Canonical Allele Identifier: CA8051281

Gene: NOD2

Linked Data

• ClinVar Variation Id: 319426
• ClinVar RCV Id: RCV000330156 ; RCV001782790 ; RCV001812838 ; RCV002521018 ; RCV002261054 ; RCV003969902
• dbSNP Id: rs146054564
• ExAC: 16:50733785 G / A
• gnomAD v2: 16-50733785-G-A
• gnomAD v3: 16-50699874-G-A
• gnomAD v4: 16-50699874-G-A
• MyVariant Identifiers: chr16:g.50733785G>A (hg19) ; chr16:g.50699874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699874G>A , CM000678.2:g.50699874G>A	GRCh38
NC_000016.9:g.50733785G>A , CM000678.1:g.50733785G>A	GRCh37
NC_000016.8:g.49291286G>A	NCBI36
NG_007508.1:g.7736G>A , LRG_177:g.7736G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.379G>A	ENSP00000493088.1:p.Asp127Asn
ENST00000646677.2:c.379G>A	ENSP00000496533.1:p.Asp127Asn
ENST00000641284.1:c.379G>A	ENSP00000493088.1:p.Asp127Asn
ENST00000646677.1:c.379G>A	ENSP00000496533.1:p.Asp127Asn
ENST00000647318.2:c.379G>A MANE Select	ENSP00000495993.1:p.Asp127Asn
ENST00000300589.6:c.460G>A	ENSP00000300589.2:p.Asp154Asn
ENST00000526417.6:n.447G>A
ENST00000527070.5:c.*1075G>A	ENSP00000435149.1:n.*1075G>A
ENST00000531674.1:c.379G>A	ENSP00000431681.1:p.Asp127Asn
ENST00000532206.1:n.564G>A
NM_001293557.1:c.379G>A	NP_001280486.1:p.Asp127Asn
NM_022162.2:c.460G>A	NP_071445.1:p.Asp154Asn
XM_005256084.2:c.379G>A	XP_005256141.1:p.Asp127Asn
XM_006721242.2:c.379G>A	XP_006721305.1:p.Asp127Asn
XM_006721243.2:c.379G>A	XP_006721306.1:p.Asp127Asn
XM_011523257.1:c.-118G>A	XP_011521559.1:n.-118G>A
XM_011523258.1:c.-38+6212G>A	XP_011521560.1:n.-38+6212G>A
XM_011523259.1:c.-101G>A	XP_011521561.1:n.-101G>A
XM_011523260.1:c.379G>A	XP_011521562.1:p.Asp127Asn
XM_011523261.1:c.379G>A	XP_011521563.1:p.Asp127Asn
XR_429725.2:n.469G>A
XR_429726.2:n.469G>A
XR_933387.1:n.469G>A
XM_005256084.4:c.379G>A	XP_005256141.1:p.Asp127Asn
XM_006721242.4:c.379G>A	XP_006721305.1:p.Asp127Asn
XM_006721243.4:c.379G>A	XP_006721306.1:p.Asp127Asn
XM_011523259.2:c.-101G>A	XP_011521561.1:n.-101G>A
XM_011523260.3:c.379G>A	XP_011521562.1:p.Asp127Asn
XM_011523261.2:c.379G>A	XP_011521563.1:p.Asp127Asn
XM_017023536.1:c.-127+6212G>A	XP_016879025.1:n.-127+6212G>A
XM_017023537.1:c.-21+6212G>A	XP_016879026.1:n.-21+6212G>A
XR_429725.3:n.422G>A
XR_429726.3:n.422G>A
XR_933387.2:n.422G>A
NM_001293557.2:c.379G>A	NP_001280486.1:p.Asp127Asn
NM_001370466.1:c.379G>A MANE Select	NP_001357395.1:p.Asp127Asn
NM_022162.3:c.460G>A	NP_071445.1:p.Asp154Asn
NR_163434.1:n.444G>A