinsACT XP_005256141.1:p.Pro315=
XM_006721242.2:c.945_947delinsACT XP_006721305.1:p.Pro315=
XM_006721243.2:c.945_947delinsACT XP_006721306.1:p.Pro315=
XM_011523257.1:c.522_524delinsACT XP_011521559.1:p.Pro174=
XM_011523258.1:c.522_524delinsACT XP_011521560.1:p.Pro174=
XM_011523259.1:c.360_362delinsACT XP_011521561.1:p.Pro120=
XM_011523260.1:c.945_947delinsACT XP_011521562.1:p.Pro315=
XM_011523261.1:c.945_947delinsACT XP_011521563.1:p.Pro315=
XR_429725.2:n.1035_1037delinsACT
XR_429726.2:n.1035_1037delinsACT
XR_933387.1:n.1035_1037delinsACT
XM_005256084.4:c.945_947delinsACT XP_005256141.1:p.Pro315=
XM_006721242.4:c.945_947delinsACT XP_006721305.1:p.Pro315=
XM_006721243.4:c.945_947delinsACT XP_006721306.1:p.Pro315=
XM_011523259.2:c.360_362delinsACT XP_011521561.1:p.Pro120=
XM_011523260.3:c.945_947delinsACT XP_011521562.1:p.Pro315=
XM_011523261.2:c.945_947delinsACT XP_011521563.1:p.Pro315=
XM_017023535.1:c.453_455delinsACT XP_016879024.1:p.Pro151=
XM_017023536.1:c.360_362delinsACT XP_016879025.1:p.Pro120=
XM_017023537.1:c.360_362delinsACT XP_016879026.1:p.Pro120=
XM_017023538.1:c.360_362delinsACT XP_016879027.1:p.Pro120=
XR_429725.3:n.988_990delinsACT
XR_429726.3:n.988_990delinsACT
XR_933387.2:n.988_990delinsACT
NM_001293557.2:c.945_947delinsACT NP_001280486.1:p.Pro315=
NM_001370466.1:c.945_947delinsACT MANE Select NP_001357395.1:p.Pro315=
NM_022162.3:c.1026_1028delinsACT NP_071445.1:p.Pro342=
NR_163434.1:n.1010_1012delinsACT