Canonical Allele Identifier: CA395866928

Gene: NOD2

Linked Data

• dbSNP Id: rs749605438
• gnomAD v2: 16-50733823-A-C
• gnomAD v4: 16-50699912-A-C
• MyVariant Identifiers: chr16:g.50733823A>C (hg19) ; chr16:g.50699912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699912A>C , CM000678.2:g.50699912A>C	GRCh38
NC_000016.9:g.50733823A>C , CM000678.1:g.50733823A>C	GRCh37
NC_000016.8:g.49291324A>C	NCBI36
NG_007508.1:g.7774A>C , LRG_177:g.7774A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.417A>C	ENSP00000493088.1:p.Glu139Asp
ENST00000646677.2:c.417A>C	ENSP00000496533.1:p.Glu139Asp
ENST00000641284.1:c.417A>C	ENSP00000493088.1:p.Glu139Asp
ENST00000646677.1:c.417A>C	ENSP00000496533.1:p.Glu139Asp
ENST00000647318.2:c.417A>C MANE Select	ENSP00000495993.1:p.Glu139Asp
ENST00000300589.6:c.498A>C	ENSP00000300589.2:p.Glu166Asp
ENST00000526417.6:n.485A>C
ENST00000527070.5:c.*1113A>C	ENSP00000435149.1:n.*1113A>C
ENST00000531674.1:c.417A>C	ENSP00000431681.1:p.Glu139Asp
ENST00000532206.1:n.602A>C
NM_001293557.1:c.417A>C	NP_001280486.1:p.Glu139Asp
NM_022162.2:c.498A>C	NP_071445.1:p.Glu166Asp
XM_005256084.2:c.417A>C	XP_005256141.1:p.Glu139Asp
XM_006721242.2:c.417A>C	XP_006721305.1:p.Glu139Asp
XM_006721243.2:c.417A>C	XP_006721306.1:p.Glu139Asp
XM_011523257.1:c.-80A>C	XP_011521559.1:n.-80A>C
XM_011523258.1:c.-38+6250A>C	XP_011521560.1:n.-38+6250A>C
XM_011523259.1:c.-63A>C	XP_011521561.1:n.-63A>C
XM_011523260.1:c.417A>C	XP_011521562.1:p.Glu139Asp
XM_011523261.1:c.417A>C	XP_011521563.1:p.Glu139Asp
XR_429725.2:n.507A>C
XR_429726.2:n.507A>C
XR_933387.1:n.507A>C
XM_005256084.4:c.417A>C	XP_005256141.1:p.Glu139Asp
XM_006721242.4:c.417A>C	XP_006721305.1:p.Glu139Asp
XM_006721243.4:c.417A>C	XP_006721306.1:p.Glu139Asp
XM_011523259.2:c.-63A>C	XP_011521561.1:n.-63A>C
XM_011523260.3:c.417A>C	XP_011521562.1:p.Glu139Asp
XM_011523261.2:c.417A>C	XP_011521563.1:p.Glu139Asp
XM_017023536.1:c.-127+6250A>C	XP_016879025.1:n.-127+6250A>C
XM_017023537.1:c.-21+6250A>C	XP_016879026.1:n.-21+6250A>C
XR_429725.3:n.460A>C
XR_429726.3:n.460A>C
XR_933387.2:n.460A>C
NM_001293557.2:c.417A>C	NP_001280486.1:p.Glu139Asp
NM_001370466.1:c.417A>C MANE Select	NP_001357395.1:p.Glu139Asp
NM_022162.3:c.498A>C	NP_071445.1:p.Glu166Asp
NR_163434.1:n.482A>C