Canonical Allele Identifier: CA2633164338

Gene: NOD2

Linked Data

• gnomAD v4: 16-50722540-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722547_50722549del , CM000678.2:g.50722547_50722549del	GRCh38
NC_000016.9:g.50756458_50756460del , CM000678.1:g.50756458_50756460del	GRCh37
NC_000016.8:g.49313959_49313961del	NCBI36
NG_007508.1:g.30409_30411del , LRG_177:g.30409_30411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2382-7271_2382-7269del	ENSP00000493088.1:n.2382-7271_2382-7269del
ENST00000646677.2:c.*399-75_*399-73del	ENSP00000496533.1:n.*399-75_*399-73del
ENST00000697425.1:c.461-75_461-73del
ENST00000697426.1:c.349-75_349-73del
ENST00000697427.1:c.265-75_265-73del
ENST00000697428.1:n.2112-75_2112-73del
ENST00000641284.1:c.2382-7271_2382-7269del	ENSP00000493088.1:n.2382-7271_2382-7269del
ENST00000646677.1:c.*399-75_*399-73del	ENSP00000496533.1:n.*399-75_*399-73del
ENST00000647318.2:c.2634-75_2634-73del MANE Select	ENSP00000495993.1:n.2634-75_2634-73del
ENST00000300589.6:c.2715-75_2715-73del	ENSP00000300589.2:n.2715-75_2715-73del
ENST00000524712.5:c.209-75_209-73del
ENST00000527052.5:c.181-75_181-73del
ENST00000529633.5:c.293-75_293-73del
ENST00000534057.1:c.349-75_349-73del
ENST00000534067.5:c.445-75_445-73del
NM_001293557.1:c.2634-75_2634-73del	NP_001280486.1:n.2634-75_2634-73del
NM_022162.2:c.2715-75_2715-73del	NP_071445.1:n.2715-75_2715-73del
XM_005256084.2:c.2634-75_2634-73del	XP_005256141.1:n.2634-75_2634-73del
XM_006721242.2:c.2550-75_2550-73del	XP_006721305.1:n.2550-75_2550-73del
XM_011523257.1:c.2211-75_2211-73del	XP_011521559.1:n.2211-75_2211-73del
XM_011523258.1:c.2211-75_2211-73del	XP_011521560.1:n.2211-75_2211-73del
XM_011523259.1:c.2049-75_2049-73del	XP_011521561.1:n.2049-75_2049-73del
XR_429725.2:n.2556-75_2556-73del
XR_429726.2:n.2472-75_2472-73del
XR_933387.1:n.2752-75_2752-73del
XM_005256084.4:c.2634-75_2634-73del	XP_005256141.1:n.2634-75_2634-73del
XM_006721242.4:c.2550-75_2550-73del	XP_006721305.1:n.2550-75_2550-73del
XM_011523259.2:c.2049-75_2049-73del	XP_011521561.1:n.2049-75_2049-73del
XM_017023535.1:c.2142-75_2142-73del	XP_016879024.1:n.2142-75_2142-73del
XM_017023536.1:c.2049-75_2049-73del	XP_016879025.1:n.2049-75_2049-73del
XM_017023537.1:c.2049-75_2049-73del	XP_016879026.1:n.2049-75_2049-73del
XM_017023538.1:c.2049-75_2049-73del	XP_016879027.1:n.2049-75_2049-73del
XR_429725.3:n.2509-75_2509-73del
XR_429726.3:n.2425-75_2425-73del
XR_933387.2:n.2705-75_2705-73del
NM_001293557.2:c.2634-75_2634-73del	NP_001280486.1:n.2634-75_2634-73del
NM_001370466.1:c.2634-75_2634-73del MANE Select	NP_001357395.1:n.2634-75_2634-73del
NM_022162.3:c.2715-75_2715-73del	NP_071445.1:n.2715-75_2715-73del
NR_163434.1:n.2846-75_2846-73del