Canonical Allele Identifier: CA2221862121

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711811_50711830delinsAGGCCAGGCAACTCACCAAT , CM000678.2:g.50711811_50711830delinsAGGCCAGGCAACTCACCAAT	GRCh38
NC_000016.9:g.50745722_50745741delinsAGGCCAGGCAACTCACCAAT , CM000678.1:g.50745722_50745741delinsAGGCCAGGCAACTCACCAAT	GRCh37
NC_000016.8:g.49303223_49303242delinsAGGCCAGGCAACTCACCAAT	NCBI36
NG_007508.1:g.19673_19692delinsAGGCCAGGCAACTCACCAAT , LRG_177:g.19673_19692delinsAGGCCAGGCAACTCACCAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	ENSP00000493088.1:p.Arg607=
ENST00000646677.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	ENSP00000496533.1:p.Arg607=
ENST00000641284.1:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	ENSP00000493088.1:p.Arg607=
ENST00000646677.1:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	ENSP00000496533.1:p.Arg607=
ENST00000647318.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT MANE Select	ENSP00000495993.1:p.Arg607=
ENST00000300589.6:c.1900_1919delinsAGGCCAGGCAACTCACCAAT	ENSP00000300589.2:p.Arg634=
NM_001293557.1:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	NP_001280486.1:p.Arg607=
NM_022162.2:c.1900_1919delinsAGGCCAGGCAACTCACCAAT	NP_071445.1:p.Arg634=
XM_005256084.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_005256141.1:p.Arg607=
XM_006721242.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_006721305.1:p.Arg607=
XM_006721243.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_006721306.1:p.Arg607=
XM_011523257.1:c.1396_1415delinsAGGCCAGGCAACTCACCAAT	XP_011521559.1:p.Arg466=
XM_011523258.1:c.1396_1415delinsAGGCCAGGCAACTCACCAAT	XP_011521560.1:p.Arg466=
XM_011523259.1:c.1234_1253delinsAGGCCAGGCAACTCACCAAT	XP_011521561.1:p.Arg412=
XM_011523260.1:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_011521562.1:p.Arg607=
XM_011523261.1:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_011521563.1:p.Arg607=
XR_429725.2:n.1909_1928delinsAGGCCAGGCAACTCACCAAT
XR_429726.2:n.1909_1928delinsAGGCCAGGCAACTCACCAAT
XR_933387.1:n.1909_1928delinsAGGCCAGGCAACTCACCAAT
XM_005256084.4:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_005256141.1:p.Arg607=
XM_006721242.4:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_006721305.1:p.Arg607=
XM_006721243.4:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_006721306.1:p.Arg607=
XM_011523259.2:c.1234_1253delinsAGGCCAGGCAACTCACCAAT	XP_011521561.1:p.Arg412=
XM_011523260.3:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_011521562.1:p.Arg607=
XM_011523261.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	XP_011521563.1:p.Arg607=
XM_017023535.1:c.1327_1346delinsAGGCCAGGCAACTCACCAAT	XP_016879024.1:p.Arg443=
XM_017023536.1:c.1234_1253delinsAGGCCAGGCAACTCACCAAT	XP_016879025.1:p.Arg412=
XM_017023537.1:c.1234_1253delinsAGGCCAGGCAACTCACCAAT	XP_016879026.1:p.Arg412=
XM_017023538.1:c.1234_1253delinsAGGCCAGGCAACTCACCAAT	XP_016879027.1:p.Arg412=
XR_429725.3:n.1862_1881delinsAGGCCAGGCAACTCACCAAT
XR_429726.3:n.1862_1881delinsAGGCCAGGCAACTCACCAAT
XR_933387.2:n.1862_1881delinsAGGCCAGGCAACTCACCAAT
NM_001293557.2:c.1819_1838delinsAGGCCAGGCAACTCACCAAT	NP_001280486.1:p.Arg607=
NM_001370466.1:c.1819_1838delinsAGGCCAGGCAACTCACCAAT MANE Select	NP_001357395.1:p.Arg607=
NM_022162.3:c.1900_1919delinsAGGCCAGGCAACTCACCAAT	NP_071445.1:p.Arg634=
NR_163434.1:n.1884_1903delinsAGGCCAGGCAACTCACCAAT