Canonical Allele Identifier: CA213421

Gene: NOD2

Linked Data

• ClinVar Variation Id: 97880
• ClinVar RCV Id: RCV000202800 ; RCV000302918 ; RCV001781432 ; RCV001811398 ; RCV002514489 ; RCV002262681
• dbSNP Id: rs104895421
• ExAC: 16:50733392 T / A
• gnomAD v2: 16-50733392-T-A
• gnomAD v3: 16-50699481-T-A
• gnomAD v4: 16-50699481-T-A
• MyVariant Identifiers: chr16:g.50733392T>A (hg19) ; chr16:g.50733392_50733393delinsAC (hg19) ; chr16:g.50699481T>A (hg38)
• PubMed: PMID:16278823

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699481T>A , CM000678.2:g.50699481T>A	GRCh38
NC_000016.9:g.50733392T>A , CM000678.1:g.50733392T>A	GRCh37
NC_000016.8:g.49290893T>A	NCBI36
NG_007508.1:g.7343T>A , LRG_177:g.7343T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.-8-7T>A	ENSP00000493088.1:n.-8-7T>A
ENST00000646677.2:c.-8-7T>A	ENSP00000496533.1:n.-8-7T>A
ENST00000641284.1:c.-8-7T>A	ENSP00000493088.1:n.-8-7T>A
ENST00000646677.1:c.-8-7T>A	ENSP00000496533.1:n.-8-7T>A
ENST00000647318.2:c.-8-7T>A MANE Select	ENSP00000495993.1:n.-8-7T>A
ENST00000300589.6:c.74-7T>A	ENSP00000300589.2:n.74-7T>A
ENST00000526417.6:n.61-7T>A
ENST00000527070.5:c.*689-7T>A	ENSP00000435149.1:n.*689-7T>A
ENST00000531674.1:c.-8-7T>A	ENSP00000431681.1:n.-8-7T>A
ENST00000532206.1:n.178-7T>A
NM_001293557.1:c.-15T>A	NP_001280486.1:n.-15T>A
NM_022162.2:c.74-7T>A	NP_071445.1:n.74-7T>A
XM_005256084.2:c.-8-7T>A	XP_005256141.1:n.-8-7T>A
XM_006721242.2:c.-8-7T>A	XP_006721305.1:n.-8-7T>A
XM_006721243.2:c.-8-7T>A	XP_006721306.1:n.-8-7T>A
XM_011523258.1:c.-38+5819T>A	XP_011521560.1:n.-38+5819T>A
XM_011523260.1:c.-8-7T>A	XP_011521562.1:n.-8-7T>A
XM_011523261.1:c.-8-7T>A	XP_011521563.1:n.-8-7T>A
XR_429725.2:n.83-7T>A
XR_429726.2:n.83-7T>A
XR_933387.1:n.83-7T>A
XM_005256084.4:c.-8-7T>A	XP_005256141.1:n.-8-7T>A
XM_006721242.4:c.-8-7T>A	XP_006721305.1:n.-8-7T>A
XM_006721243.4:c.-8-7T>A	XP_006721306.1:n.-8-7T>A
XM_011523260.3:c.-8-7T>A	XP_011521562.1:n.-8-7T>A
XM_011523261.2:c.-8-7T>A	XP_011521563.1:n.-8-7T>A
XM_017023536.1:c.-127+5819T>A	XP_016879025.1:n.-127+5819T>A
XM_017023537.1:c.-21+5819T>A	XP_016879026.1:n.-21+5819T>A
XR_429725.3:n.36-7T>A
XR_429726.3:n.36-7T>A
XR_933387.2:n.36-7T>A
NM_001293557.2:c.-15T>A	NP_001280486.1:n.-15T>A
NM_001370466.1:c.-8-7T>A MANE Select	NP_001357395.1:n.-8-7T>A
NM_022162.3:c.74-7T>A	NP_071445.1:n.74-7T>A
NR_163434.1:n.58-7T>A