Canonical Allele Identifier: CA281275971

Gene: NOD2

Linked Data

• dbSNP Id: rs981541367
• gnomAD v3: 16-50722956-ATTT-A
• gnomAD v4: 16-50722956-ATTT-A
• MyVariant Identifiers: chr16:g.50756868_50756870del (hg19) ; chr16:g.50722957_50722959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722958_50722960del , CM000678.2:g.50722958_50722960del	GRCh38
NC_000016.9:g.50756869_50756871del , CM000678.1:g.50756869_50756871del	GRCh37
NC_000016.8:g.49314370_49314372del	NCBI36
NG_007508.1:g.30820_30822del , LRG_177:g.30820_30822del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.2382-6860_2382-6858del	ENSP00000493088.1:n.2382-6860_2382-6858de...
ENST00000646677.2:c.*482+253_*482+255del	ENSP00000496533.1:n.*482+253_*482+255del
ENST00000697425.1:c.544+253_544+255del
ENST00000697426.1:c.432+253_432+255del
ENST00000697427.1:c.348+253_348+255del
ENST00000697428.1:n.2195+253_2195+255del
ENST00000641284.1:c.2382-6860_2382-6858del	ENSP00000493088.1:n.2382-6860_2382-6858de...
ENST00000646677.1:c.*482+253_*482+255del	ENSP00000496533.1:n.*482+253_*482+255del
ENST00000647318.2:c.2717+253_2717+255del MANE Select	ENSP00000495993.1:n.2717+253_2717+255del
ENST00000300589.6:c.2798+253_2798+255del	ENSP00000300589.2:n.2798+253_2798+255del
ENST00000524712.5:c.292+253_292+255del
ENST00000527052.5:c.264+253_264+255del
ENST00000529633.5:c.376+253_376+255del
ENST00000534057.1:c.432+253_432+255del
ENST00000534067.5:c.528+253_528+255del
NM_001293557.1:c.2717+253_2717+255del	NP_001280486.1:n.2717+253_2717+255del
NM_022162.2:c.2798+253_2798+255del	NP_071445.1:n.2798+253_2798+255del
XM_005256084.2:c.2717+253_2717+255del	XP_005256141.1:n.2717+253_2717+255del
XM_006721242.2:c.2633+253_2633+255del	XP_006721305.1:n.2633+253_2633+255del
XM_011523257.1:c.2294+253_2294+255del	XP_011521559.1:n.2294+253_2294+255del
XM_011523258.1:c.2294+253_2294+255del	XP_011521560.1:n.2294+253_2294+255del
XM_011523259.1:c.2132+253_2132+255del	XP_011521561.1:n.2132+253_2132+255del
XR_429725.2:n.2639+253_2639+255del
XR_429726.2:n.2555+253_2555+255del
XR_933387.1:n.2835+253_2835+255del
XM_005256084.4:c.2717+253_2717+255del	XP_005256141.1:n.2717+253_2717+255del
XM_006721242.4:c.2633+253_2633+255del	XP_006721305.1:n.2633+253_2633+255del
XM_011523259.2:c.2132+253_2132+255del	XP_011521561.1:n.2132+253_2132+255del
XM_017023535.1:c.2225+253_2225+255del	XP_016879024.1:n.2225+253_2225+255del
XM_017023536.1:c.2132+253_2132+255del	XP_016879025.1:n.2132+253_2132+255del
XM_017023537.1:c.2132+253_2132+255del	XP_016879026.1:n.2132+253_2132+255del
XM_017023538.1:c.2132+253_2132+255del	XP_016879027.1:n.2132+253_2132+255del
XR_429725.3:n.2592+253_2592+255del
XR_429726.3:n.2508+253_2508+255del
XR_933387.2:n.2788+253_2788+255del
NM_001293557.2:c.2717+253_2717+255del	NP_001280486.1:n.2717+253_2717+255del
NM_001370466.1:c.2717+253_2717+255del MANE Select	NP_001357395.1:n.2717+253_2717+255del
NM_022162.3:c.2798+253_2798+255del	NP_071445.1:n.2798+253_2798+255del
NR_163434.1:n.2929+253_2929+255del