Canonical Allele Identifier: CA8051801

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50716612C>T , CM000678.2:g.50716612C>T	GRCh38
NC_000016.9:g.50750523C>T , CM000678.1:g.50750523C>T	GRCh37
NC_000016.8:g.49308024C>T	NCBI36
NG_007508.1:g.24474C>T , LRG_177:g.24474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2381+4239C>T	ENSP00000493088.1:n.2381+4239C>T
ENST00000646677.2:c.*172C>T	ENSP00000496533.1:n.*172C>T
ENST00000697425.1:c.234C>T
ENST00000697426.1:c.206C>T
ENST00000697427.1:c.181-3313C>T
ENST00000697428.1:n.1885C>T
ENST00000641284.1:c.2381+4239C>T	ENSP00000493088.1:n.2381+4239C>T
ENST00000646677.1:c.*172C>T	ENSP00000496533.1:n.*172C>T
ENST00000647318.2:c.2407C>T MANE Select	ENSP00000495993.1:p.Arg803Ter
ENST00000300589.6:c.2488C>T	ENSP00000300589.2:p.Arg830Ter
ENST00000524712.5:c.208+4211C>T
ENST00000527052.5:c.180+4239C>T
ENST00000529633.5:c.209-3313C>T
ENST00000534057.1:c.206C>T
ENST00000534067.5:c.444+3975C>T
NM_001293557.1:c.2407C>T	NP_001280486.1:p.Arg803Ter
NM_022162.2:c.2488C>T	NP_071445.1:p.Arg830Ter
XM_005256084.2:c.2407C>T	XP_005256141.1:p.Arg803Ter
XM_006721242.2:c.2407C>T	XP_006721305.1:p.Arg803Ter
XM_011523257.1:c.1984C>T	XP_011521559.1:p.Arg662Ter
XM_011523258.1:c.1984C>T	XP_011521560.1:p.Arg662Ter
XM_011523259.1:c.1822C>T	XP_011521561.1:p.Arg608Ter
XR_429725.2:n.2472-3313C>T
XR_429726.2:n.2471+4239C>T
XR_933387.1:n.2525C>T
XM_005256084.4:c.2407C>T	XP_005256141.1:p.Arg803Ter
XM_006721242.4:c.2407C>T	XP_006721305.1:p.Arg803Ter
XM_011523259.2:c.1822C>T	XP_011521561.1:p.Arg608Ter
XM_017023535.1:c.1915C>T	XP_016879024.1:p.Arg639Ter
XM_017023536.1:c.1822C>T	XP_016879025.1:p.Arg608Ter
XM_017023537.1:c.1822C>T	XP_016879026.1:p.Arg608Ter
XM_017023538.1:c.1822C>T	XP_016879027.1:p.Arg608Ter
XR_429725.3:n.2425-3313C>T
XR_429726.3:n.2424+4239C>T
XR_933387.2:n.2478C>T
NM_001293557.2:c.2407C>T	NP_001280486.1:p.Arg803Ter
NM_001370466.1:c.2407C>T MANE Select	NP_001357395.1:p.Arg803Ter
NM_022162.3:c.2488C>T	NP_071445.1:p.Arg830Ter
NR_163434.1:n.2619C>T