Canonical Allele Identifier: CA395866986

Gene: NOD2

Linked Data

• MyVariant Identifiers: chr16:g.50733849T>G (hg19) ; chr16:g.50699938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699938T>G , CM000678.2:g.50699938T>G	GRCh38
NC_000016.9:g.50733849T>G , CM000678.1:g.50733849T>G	GRCh37
NC_000016.8:g.49291350T>G	NCBI36
NG_007508.1:g.7800T>G , LRG_177:g.7800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.443T>G	ENSP00000493088.1:p.Phe148Cys
ENST00000646677.2:c.443T>G	ENSP00000496533.1:p.Phe148Cys
ENST00000641284.1:c.443T>G	ENSP00000493088.1:p.Phe148Cys
ENST00000646677.1:c.443T>G	ENSP00000496533.1:p.Phe148Cys
ENST00000647318.2:c.443T>G MANE Select	ENSP00000495993.1:p.Phe148Cys
ENST00000300589.6:c.524T>G	ENSP00000300589.2:p.Phe175Cys
ENST00000526417.6:n.511T>G
ENST00000527070.5:c.*1139T>G	ENSP00000435149.1:n.*1139T>G
ENST00000532206.1:n.628T>G
NM_001293557.1:c.443T>G	NP_001280486.1:p.Phe148Cys
NM_022162.2:c.524T>G	NP_071445.1:p.Phe175Cys
XM_005256084.2:c.443T>G	XP_005256141.1:p.Phe148Cys
XM_006721242.2:c.443T>G	XP_006721305.1:p.Phe148Cys
XM_006721243.2:c.443T>G	XP_006721306.1:p.Phe148Cys
XM_011523257.1:c.-54T>G	XP_011521559.1:n.-54T>G
XM_011523258.1:c.-38+6276T>G	XP_011521560.1:n.-38+6276T>G
XM_011523259.1:c.-37T>G	XP_011521561.1:n.-37T>G
XM_011523260.1:c.443T>G	XP_011521562.1:p.Phe148Cys
XM_011523261.1:c.443T>G	XP_011521563.1:p.Phe148Cys
XR_429725.2:n.533T>G
XR_429726.2:n.533T>G
XR_933387.1:n.533T>G
XM_005256084.4:c.443T>G	XP_005256141.1:p.Phe148Cys
XM_006721242.4:c.443T>G	XP_006721305.1:p.Phe148Cys
XM_006721243.4:c.443T>G	XP_006721306.1:p.Phe148Cys
XM_011523259.2:c.-37T>G	XP_011521561.1:n.-37T>G
XM_011523260.3:c.443T>G	XP_011521562.1:p.Phe148Cys
XM_011523261.2:c.443T>G	XP_011521563.1:p.Phe148Cys
XM_017023536.1:c.-127+6276T>G	XP_016879025.1:n.-127+6276T>G
XM_017023537.1:c.-21+6276T>G	XP_016879026.1:n.-21+6276T>G
XR_429725.3:n.486T>G
XR_429726.3:n.486T>G
XR_933387.2:n.486T>G
NM_001293557.2:c.443T>G	NP_001280486.1:p.Phe148Cys
NM_001370466.1:c.443T>G MANE Select	NP_001357395.1:p.Phe148Cys
NM_022162.3:c.524T>G	NP_071445.1:p.Phe175Cys
NR_163434.1:n.508T>G