Canonical Allele Identifier: CA395875170

Gene: NOD2

Linked Data

• dbSNP Id: rs1188261459
• gnomAD v2: 16-50756579-G-A
• gnomAD v4: 16-50722668-G-A
• MyVariant Identifiers: chr16:g.50756579G>A (hg19) ; chr16:g.50722668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722668G>A , CM000678.2:g.50722668G>A	GRCh38
NC_000016.9:g.50756579G>A , CM000678.1:g.50756579G>A	GRCh37
NC_000016.8:g.49314080G>A	NCBI36
NG_007508.1:g.30530G>A , LRG_177:g.30530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7150G>A	ENSP00000493088.1:n.2382-7150G>A
ENST00000646677.2:c.*445G>A	ENSP00000496533.1:n.*445G>A
ENST00000697425.1:c.507G>A
ENST00000697426.1:c.395G>A
ENST00000697427.1:c.311G>A
ENST00000697428.1:n.2158G>A
ENST00000641284.1:c.2382-7150G>A	ENSP00000493088.1:n.2382-7150G>A
ENST00000646677.1:c.*445G>A	ENSP00000496533.1:n.*445G>A
ENST00000647318.2:c.2680G>A MANE Select	ENSP00000495993.1:p.Glu894Lys
ENST00000300589.6:c.2761G>A	ENSP00000300589.2:p.Glu921Lys
ENST00000524712.5:c.255G>A
ENST00000527052.5:c.227G>A
ENST00000529633.5:c.339G>A
ENST00000534057.1:c.395G>A
ENST00000534067.5:c.491G>A
NM_001293557.1:c.2680G>A	NP_001280486.1:p.Glu894Lys
NM_022162.2:c.2761G>A	NP_071445.1:p.Glu921Lys
XM_005256084.2:c.2680G>A	XP_005256141.1:p.Glu894Lys
XM_006721242.2:c.2596G>A	XP_006721305.1:p.Glu866Lys
XM_011523257.1:c.2257G>A	XP_011521559.1:p.Glu753Lys
XM_011523258.1:c.2257G>A	XP_011521560.1:p.Glu753Lys
XM_011523259.1:c.2095G>A	XP_011521561.1:p.Glu699Lys
XR_429725.2:n.2602G>A
XR_429726.2:n.2518G>A
XR_933387.1:n.2798G>A
XM_005256084.4:c.2680G>A	XP_005256141.1:p.Glu894Lys
XM_006721242.4:c.2596G>A	XP_006721305.1:p.Glu866Lys
XM_011523259.2:c.2095G>A	XP_011521561.1:p.Glu699Lys
XM_017023535.1:c.2188G>A	XP_016879024.1:p.Glu730Lys
XM_017023536.1:c.2095G>A	XP_016879025.1:p.Glu699Lys
XM_017023537.1:c.2095G>A	XP_016879026.1:p.Glu699Lys
XM_017023538.1:c.2095G>A	XP_016879027.1:p.Glu699Lys
XR_429725.3:n.2555G>A
XR_429726.3:n.2471G>A
XR_933387.2:n.2751G>A
NM_001293557.2:c.2680G>A	NP_001280486.1:p.Glu894Lys
NM_001370466.1:c.2680G>A MANE Select	NP_001357395.1:p.Glu894Lys
NM_022162.3:c.2761G>A	NP_071445.1:p.Glu921Lys
NR_163434.1:n.2892G>A