Canonical Allele Identifier: CA10648458

Gene: NOD2

Linked Data

• ClinVar Variation Id: 319468
• ClinVar RCV Id: RCV001782830 ; RCV002522867 ; RCV003392204
• dbSNP Id: rs765335094
• gnomAD v2: 16-50750529-A-G
• gnomAD v3: 16-50716618-A-G
• gnomAD v4: 16-50716618-A-G
• MyVariant Identifiers: chr16:g.50750529A>G (hg19) ; chr16:g.50716618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50716618A>G , CM000678.2:g.50716618A>G	GRCh38
NC_000016.9:g.50750529A>G , CM000678.1:g.50750529A>G	GRCh37
NC_000016.8:g.49308030A>G	NCBI36
NG_007508.1:g.24480A>G , LRG_177:g.24480A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2381+4245A>G	ENSP00000493088.1:n.2381+4245A>G
ENST00000646677.2:c.*178A>G	ENSP00000496533.1:n.*178A>G
ENST00000697425.1:c.240A>G
ENST00000697426.1:c.212A>G
ENST00000697427.1:c.181-3307A>G
ENST00000697428.1:n.1891A>G
ENST00000641284.1:c.2381+4245A>G	ENSP00000493088.1:n.2381+4245A>G
ENST00000646677.1:c.*178A>G	ENSP00000496533.1:n.*178A>G
ENST00000647318.2:c.2413A>G MANE Select	ENSP00000495993.1:p.Ile805Val
ENST00000300589.6:c.2494A>G	ENSP00000300589.2:p.Ile832Val
ENST00000524712.5:c.208+4217A>G
ENST00000527052.5:c.180+4245A>G
ENST00000529633.5:c.209-3307A>G
ENST00000534057.1:c.212A>G
ENST00000534067.5:c.444+3981A>G
NM_001293557.1:c.2413A>G	NP_001280486.1:p.Ile805Val
NM_022162.2:c.2494A>G	NP_071445.1:p.Ile832Val
XM_005256084.2:c.2413A>G	XP_005256141.1:p.Ile805Val
XM_006721242.2:c.2413A>G	XP_006721305.1:p.Ile805Val
XM_011523257.1:c.1990A>G	XP_011521559.1:p.Ile664Val
XM_011523258.1:c.1990A>G	XP_011521560.1:p.Ile664Val
XM_011523259.1:c.1828A>G	XP_011521561.1:p.Ile610Val
XR_429725.2:n.2472-3307A>G
XR_429726.2:n.2471+4245A>G
XR_933387.1:n.2531A>G
XM_005256084.4:c.2413A>G	XP_005256141.1:p.Ile805Val
XM_006721242.4:c.2413A>G	XP_006721305.1:p.Ile805Val
XM_011523259.2:c.1828A>G	XP_011521561.1:p.Ile610Val
XM_017023535.1:c.1921A>G	XP_016879024.1:p.Ile641Val
XM_017023536.1:c.1828A>G	XP_016879025.1:p.Ile610Val
XM_017023537.1:c.1828A>G	XP_016879026.1:p.Ile610Val
XM_017023538.1:c.1828A>G	XP_016879027.1:p.Ile610Val
XR_429725.3:n.2425-3307A>G
XR_429726.3:n.2424+4245A>G
XR_933387.2:n.2484A>G
NM_001293557.2:c.2413A>G	NP_001280486.1:p.Ile805Val
NM_001370466.1:c.2413A>G MANE Select	NP_001357395.1:p.Ile805Val
NM_022162.3:c.2494A>G	NP_071445.1:p.Ile832Val
NR_163434.1:n.2625A>G