Canonical Allele Identifier: CA117027

Gene: NOD2

Linked Data

• ClinVar Variation Id: 4699
• ClinVar RCV Id: RCV003764528
• dbSNP Id: rs104895476
• MyVariant Identifiers: chr16:g.50744968C>G (hg19) ; chr16:g.50711057C>G (hg38)
• PubMed: PMID:7825454 ; PMID:11875755 ; PMID:15459013

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711057C>G , CM000678.2:g.50711057C>G	GRCh38
NC_000016.9:g.50744968C>G , CM000678.1:g.50744968C>G	GRCh37
NC_000016.8:g.49302469C>G	NCBI36
NG_007508.1:g.18919C>G , LRG_177:g.18919C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.1065C>G	ENSP00000493088.1:p.Asp355Glu
ENST00000646677.2:c.1065C>G	ENSP00000496533.1:p.Asp355Glu
ENST00000641284.1:c.1065C>G	ENSP00000493088.1:p.Asp355Glu
ENST00000646677.1:c.1065C>G	ENSP00000496533.1:p.Asp355Glu
ENST00000647318.2:c.1065C>G MANE Select	ENSP00000495993.1:p.Asp355Glu
ENST00000300589.6:c.1146C>G	ENSP00000300589.2:p.Asp382Glu
NM_001293557.1:c.1065C>G	NP_001280486.1:p.Asp355Glu
NM_022162.2:c.1146C>G	NP_071445.1:p.Asp382Glu
XM_005256084.2:c.1065C>G	XP_005256141.1:p.Asp355Glu
XM_006721242.2:c.1065C>G	XP_006721305.1:p.Asp355Glu
XM_006721243.2:c.1065C>G	XP_006721306.1:p.Asp355Glu
XM_011523257.1:c.642C>G	XP_011521559.1:p.Asp214Glu
XM_011523258.1:c.642C>G	XP_011521560.1:p.Asp214Glu
XM_011523259.1:c.480C>G	XP_011521561.1:p.Asp160Glu
XM_011523260.1:c.1065C>G	XP_011521562.1:p.Asp355Glu
XM_011523261.1:c.1065C>G	XP_011521563.1:p.Asp355Glu
XR_429725.2:n.1155C>G
XR_429726.2:n.1155C>G
XR_933387.1:n.1155C>G
XM_005256084.4:c.1065C>G	XP_005256141.1:p.Asp355Glu
XM_006721242.4:c.1065C>G	XP_006721305.1:p.Asp355Glu
XM_006721243.4:c.1065C>G	XP_006721306.1:p.Asp355Glu
XM_011523259.2:c.480C>G	XP_011521561.1:p.Asp160Glu
XM_011523260.3:c.1065C>G	XP_011521562.1:p.Asp355Glu
XM_011523261.2:c.1065C>G	XP_011521563.1:p.Asp355Glu
XM_017023535.1:c.573C>G	XP_016879024.1:p.Asp191Glu
XM_017023536.1:c.480C>G	XP_016879025.1:p.Asp160Glu
XM_017023537.1:c.480C>G	XP_016879026.1:p.Asp160Glu
XM_017023538.1:c.480C>G	XP_016879027.1:p.Asp160Glu
XR_429725.3:n.1108C>G
XR_429726.3:n.1108C>G
XR_933387.2:n.1108C>G
NM_001293557.2:c.1065C>G	NP_001280486.1:p.Asp355Glu
NM_001370466.1:c.1065C>G MANE Select	NP_001357395.1:p.Asp355Glu
NM_022162.3:c.1146C>G	NP_071445.1:p.Asp382Glu
NR_163434.1:n.1130C>G