Canonical Allele Identifier: CA395875248

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50756596C>A (hg19) ; chr16:g.50722685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722685C>A , CM000678.2:g.50722685C>A	GRCh38
NC_000016.9:g.50756596C>A , CM000678.1:g.50756596C>A	GRCh37
NC_000016.8:g.49314097C>A	NCBI36
NG_007508.1:g.30547C>A , LRG_177:g.30547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7133C>A	ENSP00000493088.1:n.2382-7133C>A
ENST00000646677.2:c.*462C>A	ENSP00000496533.1:n.*462C>A
ENST00000697425.1:c.524C>A
ENST00000697426.1:c.412C>A
ENST00000697427.1:c.328C>A
ENST00000697428.1:n.2175C>A
ENST00000641284.1:c.2382-7133C>A	ENSP00000493088.1:n.2382-7133C>A
ENST00000646677.1:c.*462C>A	ENSP00000496533.1:n.*462C>A
ENST00000647318.2:c.2697C>A MANE Select	ENSP00000495993.1:p.His899Gln
ENST00000300589.6:c.2778C>A	ENSP00000300589.2:p.His926Gln
ENST00000524712.5:c.272C>A
ENST00000527052.5:c.244C>A
ENST00000529633.5:c.356C>A
ENST00000534057.1:c.412C>A
ENST00000534067.5:c.508C>A
NM_001293557.1:c.2697C>A	NP_001280486.1:p.His899Gln
NM_022162.2:c.2778C>A	NP_071445.1:p.His926Gln
XM_005256084.2:c.2697C>A	XP_005256141.1:p.His899Gln
XM_006721242.2:c.2613C>A	XP_006721305.1:p.His871Gln
XM_011523257.1:c.2274C>A	XP_011521559.1:p.His758Gln
XM_011523258.1:c.2274C>A	XP_011521560.1:p.His758Gln
XM_011523259.1:c.2112C>A	XP_011521561.1:p.His704Gln
XR_429725.2:n.2619C>A
XR_429726.2:n.2535C>A
XR_933387.1:n.2815C>A
XM_005256084.4:c.2697C>A	XP_005256141.1:p.His899Gln
XM_006721242.4:c.2613C>A	XP_006721305.1:p.His871Gln
XM_011523259.2:c.2112C>A	XP_011521561.1:p.His704Gln
XM_017023535.1:c.2205C>A	XP_016879024.1:p.His735Gln
XM_017023536.1:c.2112C>A	XP_016879025.1:p.His704Gln
XM_017023537.1:c.2112C>A	XP_016879026.1:p.His704Gln
XM_017023538.1:c.2112C>A	XP_016879027.1:p.His704Gln
XR_429725.3:n.2572C>A
XR_429726.3:n.2488C>A
XR_933387.2:n.2768C>A
NM_001293557.2:c.2697C>A	NP_001280486.1:p.His899Gln
NM_001370466.1:c.2697C>A MANE Select	NP_001357395.1:p.His899Gln
NM_022162.3:c.2778C>A	NP_071445.1:p.His926Gln
NR_163434.1:n.2909C>A