Canonical Allele Identifier: CA395865271

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699516-T-G
• MyVariant Identifiers: chr16:g.50733427T>G (hg19) ; chr16:g.50699516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699516T>G , CM000678.2:g.50699516T>G	GRCh38
NC_000016.9:g.50733427T>G , CM000678.1:g.50733427T>G	GRCh37
NC_000016.8:g.49290928T>G	NCBI36
NG_007508.1:g.7378T>G , LRG_177:g.7378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.21T>G	ENSP00000493088.1:p.Phe7Leu
ENST00000646677.2:c.21T>G	ENSP00000496533.1:p.Phe7Leu
ENST00000641284.1:c.21T>G	ENSP00000493088.1:p.Phe7Leu
ENST00000646677.1:c.21T>G	ENSP00000496533.1:p.Phe7Leu
ENST00000647318.2:c.21T>G MANE Select	ENSP00000495993.1:p.Phe7Leu
ENST00000300589.6:c.102T>G	ENSP00000300589.2:p.Phe34Leu
ENST00000526417.6:n.89T>G
ENST00000527070.5:c.*717T>G	ENSP00000435149.1:n.*717T>G
ENST00000531674.1:c.21T>G	ENSP00000431681.1:p.Phe7Leu
ENST00000532206.1:n.206T>G
NM_001293557.1:c.21T>G	NP_001280486.1:p.Phe7Leu
NM_022162.2:c.102T>G	NP_071445.1:p.Phe34Leu
XM_005256084.2:c.21T>G	XP_005256141.1:p.Phe7Leu
XM_006721242.2:c.21T>G	XP_006721305.1:p.Phe7Leu
XM_006721243.2:c.21T>G	XP_006721306.1:p.Phe7Leu
XM_011523258.1:c.-38+5854T>G	XP_011521560.1:n.-38+5854T>G
XM_011523259.1:c.-459T>G	XP_011521561.1:n.-459T>G
XM_011523260.1:c.21T>G	XP_011521562.1:p.Phe7Leu
XM_011523261.1:c.21T>G	XP_011521563.1:p.Phe7Leu
XR_429725.2:n.111T>G
XR_429726.2:n.111T>G
XR_933387.1:n.111T>G
XM_005256084.4:c.21T>G	XP_005256141.1:p.Phe7Leu
XM_006721242.4:c.21T>G	XP_006721305.1:p.Phe7Leu
XM_006721243.4:c.21T>G	XP_006721306.1:p.Phe7Leu
XM_011523259.2:c.-459T>G	XP_011521561.1:n.-459T>G
XM_011523260.3:c.21T>G	XP_011521562.1:p.Phe7Leu
XM_011523261.2:c.21T>G	XP_011521563.1:p.Phe7Leu
XM_017023536.1:c.-127+5854T>G	XP_016879025.1:n.-127+5854T>G
XM_017023537.1:c.-21+5854T>G	XP_016879026.1:n.-21+5854T>G
XR_429725.3:n.64T>G
XR_429726.3:n.64T>G
XR_933387.2:n.64T>G
NM_001293557.2:c.21T>G	NP_001280486.1:p.Phe7Leu
NM_001370466.1:c.21T>G MANE Select	NP_001357395.1:p.Phe7Leu
NM_022162.3:c.102T>G	NP_071445.1:p.Phe34Leu
NR_163434.1:n.86T>G