Canonical Allele Identifier: CA150302

Gene: NOD2

Linked Data

• ClinVar Variation Id: 97866
• ClinVar RCV Id: RCV000320195 ; RCV001509517 ; RCV002513885 ; RCV001781426 ; RCV003964950 ; RCV002260986
• dbSNP Id: rs104895452
• ExAC: 16:50756571 C / A
• gnomAD v2: 16-50756571-C-A
• gnomAD v3: 16-50722660-C-A
• gnomAD v4: 16-50722660-C-A
• MyVariant Identifiers: chr16:g.50756571C>A (hg19) ; chr16:g.50722660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722660C>A , CM000678.2:g.50722660C>A	GRCh38
NC_000016.9:g.50756571C>A , CM000678.1:g.50756571C>A	GRCh37
NC_000016.8:g.49314072C>A	NCBI36
NG_007508.1:g.30522C>A , LRG_177:g.30522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7158C>A	ENSP00000493088.1:n.2382-7158C>A
ENST00000646677.2:c.*437C>A	ENSP00000496533.1:n.*437C>A
ENST00000697425.1:c.499C>A
ENST00000697426.1:c.387C>A
ENST00000697427.1:c.303C>A
ENST00000697428.1:n.2150C>A
ENST00000641284.1:c.2382-7158C>A	ENSP00000493088.1:n.2382-7158C>A
ENST00000646677.1:c.*437C>A	ENSP00000496533.1:n.*437C>A
ENST00000647318.2:c.2672C>A MANE Select	ENSP00000495993.1:p.Ala891Asp
ENST00000300589.6:c.2753C>A	ENSP00000300589.2:p.Ala918Asp
ENST00000524712.5:c.247C>A
ENST00000527052.5:c.219C>A
ENST00000529633.5:c.331C>A
ENST00000534057.1:c.387C>A
ENST00000534067.5:c.483C>A
NM_001293557.1:c.2672C>A	NP_001280486.1:p.Ala891Asp
NM_022162.2:c.2753C>A	NP_071445.1:p.Ala918Asp
XM_005256084.2:c.2672C>A	XP_005256141.1:p.Ala891Asp
XM_006721242.2:c.2588C>A	XP_006721305.1:p.Ala863Asp
XM_011523257.1:c.2249C>A	XP_011521559.1:p.Ala750Asp
XM_011523258.1:c.2249C>A	XP_011521560.1:p.Ala750Asp
XM_011523259.1:c.2087C>A	XP_011521561.1:p.Ala696Asp
XR_429725.2:n.2594C>A
XR_429726.2:n.2510C>A
XR_933387.1:n.2790C>A
XM_005256084.4:c.2672C>A	XP_005256141.1:p.Ala891Asp
XM_006721242.4:c.2588C>A	XP_006721305.1:p.Ala863Asp
XM_011523259.2:c.2087C>A	XP_011521561.1:p.Ala696Asp
XM_017023535.1:c.2180C>A	XP_016879024.1:p.Ala727Asp
XM_017023536.1:c.2087C>A	XP_016879025.1:p.Ala696Asp
XM_017023537.1:c.2087C>A	XP_016879026.1:p.Ala696Asp
XM_017023538.1:c.2087C>A	XP_016879027.1:p.Ala696Asp
XR_429725.3:n.2547C>A
XR_429726.3:n.2463C>A
XR_933387.2:n.2743C>A
NM_001293557.2:c.2672C>A	NP_001280486.1:p.Ala891Asp
NM_001370466.1:c.2672C>A MANE Select	NP_001357395.1:p.Ala891Asp
NM_022162.3:c.2753C>A	NP_071445.1:p.Ala918Asp
NR_163434.1:n.2884C>A