Canonical Allele Identifier: CA8051819

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50716671G>A , CM000678.2:g.50716671G>A	GRCh38
NC_000016.9:g.50750582G>A , CM000678.1:g.50750582G>A	GRCh37
NC_000016.8:g.49308083G>A	NCBI36
NG_007508.1:g.24533G>A , LRG_177:g.24533G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2465+1G>A MANE Select	NP_001357395.1:n.2465+1G>A
ENST00000647318.2:c.2465+1G>A MANE Select	ENSP00000495993.1:n.2465+1G>A
NM_001293557.1:c.2465+1G>A	NP_001280486.1:n.2465+1G>A
NM_001293557.2:c.2465+1G>A	NP_001280486.1:n.2465+1G>A
NM_022162.2:c.2546+1G>A	NP_071445.1:n.2546+1G>A
NM_022162.3:c.2546+1G>A	NP_071445.1:n.2546+1G>A
NR_163434.1:n.2677+1G>A
ENST00000300589.6:c.2546+1G>A	ENSP00000300589.2:n.2546+1G>A
ENST00000524712.5:c.208+4270G>A
ENST00000527052.5:c.180+4298G>A
ENST00000529633.5:c.209-3254G>A
ENST00000534057.1:c.264+1G>A
ENST00000534067.5:c.444+4034G>A
ENST00000641284.1:c.2381+4298G>A	ENSP00000493088.1:n.2381+4298G>A
ENST00000641284.2:c.2381+4298G>A	ENSP00000493088.1:n.2381+4298G>A
ENST00000646677.1:c.*230+1G>A	ENSP00000496533.1:n.*230+1G>A
ENST00000646677.2:c.*230+1G>A	ENSP00000496533.1:n.*230+1G>A
ENST00000697425.1:c.292+1G>A
ENST00000697426.1:c.264+1G>A
ENST00000697427.1:c.181-3254G>A
ENST00000697428.1:n.1943+1G>A
XM_005256084.2:c.2465+1G>A	XP_005256141.1:n.2465+1G>A
XM_005256084.4:c.2465+1G>A	XP_005256141.1:n.2465+1G>A
XM_006721242.2:c.2465+1G>A	XP_006721305.1:n.2465+1G>A
XM_006721242.4:c.2465+1G>A	XP_006721305.1:n.2465+1G>A
XM_011523257.1:c.2042+1G>A	XP_011521559.1:n.2042+1G>A
XM_011523258.1:c.2042+1G>A	XP_011521560.1:n.2042+1G>A
XM_011523259.1:c.1880+1G>A	XP_011521561.1:n.1880+1G>A
XM_011523259.2:c.1880+1G>A	XP_011521561.1:n.1880+1G>A
XM_017023535.1:c.1973+1G>A	XP_016879024.1:n.1973+1G>A
XM_017023536.1:c.1880+1G>A	XP_016879025.1:n.1880+1G>A
XM_017023537.1:c.1880+1G>A	XP_016879026.1:n.1880+1G>A
XM_017023538.1:c.1880+1G>A	XP_016879027.1:n.1880+1G>A
XR_429725.2:n.2472-3254G>A
XR_429725.3:n.2425-3254G>A
XR_429726.2:n.2471+4298G>A
XR_429726.3:n.2424+4298G>A
XR_933387.1:n.2583+1G>A
XR_933387.2:n.2536+1G>A