Canonical Allele Identifier: CA3000294914

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50723000del , CM000678.2:g.50723000del	GRCh38
NC_000016.9:g.50756911del , CM000678.1:g.50756911del	GRCh37
NC_000016.8:g.49314412del	NCBI36
NG_007508.1:g.30862del , LRG_177:g.30862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-6818del	ENSP00000493088.1:n.2382-6818del
ENST00000646677.2:c.*482+295del	ENSP00000496533.1:n.*482+295del
ENST00000697425.1:c.544+295del
ENST00000697426.1:c.432+295del
ENST00000697427.1:c.348+295del
ENST00000697428.1:n.2195+295del
ENST00000641284.1:c.2382-6818del	ENSP00000493088.1:n.2382-6818del
ENST00000646677.1:c.*482+295del	ENSP00000496533.1:n.*482+295del
ENST00000647318.2:c.2717+295del MANE Select	ENSP00000495993.1:n.2717+295del
ENST00000300589.6:c.2798+295del	ENSP00000300589.2:n.2798+295del
ENST00000524712.5:c.292+295del
ENST00000527052.5:c.264+295del
ENST00000529633.5:c.376+295del
ENST00000534057.1:c.432+295del
ENST00000534067.5:c.528+295del
NM_001293557.1:c.2717+295del	NP_001280486.1:n.2717+295del
NM_022162.2:c.2798+295del	NP_071445.1:n.2798+295del
XM_005256084.2:c.2717+295del	XP_005256141.1:n.2717+295del
XM_006721242.2:c.2633+295del	XP_006721305.1:n.2633+295del
XM_011523257.1:c.2294+295del	XP_011521559.1:n.2294+295del
XM_011523258.1:c.2294+295del	XP_011521560.1:n.2294+295del
XM_011523259.1:c.2132+295del	XP_011521561.1:n.2132+295del
XR_429725.2:n.2639+295del
XR_429726.2:n.2555+295del
XR_933387.1:n.2835+295del
XM_005256084.4:c.2717+295del	XP_005256141.1:n.2717+295del
XM_006721242.4:c.2633+295del	XP_006721305.1:n.2633+295del
XM_011523259.2:c.2132+295del	XP_011521561.1:n.2132+295del
XM_017023535.1:c.2225+295del	XP_016879024.1:n.2225+295del
XM_017023536.1:c.2132+295del	XP_016879025.1:n.2132+295del
XM_017023537.1:c.2132+295del	XP_016879026.1:n.2132+295del
XM_017023538.1:c.2132+295del	XP_016879027.1:n.2132+295del
XR_429725.3:n.2592+295del
XR_429726.3:n.2508+295del
XR_933387.2:n.2788+295del
NM_001293557.2:c.2717+295del	NP_001280486.1:n.2717+295del
NM_001370466.1:c.2717+295del MANE Select	NP_001357395.1:n.2717+295del
NM_022162.3:c.2798+295del	NP_071445.1:n.2798+295del
NR_163434.1:n.2929+295del