Canonical Allele Identifier: CA721363865
Gene: NOD2 HGNC NCBI

Linked Data

dbSNP Id: rs2066847

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50729870del , CM000678.2:g.50729870del GRCh38
NC_000016.9:g.50763781del , CM000678.1:g.50763781del GRCh37
NC_000016.8:g.49321282del NCBI36
NG_007508.1:g.37732del , LRG_177:g.37732del

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.1:c.*52del ENSP00000493088.1:n.*52del
ENST00000646677.1:c.*703del ENSP00000496533.1:n.*703del
ENST00000647318.2:c.2938del MANE Select ENSP00000495993.1:p.Glu981LysfsTer18
ENST00000300589.6:c.3019del ENSP00000300589.2:p.Glu1008LysfsTer18
NM_001293557.1:c.2938del NP_001280486.1:p.Glu981LysfsTer18
NM_022162.2:c.3019del NP_071445.1:p.Glu1008LysfsTer18
XM_005256084.2:c.2938del XP_005256141.1:p.Glu981LysfsTer18
XM_006721242.2:c.2854del XP_006721305.1:p.Glu953LysfsTer18
XM_011523257.1:c.2515del XP_011521559.1:p.Glu840LysfsTer18
XM_011523258.1:c.2515del XP_011521560.1:p.Glu840LysfsTer18
XM_011523259.1:c.2353del XP_011521561.1:p.Glu786LysfsTer18
XM_005256084.4:c.2938del XP_005256141.1:p.Glu981LysfsTer18
XM_006721242.4:c.2854del XP_006721305.1:p.Glu953LysfsTer18
XM_011523259.2:c.2353del XP_011521561.1:p.Glu786LysfsTer18
XM_017023535.1:c.2446del XP_016879024.1:p.Glu817LysfsTer18
XM_017023536.1:c.2353del XP_016879025.1:p.Glu786LysfsTer18
XM_017023537.1:c.2353del XP_016879026.1:p.Glu786LysfsTer18
XM_017023538.1:c.2353del XP_016879027.1:p.Glu786LysfsTer18
NM_001293557.2:c.2938del NP_001280486.1:p.Glu981LysfsTer18
NM_001370466.1:c.2938del MANE Select NP_001357395.1:p.Glu981LysfsTer18
NM_022162.3:c.3019del NP_071445.1:p.Glu1008LysfsTer18
NR_163434.1:n.3150del