Canonical Allele Identifier: CA2740093322

Gene: NOD2

Linked Data

• ClinVar Variation Id: 2939855
• ClinVar RCV Id: RCV003795021

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711843_50711844delinsAA , CM000678.2:g.50711843_50711844delinsAA	GRCh38
NC_000016.9:g.50745754_50745755delinsAA , CM000678.1:g.50745754_50745755delinsAA	GRCh37
NC_000016.8:g.49303255_49303256delinsAA	NCBI36
NG_007508.1:g.19705_19706delinsAA , LRG_177:g.19705_19706delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1851_1852delinsAA	ENSP00000493088.1:p.Pro618Thr
ENST00000646677.2:c.1851_1852delinsAA	ENSP00000496533.1:p.Pro618Thr
ENST00000641284.1:c.1851_1852delinsAA	ENSP00000493088.1:p.Pro618Thr
ENST00000646677.1:c.1851_1852delinsAA	ENSP00000496533.1:p.Pro618Thr
ENST00000647318.2:c.1851_1852delinsAA MANE Select	ENSP00000495993.1:p.Pro618Thr
ENST00000300589.6:c.1932_1933delinsAA	ENSP00000300589.2:p.Pro645Thr
NM_001293557.1:c.1851_1852delinsAA	NP_001280486.1:p.Pro618Thr
NM_022162.2:c.1932_1933delinsAA	NP_071445.1:p.Pro645Thr
XM_005256084.2:c.1851_1852delinsAA	XP_005256141.1:p.Pro618Thr
XM_006721242.2:c.1851_1852delinsAA	XP_006721305.1:p.Pro618Thr
XM_006721243.2:c.1851_1852delinsAA	XP_006721306.1:p.Pro618Thr
XM_011523257.1:c.1428_1429delinsAA	XP_011521559.1:p.Pro477Thr
XM_011523258.1:c.1428_1429delinsAA	XP_011521560.1:p.Pro477Thr
XM_011523259.1:c.1266_1267delinsAA	XP_011521561.1:p.Pro423Thr
XM_011523260.1:c.1851_1852delinsAA	XP_011521562.1:p.Pro618Thr
XM_011523261.1:c.1851_1852delinsAA	XP_011521563.1:p.Pro618Thr
XR_429725.2:n.1941_1942delinsAA
XR_429726.2:n.1941_1942delinsAA
XR_933387.1:n.1941_1942delinsAA
XM_005256084.4:c.1851_1852delinsAA	XP_005256141.1:p.Pro618Thr
XM_006721242.4:c.1851_1852delinsAA	XP_006721305.1:p.Pro618Thr
XM_006721243.4:c.1851_1852delinsAA	XP_006721306.1:p.Pro618Thr
XM_011523259.2:c.1266_1267delinsAA	XP_011521561.1:p.Pro423Thr
XM_011523260.3:c.1851_1852delinsAA	XP_011521562.1:p.Pro618Thr
XM_011523261.2:c.1851_1852delinsAA	XP_011521563.1:p.Pro618Thr
XM_017023535.1:c.1359_1360delinsAA	XP_016879024.1:p.Pro454Thr
XM_017023536.1:c.1266_1267delinsAA	XP_016879025.1:p.Pro423Thr
XM_017023537.1:c.1266_1267delinsAA	XP_016879026.1:p.Pro423Thr
XM_017023538.1:c.1266_1267delinsAA	XP_016879027.1:p.Pro423Thr
XR_429725.3:n.1894_1895delinsAA
XR_429726.3:n.1894_1895delinsAA
XR_933387.2:n.1894_1895delinsAA
NM_001293557.2:c.1851_1852delinsAA	NP_001280486.1:p.Pro618Thr
NM_001370466.1:c.1851_1852delinsAA MANE Select	NP_001357395.1:p.Pro618Thr
NM_022162.3:c.1932_1933delinsAA	NP_071445.1:p.Pro645Thr
NR_163434.1:n.1916_1917delinsAA