Canonical Allele Identifier: CA2807002541

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710808_50710809insTT , CM000678.2:g.50710808_50710809insTT	GRCh38
NC_000016.9:g.50744719_50744720insTT , CM000678.1:g.50744719_50744720insTT	GRCh37
NC_000016.8:g.49302220_49302221insTT	NCBI36
NG_007508.1:g.18670_18671insTT , LRG_177:g.18670_18671insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.816_817insTT	ENSP00000493088.1:p.Glu273LeufsTer?
ENST00000646677.2:c.816_817insTT	ENSP00000496533.1:p.Glu273LeufsTer?
ENST00000641284.1:c.816_817insTT	ENSP00000493088.1:p.Glu273LeufsTer?
ENST00000646677.1:c.816_817insTT	ENSP00000496533.1:p.Glu273LeufsTer?
ENST00000647318.2:c.816_817insTT MANE Select	ENSP00000495993.1:p.Glu273LeufsTer?
ENST00000300589.6:c.897_898insTT	ENSP00000300589.2:p.Glu300LeufsTer?
ENST00000526417.6:n.957_958insTT
NM_001293557.1:c.816_817insTT	NP_001280486.1:p.Glu273LeufsTer?
NM_022162.2:c.897_898insTT	NP_071445.1:p.Glu300LeufsTer?
XM_005256084.2:c.816_817insTT	XP_005256141.1:p.Glu273LeufsTer?
XM_006721242.2:c.816_817insTT	XP_006721305.1:p.Glu273LeufsTer?
XM_006721243.2:c.816_817insTT	XP_006721306.1:p.Glu273LeufsTer?
XM_011523257.1:c.393_394insTT	XP_011521559.1:p.Glu132LeufsTer?
XM_011523258.1:c.393_394insTT	XP_011521560.1:p.Glu132LeufsTer?
XM_011523259.1:c.231_232insTT	XP_011521561.1:p.Glu78LeufsTer?
XM_011523260.1:c.816_817insTT	XP_011521562.1:p.Glu273LeufsTer?
XM_011523261.1:c.816_817insTT	XP_011521563.1:p.Glu273LeufsTer?
XR_429725.2:n.906_907insTT
XR_429726.2:n.906_907insTT
XR_933387.1:n.906_907insTT
XM_005256084.4:c.816_817insTT	XP_005256141.1:p.Glu273LeufsTer?
XM_006721242.4:c.816_817insTT	XP_006721305.1:p.Glu273LeufsTer?
XM_006721243.4:c.816_817insTT	XP_006721306.1:p.Glu273LeufsTer?
XM_011523259.2:c.231_232insTT	XP_011521561.1:p.Glu78LeufsTer?
XM_011523260.3:c.816_817insTT	XP_011521562.1:p.Glu273LeufsTer?
XM_011523261.2:c.816_817insTT	XP_011521563.1:p.Glu273LeufsTer?
XM_017023535.1:c.324_325insTT	XP_016879024.1:p.Glu109LeufsTer?
XM_017023536.1:c.231_232insTT	XP_016879025.1:p.Glu78LeufsTer?
XM_017023537.1:c.231_232insTT	XP_016879026.1:p.Glu78LeufsTer?
XM_017023538.1:c.231_232insTT	XP_016879027.1:p.Glu78LeufsTer?
XR_429725.3:n.859_860insTT
XR_429726.3:n.859_860insTT
XR_933387.2:n.859_860insTT
NM_001293557.2:c.816_817insTT	NP_001280486.1:p.Glu273LeufsTer?
NM_001370466.1:c.816_817insTT MANE Select	NP_001357395.1:p.Glu273LeufsTer?
NM_022162.3:c.897_898insTT	NP_071445.1:p.Glu300LeufsTer?
NR_163434.1:n.881_882insTT