Canonical Allele Identifier: CA8051915

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50719961A>C , CM000678.2:g.50719961A>C	GRCh38
NC_000016.9:g.50753872A>C , CM000678.1:g.50753872A>C	GRCh37
NC_000016.8:g.49311373A>C	NCBI36
NG_007508.1:g.27823A>C , LRG_177:g.27823A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2586A>C MANE Select	NP_001357395.1:p.Gln862His
ENST00000647318.2:c.2586A>C MANE Select	ENSP00000495993.1:p.Gln862His
NM_001293557.1:c.2586A>C	NP_001280486.1:p.Gln862His
NM_001293557.2:c.2586A>C	NP_001280486.1:p.Gln862His
NM_022162.2:c.2667A>C	NP_071445.1:p.Gln889His
NM_022162.3:c.2667A>C	NP_071445.1:p.Gln889His
NR_163434.1:n.2798A>C
ENST00000300589.6:c.2667A>C	ENSP00000300589.2:p.Gln889His
ENST00000524712.5:c.209-2661A>C
ENST00000527052.5:c.181-2661A>C
ENST00000529633.5:c.245A>C
ENST00000534057.1:c.301A>C
ENST00000534067.5:c.445-2661A>C
ENST00000641284.1:c.2381+7588A>C	ENSP00000493088.1:n.2381+7588A>C
ENST00000641284.2:c.2381+7588A>C	ENSP00000493088.1:n.2381+7588A>C
ENST00000646677.1:c.*351A>C	ENSP00000496533.1:n.*351A>C
ENST00000646677.2:c.*351A>C	ENSP00000496533.1:n.*351A>C
ENST00000697425.1:c.413A>C
ENST00000697426.1:c.349-2661A>C
ENST00000697427.1:c.217A>C
ENST00000697428.1:n.2064A>C
XM_005256084.2:c.2586A>C	XP_005256141.1:p.Gln862His
XM_005256084.4:c.2586A>C	XP_005256141.1:p.Gln862His
XM_006721242.2:c.2550-2661A>C	XP_006721305.1:n.2550-2661A>C
XM_006721242.4:c.2550-2661A>C	XP_006721305.1:n.2550-2661A>C
XM_011523257.1:c.2163A>C	XP_011521559.1:p.Gln721His
XM_011523258.1:c.2163A>C	XP_011521560.1:p.Gln721His
XM_011523259.1:c.2001A>C	XP_011521561.1:p.Gln667His
XM_011523259.2:c.2001A>C	XP_011521561.1:p.Gln667His
XM_017023535.1:c.2094A>C	XP_016879024.1:p.Gln698His
XM_017023536.1:c.2001A>C	XP_016879025.1:p.Gln667His
XM_017023537.1:c.2001A>C	XP_016879026.1:p.Gln667His
XM_017023538.1:c.2001A>C	XP_016879027.1:p.Gln667His
XR_429725.2:n.2508A>C
XR_429725.3:n.2461A>C
XR_429726.2:n.2472-2661A>C
XR_429726.3:n.2425-2661A>C
XR_933387.1:n.2704A>C
XR_933387.2:n.2657A>C