Canonical Allele Identifier: CA395875115

Gene: NOD2

Linked Data

• ClinVar Variation Id: 2929588
• ClinVar RCV Id: RCV003784754
• dbSNP Id: rs778408661
• gnomAD v3: 16-50722653-G-A
• gnomAD v4: 16-50722653-G-A
• MyVariant Identifiers: chr16:g.50756564G>A (hg19) ; chr16:g.50722653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722653G>A , CM000678.2:g.50722653G>A	GRCh38
NC_000016.9:g.50756564G>A , CM000678.1:g.50756564G>A	GRCh37
NC_000016.8:g.49314065G>A	NCBI36
NG_007508.1:g.30515G>A , LRG_177:g.30515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7165G>A	ENSP00000493088.1:n.2382-7165G>A
ENST00000646677.2:c.*430G>A	ENSP00000496533.1:n.*430G>A
ENST00000697425.1:c.492G>A
ENST00000697426.1:c.380G>A
ENST00000697427.1:c.296G>A
ENST00000697428.1:n.2143G>A
ENST00000641284.1:c.2382-7165G>A	ENSP00000493088.1:n.2382-7165G>A
ENST00000646677.1:c.*430G>A	ENSP00000496533.1:n.*430G>A
ENST00000647318.2:c.2665G>A MANE Select	ENSP00000495993.1:p.Ala889Thr
ENST00000300589.6:c.2746G>A	ENSP00000300589.2:p.Ala916Thr
ENST00000524712.5:c.240G>A
ENST00000527052.5:c.212G>A
ENST00000529633.5:c.324G>A
ENST00000534057.1:c.380G>A
ENST00000534067.5:c.476G>A
NM_001293557.1:c.2665G>A	NP_001280486.1:p.Ala889Thr
NM_022162.2:c.2746G>A	NP_071445.1:p.Ala916Thr
XM_005256084.2:c.2665G>A	XP_005256141.1:p.Ala889Thr
XM_006721242.2:c.2581G>A	XP_006721305.1:p.Ala861Thr
XM_011523257.1:c.2242G>A	XP_011521559.1:p.Ala748Thr
XM_011523258.1:c.2242G>A	XP_011521560.1:p.Ala748Thr
XM_011523259.1:c.2080G>A	XP_011521561.1:p.Ala694Thr
XR_429725.2:n.2587G>A
XR_429726.2:n.2503G>A
XR_933387.1:n.2783G>A
XM_005256084.4:c.2665G>A	XP_005256141.1:p.Ala889Thr
XM_006721242.4:c.2581G>A	XP_006721305.1:p.Ala861Thr
XM_011523259.2:c.2080G>A	XP_011521561.1:p.Ala694Thr
XM_017023535.1:c.2173G>A	XP_016879024.1:p.Ala725Thr
XM_017023536.1:c.2080G>A	XP_016879025.1:p.Ala694Thr
XM_017023537.1:c.2080G>A	XP_016879026.1:p.Ala694Thr
XM_017023538.1:c.2080G>A	XP_016879027.1:p.Ala694Thr
XR_429725.3:n.2540G>A
XR_429726.3:n.2456G>A
XR_933387.2:n.2736G>A
NM_001293557.2:c.2665G>A	NP_001280486.1:p.Ala889Thr
NM_001370466.1:c.2665G>A MANE Select	NP_001357395.1:p.Ala889Thr
NM_022162.3:c.2746G>A	NP_071445.1:p.Ala916Thr
NR_163434.1:n.2877G>A