Canonical Allele Identifier: CA2633162812

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699713-GTCAGAAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699717_50699724del , CM000678.2:g.50699717_50699724del	GRCh38
NC_000016.9:g.50733628_50733635del , CM000678.1:g.50733628_50733635del	GRCh37
NC_000016.8:g.49291129_49291136del	NCBI36
NG_007508.1:g.7579_7586del , LRG_177:g.7579_7586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.222_229del	ENSP00000493088.1:p.Gln74HisfsTer?
ENST00000646677.2:c.222_229del	ENSP00000496533.1:p.Gln74HisfsTer?
ENST00000641284.1:c.222_229del	ENSP00000493088.1:p.Gln74HisfsTer?
ENST00000646677.1:c.222_229del	ENSP00000496533.1:p.Gln74HisfsTer?
ENST00000647318.2:c.222_229del MANE Select	ENSP00000495993.1:p.Gln74HisfsTer?
ENST00000300589.6:c.303_310del	ENSP00000300589.2:p.Gln101HisfsTer?
ENST00000526417.6:n.290_297del
ENST00000527070.5:c.*918_*925del	ENSP00000435149.1:n.*918_*925del
ENST00000531674.1:c.222_229del	ENSP00000431681.1:p.Gln74HisfsTer?
ENST00000532206.1:n.407_414del
NM_001293557.1:c.222_229del	NP_001280486.1:p.Gln74HisfsTer?
NM_022162.2:c.303_310del	NP_071445.1:p.Gln101HisfsTer?
XM_005256084.2:c.222_229del	XP_005256141.1:p.Gln74HisfsTer?
XM_006721242.2:c.222_229del	XP_006721305.1:p.Gln74HisfsTer?
XM_006721243.2:c.222_229del	XP_006721306.1:p.Gln74HisfsTer?
XM_011523258.1:c.-38+6055_-38+6062del	XP_011521560.1:n.-38+6055_-38+6062del
XM_011523259.1:c.-258_-251del	XP_011521561.1:n.-258_-251del
XM_011523260.1:c.222_229del	XP_011521562.1:p.Gln74HisfsTer?
XM_011523261.1:c.222_229del	XP_011521563.1:p.Gln74HisfsTer?
XR_429725.2:n.312_319del
XR_429726.2:n.312_319del
XR_933387.1:n.312_319del
XM_005256084.4:c.222_229del	XP_005256141.1:p.Gln74HisfsTer?
XM_006721242.4:c.222_229del	XP_006721305.1:p.Gln74HisfsTer?
XM_006721243.4:c.222_229del	XP_006721306.1:p.Gln74HisfsTer?
XM_011523259.2:c.-258_-251del	XP_011521561.1:n.-258_-251del
XM_011523260.3:c.222_229del	XP_011521562.1:p.Gln74HisfsTer?
XM_011523261.2:c.222_229del	XP_011521563.1:p.Gln74HisfsTer?
XM_017023536.1:c.-127+6055_-127+6062del	XP_016879025.1:n.-127+6055_-127+6062del
XM_017023537.1:c.-21+6055_-21+6062del	XP_016879026.1:n.-21+6055_-21+6062del
XR_429725.3:n.265_272del
XR_429726.3:n.265_272del
XR_933387.2:n.265_272del
NM_001293557.2:c.222_229del	NP_001280486.1:p.Gln74HisfsTer?
NM_001370466.1:c.222_229del MANE Select	NP_001357395.1:p.Gln74HisfsTer?
NM_022162.3:c.303_310del	NP_071445.1:p.Gln101HisfsTer?
NR_163434.1:n.287_294del