Canonical Allele Identifier: CA2221861254
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50711410T= , CM000678.2:g.50711410T= GRCh38
NC_000016.9:g.50745321T= , CM000678.1:g.50745321T= GRCh37
NC_000016.8:g.49302822T= NCBI36
NG_007508.1:g.19272T= , LRG_177:g.19272T=

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.2:c.1418T= ENSP00000493088.1:p.Leu473=
ENST00000646677.2:c.1418T= ENSP00000496533.1:p.Leu473=
ENST00000641284.1:c.1418T= ENSP00000493088.1:p.Leu473=
ENST00000646677.1:c.1418T= ENSP00000496533.1:p.Leu473=
ENST00000647318.2:c.1418T= MANE Select ENSP00000495993.1:p.Leu473=
ENST00000300589.6:c.1499T= ENSP00000300589.2:p.Leu500=
NM_001293557.1:c.1418T= NP_001280486.1:p.Leu473=
NM_022162.2:c.1499T= NP_071445.1:p.Leu500=
XM_005256084.2:c.1418T= XP_005256141.1:p.Leu473=
XM_006721242.2:c.1418T= XP_006721305.1:p.Leu473=
XM_006721243.2:c.1418T= XP_006721306.1:p.Leu473=
XM_011523257.1:c.995T= XP_011521559.1:p.Leu332=
XM_011523258.1:c.995T= XP_011521560.1:p.Leu332=
XM_011523259.1:c.833T= XP_011521561.1:p.Leu278=
XM_011523260.1:c.1418T= XP_011521562.1:p.Leu473=
XM_011523261.1:c.1418T= XP_011521563.1:p.Leu473=
XR_429725.2:n.1508T=
XR_429726.2:n.1508T=
XR_933387.1:n.1508T=
XM_005256084.4:c.1418T= XP_005256141.1:p.Leu473=
XM_006721242.4:c.1418T= XP_006721305.1:p.Leu473=
XM_006721243.4:c.1418T= XP_006721306.1:p.Leu473=
XM_011523259.2:c.833T= XP_011521561.1:p.Leu278=
XM_011523260.3:c.1418T= XP_011521562.1:p.Leu473=
XM_011523261.2:c.1418T= XP_011521563.1:p.Leu473=
XM_017023535.1:c.926T= XP_016879024.1:p.Leu309=
XM_017023536.1:c.833T= XP_016879025.1:p.Leu278=
XM_017023537.1:c.833T= XP_016879026.1:p.Leu278=
XM_017023538.1:c.833T= XP_016879027.1:p.Leu278=
XR_429725.3:n.1461T=
XR_429726.3:n.1461T=
XR_933387.2:n.1461T=
NM_001293557.2:c.1418T= NP_001280486.1:p.Leu473=
NM_001370466.1:c.1418T= MANE Select NP_001357395.1:p.Leu473=
NM_022162.3:c.1499T= NP_071445.1:p.Leu500=
NR_163434.1:n.1483T=