Canonical Allele Identifier: CA2633165189

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712541A>T , CM000678.2:g.50712541A>T	GRCh38
NC_000016.9:g.50746452A>T , CM000678.1:g.50746452A>T	GRCh37
NC_000016.8:g.49303953A>T	NCBI36
NG_007508.1:g.20403A>T , LRG_177:g.20403A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001370466.1:c.2381+168A>T MANE Select	NP_001357395.1:n.2381+168A>T
ENST00000647318.2:c.2381+168A>T MANE Select	ENSP00000495993.1:n.2381+168A>T
NM_001293557.1:c.2381+168A>T	NP_001280486.1:n.2381+168A>T
NM_001293557.2:c.2381+168A>T	NP_001280486.1:n.2381+168A>T
NM_022162.2:c.2462+168A>T	NP_071445.1:n.2462+168A>T
NM_022162.3:c.2462+168A>T	NP_071445.1:n.2462+168A>T
NR_163434.1:n.2446+168A>T
ENST00000300589.6:c.2462+168A>T	ENSP00000300589.2:n.2462+168A>T
ENST00000524712.5:c.208+140A>T
ENST00000527052.5:c.180+168A>T
ENST00000529633.5:c.208+140A>T
ENST00000534057.1:c.180+168A>T
ENST00000534067.5:c.348A>T
ENST00000641284.1:c.2381+168A>T	ENSP00000493088.1:n.2381+168A>T
ENST00000641284.2:c.2381+168A>T	ENSP00000493088.1:n.2381+168A>T
ENST00000646677.1:c.2381+168A>T	ENSP00000496533.1:n.2381+168A>T
ENST00000646677.2:c.2381+168A>T	ENSP00000496533.1:n.2381+168A>T
ENST00000697425.1:c.208+140A>T
ENST00000697426.1:c.180+168A>T
ENST00000697427.1:c.180+168A>T
XM_005256084.2:c.2381+168A>T	XP_005256141.1:n.2381+168A>T
XM_005256084.4:c.2381+168A>T	XP_005256141.1:n.2381+168A>T
XM_006721242.2:c.2381+168A>T	XP_006721305.1:n.2381+168A>T
XM_006721242.4:c.2381+168A>T	XP_006721305.1:n.2381+168A>T
XM_006721243.2:c.2381+168A>T	XP_006721306.1:n.2381+168A>T
XM_006721243.4:c.2381+168A>T	XP_006721306.1:n.2381+168A>T
XM_011523257.1:c.1958+168A>T	XP_011521559.1:n.1958+168A>T
XM_011523258.1:c.1958+168A>T	XP_011521560.1:n.1958+168A>T
XM_011523259.1:c.1796+168A>T	XP_011521561.1:n.1796+168A>T
XM_011523259.2:c.1796+168A>T	XP_011521561.1:n.1796+168A>T
XM_011523260.1:c.*27+140A>T	XP_011521562.1:n.*27+140A>T
XM_011523260.3:c.*27+140A>T	XP_011521562.1:n.*27+140A>T
XM_011523261.1:c.2381+168A>T	XP_011521563.1:n.2381+168A>T
XM_011523261.2:c.2381+168A>T	XP_011521563.1:n.2381+168A>T
XM_017023535.1:c.1889+168A>T	XP_016879024.1:n.1889+168A>T
XM_017023536.1:c.1796+168A>T	XP_016879025.1:n.1796+168A>T
XM_017023537.1:c.1796+168A>T	XP_016879026.1:n.1796+168A>T
XM_017023538.1:c.1796+168A>T	XP_016879027.1:n.1796+168A>T
XR_429725.2:n.2471+168A>T
XR_429725.3:n.2424+168A>T
XR_429726.2:n.2471+168A>T
XR_429726.3:n.2424+168A>T
XR_933387.1:n.2499+140A>T
XR_933387.2:n.2452+140A>T