Canonical Allele Identifier: CA8051619

Gene: NOD2

Linked Data

• ClinVar Variation Id: 570145
• ClinVar RCV Id: RCV002544896
• dbSNP Id: rs373185098
• ExAC: 16:50745582 G / A
• gnomAD v2: 16-50745582-G-A
• gnomAD v3: 16-50711671-G-A
• gnomAD v4: 16-50711671-G-A
• MyVariant Identifiers: chr16:g.50745582G>A (hg19) ; chr16:g.50711671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711671G>A , CM000678.2:g.50711671G>A	GRCh38
NC_000016.9:g.50745582G>A , CM000678.1:g.50745582G>A	GRCh37
NC_000016.8:g.49303083G>A	NCBI36
NG_007508.1:g.19533G>A , LRG_177:g.19533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1679G>A	ENSP00000493088.1:p.Arg560His
ENST00000646677.2:c.1679G>A	ENSP00000496533.1:p.Arg560His
ENST00000641284.1:c.1679G>A	ENSP00000493088.1:p.Arg560His
ENST00000646677.1:c.1679G>A	ENSP00000496533.1:p.Arg560His
ENST00000647318.2:c.1679G>A MANE Select	ENSP00000495993.1:p.Arg560His
ENST00000300589.6:c.1760G>A	ENSP00000300589.2:p.Arg587His
NM_001293557.1:c.1679G>A	NP_001280486.1:p.Arg560His
NM_022162.2:c.1760G>A	NP_071445.1:p.Arg587His
XM_005256084.2:c.1679G>A	XP_005256141.1:p.Arg560His
XM_006721242.2:c.1679G>A	XP_006721305.1:p.Arg560His
XM_006721243.2:c.1679G>A	XP_006721306.1:p.Arg560His
XM_011523257.1:c.1256G>A	XP_011521559.1:p.Arg419His
XM_011523258.1:c.1256G>A	XP_011521560.1:p.Arg419His
XM_011523259.1:c.1094G>A	XP_011521561.1:p.Arg365His
XM_011523260.1:c.1679G>A	XP_011521562.1:p.Arg560His
XM_011523261.1:c.1679G>A	XP_011521563.1:p.Arg560His
XR_429725.2:n.1769G>A
XR_429726.2:n.1769G>A
XR_933387.1:n.1769G>A
XM_005256084.4:c.1679G>A	XP_005256141.1:p.Arg560His
XM_006721242.4:c.1679G>A	XP_006721305.1:p.Arg560His
XM_006721243.4:c.1679G>A	XP_006721306.1:p.Arg560His
XM_011523259.2:c.1094G>A	XP_011521561.1:p.Arg365His
XM_011523260.3:c.1679G>A	XP_011521562.1:p.Arg560His
XM_011523261.2:c.1679G>A	XP_011521563.1:p.Arg560His
XM_017023535.1:c.1187G>A	XP_016879024.1:p.Arg396His
XM_017023536.1:c.1094G>A	XP_016879025.1:p.Arg365His
XM_017023537.1:c.1094G>A	XP_016879026.1:p.Arg365His
XM_017023538.1:c.1094G>A	XP_016879027.1:p.Arg365His
XR_429725.3:n.1722G>A
XR_429726.3:n.1722G>A
XR_933387.2:n.1722G>A
NM_001293557.2:c.1679G>A	NP_001280486.1:p.Arg560His
NM_001370466.1:c.1679G>A MANE Select	NP_001357395.1:p.Arg560His
NM_022162.3:c.1760G>A	NP_071445.1:p.Arg587His
NR_163434.1:n.1744G>A