Canonical Allele Identifier: CA2633162816

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699754-AGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699755_50699757del , CM000678.2:g.50699755_50699757del	GRCh38
NC_000016.9:g.50733666_50733668del , CM000678.1:g.50733666_50733668del	GRCh37
NC_000016.8:g.49291167_49291169del	NCBI36
NG_007508.1:g.7617_7619del , LRG_177:g.7617_7619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.260_262del	ENSP00000493088.1:p.Ser87_Gln88delinsLys
ENST00000646677.2:c.260_262del	ENSP00000496533.1:p.Ser87_Gln88delinsLys
ENST00000641284.1:c.260_262del	ENSP00000493088.1:p.Ser87_Gln88delinsLys
ENST00000646677.1:c.260_262del	ENSP00000496533.1:p.Ser87_Gln88delinsLys
ENST00000647318.2:c.260_262del MANE Select	ENSP00000495993.1:p.Ser87_Gln88delinsLys
ENST00000300589.6:c.341_343del	ENSP00000300589.2:p.Ser114_Gln115delinsLys
ENST00000526417.6:n.328_330del
ENST00000527070.5:c.*956_*958del	ENSP00000435149.1:n.*956_*958del
ENST00000531674.1:c.260_262del	ENSP00000431681.1:p.Ser87_Gln88delinsLys
ENST00000532206.1:n.445_447del
NM_001293557.1:c.260_262del	NP_001280486.1:p.Ser87_Gln88delinsLys
NM_022162.2:c.341_343del	NP_071445.1:p.Ser114_Gln115delinsLys
XM_005256084.2:c.260_262del	XP_005256141.1:p.Ser87_Gln88delinsLys
XM_006721242.2:c.260_262del	XP_006721305.1:p.Ser87_Gln88delinsLys
XM_006721243.2:c.260_262del	XP_006721306.1:p.Ser87_Gln88delinsLys
XM_011523258.1:c.-38+6093_-38+6095del	XP_011521560.1:n.-38+6093_-38+6095del
XM_011523259.1:c.-220_-218del	XP_011521561.1:n.-220_-218del
XM_011523260.1:c.260_262del	XP_011521562.1:p.Ser87_Gln88delinsLys
XM_011523261.1:c.260_262del	XP_011521563.1:p.Ser87_Gln88delinsLys
XR_429725.2:n.350_352del
XR_429726.2:n.350_352del
XR_933387.1:n.350_352del
XM_005256084.4:c.260_262del	XP_005256141.1:p.Ser87_Gln88delinsLys
XM_006721242.4:c.260_262del	XP_006721305.1:p.Ser87_Gln88delinsLys
XM_006721243.4:c.260_262del	XP_006721306.1:p.Ser87_Gln88delinsLys
XM_011523259.2:c.-220_-218del	XP_011521561.1:n.-220_-218del
XM_011523260.3:c.260_262del	XP_011521562.1:p.Ser87_Gln88delinsLys
XM_011523261.2:c.260_262del	XP_011521563.1:p.Ser87_Gln88delinsLys
XM_017023536.1:c.-127+6093_-127+6095del	XP_016879025.1:n.-127+6093_-127+6095del
XM_017023537.1:c.-21+6093_-21+6095del	XP_016879026.1:n.-21+6093_-21+6095del
XR_429725.3:n.303_305del
XR_429726.3:n.303_305del
XR_933387.2:n.303_305del
NM_001293557.2:c.260_262del	NP_001280486.1:p.Ser87_Gln88delinsLys
NM_001370466.1:c.260_262del MANE Select	NP_001357395.1:p.Ser87_Gln88delinsLys
NM_022162.3:c.341_343del	NP_071445.1:p.Ser114_Gln115delinsLys
NR_163434.1:n.325_327del