Canonical Allele Identifier: CA919705409

Gene: NOD2

Linked Data

• dbSNP Id: rs1596827239
• gnomAD v4: 16-50699785-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699790dup , CM000678.2:g.50699790dup	GRCh38
NC_000016.9:g.50733701dup , CM000678.1:g.50733701dup	GRCh37
NC_000016.8:g.49291202dup	NCBI36
NG_007508.1:g.7652dup , LRG_177:g.7652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.295dup	ENSP00000493088.1:p.His99ProfsTer?
ENST00000646677.2:c.295dup	ENSP00000496533.1:p.His99ProfsTer?
ENST00000641284.1:c.295dup	ENSP00000493088.1:p.His99ProfsTer?
ENST00000646677.1:c.295dup	ENSP00000496533.1:p.His99ProfsTer?
ENST00000647318.2:c.295dup MANE Select	ENSP00000495993.1:p.His99ProfsTer?
ENST00000300589.6:c.376dup	ENSP00000300589.2:p.His126ProfsTer?
ENST00000526417.6:n.363dup
ENST00000527070.5:c.*991dup	ENSP00000435149.1:n.*991dup
ENST00000531674.1:c.295dup	ENSP00000431681.1:p.His99ProfsTer?
ENST00000532206.1:n.480dup
NM_001293557.1:c.295dup	NP_001280486.1:p.His99ProfsTer?
NM_022162.2:c.376dup	NP_071445.1:p.His126ProfsTer?
XM_005256084.2:c.295dup	XP_005256141.1:p.His99ProfsTer?
XM_006721242.2:c.295dup	XP_006721305.1:p.His99ProfsTer?
XM_006721243.2:c.295dup	XP_006721306.1:p.His99ProfsTer?
XM_011523258.1:c.-38+6128dup	XP_011521560.1:n.-38+6128dup
XM_011523259.1:c.-185dup	XP_011521561.1:n.-185dup
XM_011523260.1:c.295dup	XP_011521562.1:p.His99ProfsTer?
XM_011523261.1:c.295dup	XP_011521563.1:p.His99ProfsTer?
XR_429725.2:n.385dup
XR_429726.2:n.385dup
XR_933387.1:n.385dup
XM_005256084.4:c.295dup	XP_005256141.1:p.His99ProfsTer?
XM_006721242.4:c.295dup	XP_006721305.1:p.His99ProfsTer?
XM_006721243.4:c.295dup	XP_006721306.1:p.His99ProfsTer?
XM_011523259.2:c.-185dup	XP_011521561.1:n.-185dup
XM_011523260.3:c.295dup	XP_011521562.1:p.His99ProfsTer?
XM_011523261.2:c.295dup	XP_011521563.1:p.His99ProfsTer?
XM_017023536.1:c.-127+6128dup	XP_016879025.1:n.-127+6128dup
XM_017023537.1:c.-21+6128dup	XP_016879026.1:n.-21+6128dup
XR_429725.3:n.338dup
XR_429726.3:n.338dup
XR_933387.2:n.338dup
NM_001293557.2:c.295dup	NP_001280486.1:p.His99ProfsTer?
NM_001370466.1:c.295dup MANE Select	NP_001357395.1:p.His99ProfsTer?
NM_022162.3:c.376dup	NP_071445.1:p.His126ProfsTer?
NR_163434.1:n.360dup