Canonical Allele Identifier: CA2633164171

Gene: NOD2

Linked Data

• gnomAD v4: 16-50711020-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711023del , CM000678.2:g.50711023del	GRCh38
NC_000016.9:g.50744934del , CM000678.1:g.50744934del	GRCh37
NC_000016.8:g.49302435del	NCBI36
NG_007508.1:g.18885del , LRG_177:g.18885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1031del	ENSP00000493088.1:p.Pro344LeufsTer6
ENST00000646677.2:c.1031del	ENSP00000496533.1:p.Pro344LeufsTer6
ENST00000641284.1:c.1031del	ENSP00000493088.1:p.Pro344LeufsTer6
ENST00000646677.1:c.1031del	ENSP00000496533.1:p.Pro344LeufsTer6
ENST00000647318.2:c.1031del MANE Select	ENSP00000495993.1:p.Pro344LeufsTer6
ENST00000300589.6:c.1112del	ENSP00000300589.2:p.Pro371LeufsTer6
NM_001293557.1:c.1031del	NP_001280486.1:p.Pro344LeufsTer6
NM_022162.2:c.1112del	NP_071445.1:p.Pro371LeufsTer6
XM_005256084.2:c.1031del	XP_005256141.1:p.Pro344LeufsTer6
XM_006721242.2:c.1031del	XP_006721305.1:p.Pro344LeufsTer6
XM_006721243.2:c.1031del	XP_006721306.1:p.Pro344LeufsTer6
XM_011523257.1:c.608del	XP_011521559.1:p.Pro203LeufsTer6
XM_011523258.1:c.608del	XP_011521560.1:p.Pro203LeufsTer6
XM_011523259.1:c.446del	XP_011521561.1:p.Pro149LeufsTer6
XM_011523260.1:c.1031del	XP_011521562.1:p.Pro344LeufsTer6
XM_011523261.1:c.1031del	XP_011521563.1:p.Pro344LeufsTer6
XR_429725.2:n.1121del
XR_429726.2:n.1121del
XR_933387.1:n.1121del
XM_005256084.4:c.1031del	XP_005256141.1:p.Pro344LeufsTer6
XM_006721242.4:c.1031del	XP_006721305.1:p.Pro344LeufsTer6
XM_006721243.4:c.1031del	XP_006721306.1:p.Pro344LeufsTer6
XM_011523259.2:c.446del	XP_011521561.1:p.Pro149LeufsTer6
XM_011523260.3:c.1031del	XP_011521562.1:p.Pro344LeufsTer6
XM_011523261.2:c.1031del	XP_011521563.1:p.Pro344LeufsTer6
XM_017023535.1:c.539del	XP_016879024.1:p.Pro180LeufsTer6
XM_017023536.1:c.446del	XP_016879025.1:p.Pro149LeufsTer6
XM_017023537.1:c.446del	XP_016879026.1:p.Pro149LeufsTer6
XM_017023538.1:c.446del	XP_016879027.1:p.Pro149LeufsTer6
XR_429725.3:n.1074del
XR_429726.3:n.1074del
XR_933387.2:n.1074del
NM_001293557.2:c.1031del	NP_001280486.1:p.Pro344LeufsTer6
NM_001370466.1:c.1031del MANE Select	NP_001357395.1:p.Pro344LeufsTer6
NM_022162.3:c.1112del	NP_071445.1:p.Pro371LeufsTer6
NR_163434.1:n.1096del