Canonical Allele Identifier: CA2633162824

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699859-GTGGAGAACATGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699864_50699875del , CM000678.2:g.50699864_50699875del	GRCh38
NC_000016.9:g.50733775_50733786del , CM000678.1:g.50733775_50733786del	GRCh37
NC_000016.8:g.49291276_49291287del	NCBI36
NG_007508.1:g.7726_7737del , LRG_177:g.7726_7737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.369_380del	ENSP00000493088.1:p.Glu123_Leu126del
ENST00000646677.2:c.369_380del	ENSP00000496533.1:p.Glu123_Leu126del
ENST00000641284.1:c.369_380del	ENSP00000493088.1:p.Glu123_Leu126del
ENST00000646677.1:c.369_380del	ENSP00000496533.1:p.Glu123_Leu126del
ENST00000647318.2:c.369_380del MANE Select	ENSP00000495993.1:p.Glu123_Leu126del
ENST00000300589.6:c.450_461del	ENSP00000300589.2:p.Glu150_Leu153del
ENST00000526417.6:n.437_448del
ENST00000527070.5:c.*1065_*1076del	ENSP00000435149.1:n.*1065_*1076del
ENST00000531674.1:c.369_380del	ENSP00000431681.1:p.Glu123_Leu126del
ENST00000532206.1:n.554_565del
NM_001293557.1:c.369_380del	NP_001280486.1:p.Glu123_Leu126del
NM_022162.2:c.450_461del	NP_071445.1:p.Glu150_Leu153del
XM_005256084.2:c.369_380del	XP_005256141.1:p.Glu123_Leu126del
XM_006721242.2:c.369_380del	XP_006721305.1:p.Glu123_Leu126del
XM_006721243.2:c.369_380del	XP_006721306.1:p.Glu123_Leu126del
XM_011523258.1:c.-38+6202_-38+6213del	XP_011521560.1:n.-38+6202_-38+6213del
XM_011523259.1:c.-111_-100del	XP_011521561.1:n.-111_-100del
XM_011523260.1:c.369_380del	XP_011521562.1:p.Glu123_Leu126del
XM_011523261.1:c.369_380del	XP_011521563.1:p.Glu123_Leu126del
XR_429725.2:n.459_470del
XR_429726.2:n.459_470del
XR_933387.1:n.459_470del
XM_005256084.4:c.369_380del	XP_005256141.1:p.Glu123_Leu126del
XM_006721242.4:c.369_380del	XP_006721305.1:p.Glu123_Leu126del
XM_006721243.4:c.369_380del	XP_006721306.1:p.Glu123_Leu126del
XM_011523259.2:c.-111_-100del	XP_011521561.1:n.-111_-100del
XM_011523260.3:c.369_380del	XP_011521562.1:p.Glu123_Leu126del
XM_011523261.2:c.369_380del	XP_011521563.1:p.Glu123_Leu126del
XM_017023536.1:c.-127+6202_-127+6213del	XP_016879025.1:n.-127+6202_-127+6213del
XM_017023537.1:c.-21+6202_-21+6213del	XP_016879026.1:n.-21+6202_-21+6213del
XR_429725.3:n.412_423del
XR_429726.3:n.412_423del
XR_933387.2:n.412_423del
NM_001293557.2:c.369_380del	NP_001280486.1:p.Glu123_Leu126del
NM_001370466.1:c.369_380del MANE Select	NP_001357395.1:p.Glu123_Leu126del
NM_022162.3:c.450_461del	NP_071445.1:p.Glu150_Leu153del
NR_163434.1:n.434_445del