Canonical Allele Identifier: CA395867478

Gene: NOD2

Linked Data

• ClinVar Variation Id: 1923914
• ClinVar RCV Id: RCV002609233
• dbSNP Id: rs1964422521
• gnomAD v3: 16-50710659-G-A
• gnomAD v4: 16-50710659-G-A
• MyVariant Identifiers: chr16:g.50744570G>A (hg19) ; chr16:g.50710659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710659G>A , CM000678.2:g.50710659G>A	GRCh38
NC_000016.9:g.50744570G>A , CM000678.1:g.50744570G>A	GRCh37
NC_000016.8:g.49302071G>A	NCBI36
NG_007508.1:g.18521G>A , LRG_177:g.18521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.667G>A	ENSP00000493088.1:p.Asp223Asn
ENST00000646677.2:c.667G>A	ENSP00000496533.1:p.Asp223Asn
ENST00000641284.1:c.667G>A	ENSP00000493088.1:p.Asp223Asn
ENST00000646677.1:c.667G>A	ENSP00000496533.1:p.Asp223Asn
ENST00000647318.2:c.667G>A MANE Select	ENSP00000495993.1:p.Asp223Asn
ENST00000300589.6:c.748G>A	ENSP00000300589.2:p.Asp250Asn
ENST00000526417.6:n.808G>A
ENST00000527070.5:c.*1363G>A	ENSP00000435149.1:n.*1363G>A
ENST00000532206.1:n.746G>A
NM_001293557.1:c.667G>A	NP_001280486.1:p.Asp223Asn
NM_022162.2:c.748G>A	NP_071445.1:p.Asp250Asn
XM_005256084.2:c.667G>A	XP_005256141.1:p.Asp223Asn
XM_006721242.2:c.667G>A	XP_006721305.1:p.Asp223Asn
XM_006721243.2:c.667G>A	XP_006721306.1:p.Asp223Asn
XM_011523257.1:c.244G>A	XP_011521559.1:p.Asp82Asn
XM_011523258.1:c.244G>A	XP_011521560.1:p.Asp82Asn
XM_011523259.1:c.82G>A	XP_011521561.1:p.Asp28Asn
XM_011523260.1:c.667G>A	XP_011521562.1:p.Asp223Asn
XM_011523261.1:c.667G>A	XP_011521563.1:p.Asp223Asn
XR_429725.2:n.757G>A
XR_429726.2:n.757G>A
XR_933387.1:n.757G>A
XM_005256084.4:c.667G>A	XP_005256141.1:p.Asp223Asn
XM_006721242.4:c.667G>A	XP_006721305.1:p.Asp223Asn
XM_006721243.4:c.667G>A	XP_006721306.1:p.Asp223Asn
XM_011523259.2:c.82G>A	XP_011521561.1:p.Asp28Asn
XM_011523260.3:c.667G>A	XP_011521562.1:p.Asp223Asn
XM_011523261.2:c.667G>A	XP_011521563.1:p.Asp223Asn
XM_017023535.1:c.175G>A	XP_016879024.1:p.Asp59Asn
XM_017023536.1:c.82G>A	XP_016879025.1:p.Asp28Asn
XM_017023537.1:c.82G>A	XP_016879026.1:p.Asp28Asn
XM_017023538.1:c.82G>A	XP_016879027.1:p.Asp28Asn
XR_429725.3:n.710G>A
XR_429726.3:n.710G>A
XR_933387.2:n.710G>A
NM_001293557.2:c.667G>A	NP_001280486.1:p.Asp223Asn
NM_001370466.1:c.667G>A MANE Select	NP_001357395.1:p.Asp223Asn
NM_022162.3:c.748G>A	NP_071445.1:p.Asp250Asn
NR_163434.1:n.732G>A