Canonical Allele Identifier: CA2838307269

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712333_50712334insC , CM000678.2:g.50712333_50712334insC	GRCh38
NC_000016.9:g.50746244_50746245insC , CM000678.1:g.50746244_50746245insC	GRCh37
NC_000016.8:g.49303745_49303746insC	NCBI36
NG_007508.1:g.20195_20196insC , LRG_177:g.20195_20196insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2341_2342insC	ENSP00000493088.1:p.Glu781AlafsTer18
ENST00000646677.2:c.2341_2342insC	ENSP00000496533.1:p.Glu781AlafsTer27
ENST00000697425.1:c.140_141insC
ENST00000697426.1:c.140_141insC
ENST00000697427.1:c.140_141insC
ENST00000641284.1:c.2341_2342insC	ENSP00000493088.1:p.Glu781AlafsTer18
ENST00000646677.1:c.2341_2342insC	ENSP00000496533.1:p.Glu781AlafsTer27
ENST00000647318.2:c.2341_2342insC MANE Select	ENSP00000495993.1:p.Glu781AlafsTer18
ENST00000300589.6:c.2422_2423insC	ENSP00000300589.2:p.Glu808AlafsTer18
ENST00000524712.5:c.140_141insC
ENST00000527052.5:c.140_141insC
ENST00000529633.5:c.140_141insC
ENST00000534057.1:c.140_141insC
ENST00000534067.5:c.140_141insC
NM_001293557.1:c.2341_2342insC	NP_001280486.1:p.Glu781AlafsTer18
NM_022162.2:c.2422_2423insC	NP_071445.1:p.Glu808AlafsTer18
XM_005256084.2:c.2341_2342insC	XP_005256141.1:p.Glu781AlafsTer18
XM_006721242.2:c.2341_2342insC	XP_006721305.1:p.Glu781AlafsTer18
XM_006721243.2:c.2341_2342insC	XP_006721306.1:p.Glu781AlafsTer23
XM_011523257.1:c.1918_1919insC	XP_011521559.1:p.Glu640AlafsTer18
XM_011523258.1:c.1918_1919insC	XP_011521560.1:p.Glu640AlafsTer18
XM_011523259.1:c.1756_1757insC	XP_011521561.1:p.Glu586AlafsTer18
XM_011523260.1:c.2341_2342insC	XP_011521562.1:p.Glu781AlafsTer?
XM_011523261.1:c.2341_2342insC	XP_011521563.1:p.Glu781AlafsTer30
XR_429725.2:n.2431_2432insC
XR_429726.2:n.2431_2432insC
XR_933387.1:n.2431_2432insC
XM_005256084.4:c.2341_2342insC	XP_005256141.1:p.Glu781AlafsTer18
XM_006721242.4:c.2341_2342insC	XP_006721305.1:p.Glu781AlafsTer18
XM_006721243.4:c.2341_2342insC	XP_006721306.1:p.Glu781AlafsTer23
XM_011523259.2:c.1756_1757insC	XP_011521561.1:p.Glu586AlafsTer18
XM_011523260.3:c.2341_2342insC	XP_011521562.1:p.Glu781AlafsTer?
XM_011523261.2:c.2341_2342insC	XP_011521563.1:p.Glu781AlafsTer30
XM_017023535.1:c.1849_1850insC	XP_016879024.1:p.Glu617AlafsTer18
XM_017023536.1:c.1756_1757insC	XP_016879025.1:p.Glu586AlafsTer18
XM_017023537.1:c.1756_1757insC	XP_016879026.1:p.Glu586AlafsTer18
XM_017023538.1:c.1756_1757insC	XP_016879027.1:p.Glu586AlafsTer18
XR_429725.3:n.2384_2385insC
XR_429726.3:n.2384_2385insC
XR_933387.2:n.2384_2385insC
NM_001293557.2:c.2341_2342insC	NP_001280486.1:p.Glu781AlafsTer18
NM_001370466.1:c.2341_2342insC MANE Select	NP_001357395.1:p.Glu781AlafsTer18
NM_022162.3:c.2422_2423insC	NP_071445.1:p.Glu808AlafsTer18
NR_163434.1:n.2406_2407insC