Canonical Allele Identifier: CA2633164371

Gene: NOD2

Linked Data

• gnomAD v4: 16-50722646-CGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722648_50722650del , CM000678.2:g.50722648_50722650del	GRCh38
NC_000016.9:g.50756559_50756561del , CM000678.1:g.50756559_50756561del	GRCh37
NC_000016.8:g.49314060_49314062del	NCBI36
NG_007508.1:g.30510_30512del , LRG_177:g.30510_30512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7170_2382-7168del	ENSP00000493088.1:n.2382-7170_2382-7168del
ENST00000646677.2:c.*425_*427del	ENSP00000496533.1:n.*425_*427del
ENST00000697425.1:c.487_489del
ENST00000697426.1:c.375_377del
ENST00000697427.1:c.291_293del
ENST00000697428.1:n.2138_2140del
ENST00000641284.1:c.2382-7170_2382-7168del	ENSP00000493088.1:n.2382-7170_2382-7168del
ENST00000646677.1:c.*425_*427del	ENSP00000496533.1:n.*425_*427del
ENST00000647318.2:c.2660_2662del MANE Select	ENSP00000495993.1:p.Glu887del
ENST00000300589.6:c.2741_2743del	ENSP00000300589.2:p.Glu914del
ENST00000524712.5:c.235_237del
ENST00000527052.5:c.207_209del
ENST00000529633.5:c.319_321del
ENST00000534057.1:c.375_377del
ENST00000534067.5:c.471_473del
NM_001293557.1:c.2660_2662del	NP_001280486.1:p.Glu887del
NM_022162.2:c.2741_2743del	NP_071445.1:p.Glu914del
XM_005256084.2:c.2660_2662del	XP_005256141.1:p.Glu887del
XM_006721242.2:c.2576_2578del	XP_006721305.1:p.Glu859del
XM_011523257.1:c.2237_2239del	XP_011521559.1:p.Glu746del
XM_011523258.1:c.2237_2239del	XP_011521560.1:p.Glu746del
XM_011523259.1:c.2075_2077del	XP_011521561.1:p.Glu692del
XR_429725.2:n.2582_2584del
XR_429726.2:n.2498_2500del
XR_933387.1:n.2778_2780del
XM_005256084.4:c.2660_2662del	XP_005256141.1:p.Glu887del
XM_006721242.4:c.2576_2578del	XP_006721305.1:p.Glu859del
XM_011523259.2:c.2075_2077del	XP_011521561.1:p.Glu692del
XM_017023535.1:c.2168_2170del	XP_016879024.1:p.Glu723del
XM_017023536.1:c.2075_2077del	XP_016879025.1:p.Glu692del
XM_017023537.1:c.2075_2077del	XP_016879026.1:p.Glu692del
XM_017023538.1:c.2075_2077del	XP_016879027.1:p.Glu692del
XR_429725.3:n.2535_2537del
XR_429726.3:n.2451_2453del
XR_933387.2:n.2731_2733del
NM_001293557.2:c.2660_2662del	NP_001280486.1:p.Glu887del
NM_001370466.1:c.2660_2662del MANE Select	NP_001357395.1:p.Glu887del
NM_022162.3:c.2741_2743del	NP_071445.1:p.Glu914del
NR_163434.1:n.2872_2874del