Canonical Allele Identifier: CA230135

Gene: NOD2

Linked Data

• ClinVar Variation Id: 103114
• ClinVar RCV Id: RCV000089374 ; RCV001115536 ; RCV001781436
• dbSNP Id: rs199475923
• ExAC: 16:50765738 G / A
• gnomAD v2: 16-50765738-G-A
• gnomAD v3: 16-50731827-G-A
• gnomAD v4: 16-50731827-G-A
• MyVariant Identifiers: chr16:g.50765738G>A (hg19) ; chr16:g.50731827G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50731827G>A , CM000678.2:g.50731827G>A	GRCh38
NC_000016.9:g.50765738G>A , CM000678.1:g.50765738G>A	GRCh37
NC_000016.8:g.49323239G>A	NCBI36
NG_007508.1:g.39689G>A , LRG_177:g.39689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.*164G>A	ENSP00000493088.1:n.*164G>A
ENST00000646677.2:c.*815G>A	ENSP00000496533.1:n.*815G>A
ENST00000697428.1:n.2528G>A
ENST00000641284.1:c.*164G>A	ENSP00000493088.1:n.*164G>A
ENST00000646677.1:c.*815G>A	ENSP00000496533.1:n.*815G>A
ENST00000647318.2:c.*8G>A MANE Select	ENSP00000495993.1:n.*8G>A
ENST00000300589.6:c.*8G>A	ENSP00000300589.2:n.*8G>A
NM_001293557.1:c.*8G>A	NP_001280486.1:n.*8G>A
NM_022162.2:c.*8G>A	NP_071445.1:n.*8G>A
XM_005256084.2:c.*8G>A	XP_005256141.1:n.*8G>A
XM_006721242.2:c.*8G>A	XP_006721305.1:n.*8G>A
XM_011523257.1:c.*8G>A	XP_011521559.1:n.*8G>A
XM_011523258.1:c.*8G>A	XP_011521560.1:n.*8G>A
XM_011523259.1:c.*8G>A	XP_011521561.1:n.*8G>A
XM_005256084.4:c.*8G>A	XP_005256141.1:n.*8G>A
XM_006721242.4:c.*8G>A	XP_006721305.1:n.*8G>A
XM_011523259.2:c.*8G>A	XP_011521561.1:n.*8G>A
XM_017023535.1:c.*8G>A	XP_016879024.1:n.*8G>A
XM_017023536.1:c.*8G>A	XP_016879025.1:n.*8G>A
XM_017023537.1:c.*8G>A	XP_016879026.1:n.*8G>A
XM_017023538.1:c.*8G>A	XP_016879027.1:n.*8G>A
NM_001293557.2:c.*8G>A	NP_001280486.1:n.*8G>A
NM_001370466.1:c.*8G>A MANE Select	NP_001357395.1:n.*8G>A
NM_022162.3:c.*8G>A	NP_071445.1:n.*8G>A
NR_163434.1:n.3262G>A