Canonical Allele Identifier: CA395871647

Gene: NOD2

Linked Data

• gnomAD v4: 16-50712192-G-A
• MyVariant Identifiers: chr16:g.50746103G>A (hg19) ; chr16:g.50712192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50712192G>A , CM000678.2:g.50712192G>A	GRCh38
NC_000016.9:g.50746103G>A , CM000678.1:g.50746103G>A	GRCh37
NC_000016.8:g.49303604G>A	NCBI36
NG_007508.1:g.20054G>A , LRG_177:g.20054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.2200G>A	ENSP00000493088.1:p.Gly734Ser
ENST00000646677.2:c.2200G>A	ENSP00000496533.1:p.Gly734Ser
ENST00000641284.1:c.2200G>A	ENSP00000493088.1:p.Gly734Ser
ENST00000646677.1:c.2200G>A	ENSP00000496533.1:p.Gly734Ser
ENST00000647318.2:c.2200G>A MANE Select	ENSP00000495993.1:p.Gly734Ser
ENST00000300589.6:c.2281G>A	ENSP00000300589.2:p.Gly761Ser
NM_001293557.1:c.2200G>A	NP_001280486.1:p.Gly734Ser
NM_022162.2:c.2281G>A	NP_071445.1:p.Gly761Ser
XM_005256084.2:c.2200G>A	XP_005256141.1:p.Gly734Ser
XM_006721242.2:c.2200G>A	XP_006721305.1:p.Gly734Ser
XM_006721243.2:c.2200G>A	XP_006721306.1:p.Gly734Ser
XM_011523257.1:c.1777G>A	XP_011521559.1:p.Gly593Ser
XM_011523258.1:c.1777G>A	XP_011521560.1:p.Gly593Ser
XM_011523259.1:c.1615G>A	XP_011521561.1:p.Gly539Ser
XM_011523260.1:c.2200G>A	XP_011521562.1:p.Gly734Ser
XM_011523261.1:c.2200G>A	XP_011521563.1:p.Gly734Ser
XR_429725.2:n.2290G>A
XR_429726.2:n.2290G>A
XR_933387.1:n.2290G>A
XM_005256084.4:c.2200G>A	XP_005256141.1:p.Gly734Ser
XM_006721242.4:c.2200G>A	XP_006721305.1:p.Gly734Ser
XM_006721243.4:c.2200G>A	XP_006721306.1:p.Gly734Ser
XM_011523259.2:c.1615G>A	XP_011521561.1:p.Gly539Ser
XM_011523260.3:c.2200G>A	XP_011521562.1:p.Gly734Ser
XM_011523261.2:c.2200G>A	XP_011521563.1:p.Gly734Ser
XM_017023535.1:c.1708G>A	XP_016879024.1:p.Gly570Ser
XM_017023536.1:c.1615G>A	XP_016879025.1:p.Gly539Ser
XM_017023537.1:c.1615G>A	XP_016879026.1:p.Gly539Ser
XM_017023538.1:c.1615G>A	XP_016879027.1:p.Gly539Ser
XR_429725.3:n.2243G>A
XR_429726.3:n.2243G>A
XR_933387.2:n.2243G>A
NM_001293557.2:c.2200G>A	NP_001280486.1:p.Gly734Ser
NM_001370466.1:c.2200G>A MANE Select	NP_001357395.1:p.Gly734Ser
NM_022162.3:c.2281G>A	NP_071445.1:p.Gly761Ser
NR_163434.1:n.2265G>A