Canonical Allele Identifier: CA8051959

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50722647G>A , CM000678.2:g.50722647G>A	GRCh38
NC_000016.9:g.50756558G>A , CM000678.1:g.50756558G>A	GRCh37
NC_000016.8:g.49314059G>A	NCBI36
NG_007508.1:g.30509G>A , LRG_177:g.30509G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2659G>A MANE Select	NP_001357395.1:p.Glu887Lys
ENST00000647318.2:c.2659G>A MANE Select	ENSP00000495993.1:p.Glu887Lys
NM_001293557.1:c.2659G>A	NP_001280486.1:p.Glu887Lys
NM_001293557.2:c.2659G>A	NP_001280486.1:p.Glu887Lys
NM_022162.2:c.2740G>A	NP_071445.1:p.Glu914Lys
NM_022162.3:c.2740G>A	NP_071445.1:p.Glu914Lys
NR_163434.1:n.2871G>A
ENST00000300589.6:c.2740G>A	ENSP00000300589.2:p.Glu914Lys
ENST00000524712.5:c.234G>A
ENST00000527052.5:c.206G>A
ENST00000529633.5:c.318G>A
ENST00000534057.1:c.374G>A
ENST00000534067.5:c.470G>A
ENST00000641284.1:c.2382-7171G>A	ENSP00000493088.1:n.2382-7171G>A
ENST00000641284.2:c.2382-7171G>A	ENSP00000493088.1:n.2382-7171G>A
ENST00000646677.1:c.*424G>A	ENSP00000496533.1:n.*424G>A
ENST00000646677.2:c.*424G>A	ENSP00000496533.1:n.*424G>A
ENST00000697425.1:c.486G>A
ENST00000697426.1:c.374G>A
ENST00000697427.1:c.290G>A
ENST00000697428.1:n.2137G>A
XM_005256084.2:c.2659G>A	XP_005256141.1:p.Glu887Lys
XM_005256084.4:c.2659G>A	XP_005256141.1:p.Glu887Lys
XM_006721242.2:c.2575G>A	XP_006721305.1:p.Glu859Lys
XM_006721242.4:c.2575G>A	XP_006721305.1:p.Glu859Lys
XM_011523257.1:c.2236G>A	XP_011521559.1:p.Glu746Lys
XM_011523258.1:c.2236G>A	XP_011521560.1:p.Glu746Lys
XM_011523259.1:c.2074G>A	XP_011521561.1:p.Glu692Lys
XM_011523259.2:c.2074G>A	XP_011521561.1:p.Glu692Lys
XM_017023535.1:c.2167G>A	XP_016879024.1:p.Glu723Lys
XM_017023536.1:c.2074G>A	XP_016879025.1:p.Glu692Lys
XM_017023537.1:c.2074G>A	XP_016879026.1:p.Glu692Lys
XM_017023538.1:c.2074G>A	XP_016879027.1:p.Glu692Lys
XR_429725.2:n.2581G>A
XR_429725.3:n.2534G>A
XR_429726.2:n.2497G>A
XR_429726.3:n.2450G>A
XR_933387.1:n.2777G>A
XR_933387.2:n.2730G>A