Canonical Allele Identifier: CA150256

Gene: NOD2

Linked Data

• ClinVar Variation Id: 97848
• ClinVar RCV Id: RCV000084105 ; RCV000785151 ; RCV001781418 ; RCV002514478 ; RCV002260978
• dbSNP Id: rs104895443
• ExAC: 16:50746154 G / A
• gnomAD v2: 16-50746154-G-A
• gnomAD v3: 16-50712243-G-A
• gnomAD v4: 16-50712243-G-A
• MyVariant Identifiers: chr16:g.50746154G>A (hg19) ; chr16:g.50712243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712243G>A , CM000678.2:g.50712243G>A	GRCh38
NC_000016.9:g.50746154G>A , CM000678.1:g.50746154G>A	GRCh37
NC_000016.8:g.49303655G>A	NCBI36
NG_007508.1:g.20105G>A , LRG_177:g.20105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2251G>A	ENSP00000493088.1:p.Glu751Lys
ENST00000646677.2:c.2251G>A	ENSP00000496533.1:p.Glu751Lys
ENST00000697425.1:c.50G>A
ENST00000697426.1:c.50G>A
ENST00000697427.1:c.50G>A
ENST00000641284.1:c.2251G>A	ENSP00000493088.1:p.Glu751Lys
ENST00000646677.1:c.2251G>A	ENSP00000496533.1:p.Glu751Lys
ENST00000647318.2:c.2251G>A MANE Select	ENSP00000495993.1:p.Glu751Lys
ENST00000300589.6:c.2332G>A	ENSP00000300589.2:p.Glu778Lys
ENST00000524712.5:c.50G>A
ENST00000527052.5:c.50G>A
ENST00000529633.5:c.50G>A
ENST00000534057.1:c.50G>A
ENST00000534067.5:c.50G>A
NM_001293557.1:c.2251G>A	NP_001280486.1:p.Glu751Lys
NM_022162.2:c.2332G>A	NP_071445.1:p.Glu778Lys
XM_005256084.2:c.2251G>A	XP_005256141.1:p.Glu751Lys
XM_006721242.2:c.2251G>A	XP_006721305.1:p.Glu751Lys
XM_006721243.2:c.2251G>A	XP_006721306.1:p.Glu751Lys
XM_011523257.1:c.1828G>A	XP_011521559.1:p.Glu610Lys
XM_011523258.1:c.1828G>A	XP_011521560.1:p.Glu610Lys
XM_011523259.1:c.1666G>A	XP_011521561.1:p.Glu556Lys
XM_011523260.1:c.2251G>A	XP_011521562.1:p.Glu751Lys
XM_011523261.1:c.2251G>A	XP_011521563.1:p.Glu751Lys
XR_429725.2:n.2341G>A
XR_429726.2:n.2341G>A
XR_933387.1:n.2341G>A
XM_005256084.4:c.2251G>A	XP_005256141.1:p.Glu751Lys
XM_006721242.4:c.2251G>A	XP_006721305.1:p.Glu751Lys
XM_006721243.4:c.2251G>A	XP_006721306.1:p.Glu751Lys
XM_011523259.2:c.1666G>A	XP_011521561.1:p.Glu556Lys
XM_011523260.3:c.2251G>A	XP_011521562.1:p.Glu751Lys
XM_011523261.2:c.2251G>A	XP_011521563.1:p.Glu751Lys
XM_017023535.1:c.1759G>A	XP_016879024.1:p.Glu587Lys
XM_017023536.1:c.1666G>A	XP_016879025.1:p.Glu556Lys
XM_017023537.1:c.1666G>A	XP_016879026.1:p.Glu556Lys
XM_017023538.1:c.1666G>A	XP_016879027.1:p.Glu556Lys
XR_429725.3:n.2294G>A
XR_429726.3:n.2294G>A
XR_933387.2:n.2294G>A
NM_001293557.2:c.2251G>A	NP_001280486.1:p.Glu751Lys
NM_001370466.1:c.2251G>A MANE Select	NP_001357395.1:p.Glu751Lys
NM_022162.3:c.2332G>A	NP_071445.1:p.Glu778Lys
NR_163434.1:n.2316G>A