Canonical Allele Identifier: CA8051522

Gene: NOD2

Linked Data

• ClinVar Variation Id: 786292
• ClinVar RCV Id: RCV002547297 ; RCV002264114 ; RCV003424505
• dbSNP Id: rs151315883
• ExAC: 16:50745148 C / T
• gnomAD v2: 16-50745148-C-T
• gnomAD v3: 16-50711237-C-T
• gnomAD v4: 16-50711237-C-T
• MyVariant Identifiers: chr16:g.50745148C>T (hg19) ; chr16:g.50711237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711237C>T , CM000678.2:g.50711237C>T	GRCh38
NC_000016.9:g.50745148C>T , CM000678.1:g.50745148C>T	GRCh37
NC_000016.8:g.49302649C>T	NCBI36
NG_007508.1:g.19099C>T , LRG_177:g.19099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1245C>T	ENSP00000493088.1:p.Phe415=
ENST00000646677.2:c.1245C>T	ENSP00000496533.1:p.Phe415=
ENST00000641284.1:c.1245C>T	ENSP00000493088.1:p.Phe415=
ENST00000646677.1:c.1245C>T	ENSP00000496533.1:p.Phe415=
ENST00000647318.2:c.1245C>T MANE Select	ENSP00000495993.1:p.Phe415=
ENST00000300589.6:c.1326C>T	ENSP00000300589.2:p.Phe442=
NM_001293557.1:c.1245C>T	NP_001280486.1:p.Phe415=
NM_022162.2:c.1326C>T	NP_071445.1:p.Phe442=
XM_005256084.2:c.1245C>T	XP_005256141.1:p.Phe415=
XM_006721242.2:c.1245C>T	XP_006721305.1:p.Phe415=
XM_006721243.2:c.1245C>T	XP_006721306.1:p.Phe415=
XM_011523257.1:c.822C>T	XP_011521559.1:p.Phe274=
XM_011523258.1:c.822C>T	XP_011521560.1:p.Phe274=
XM_011523259.1:c.660C>T	XP_011521561.1:p.Phe220=
XM_011523260.1:c.1245C>T	XP_011521562.1:p.Phe415=
XM_011523261.1:c.1245C>T	XP_011521563.1:p.Phe415=
XR_429725.2:n.1335C>T
XR_429726.2:n.1335C>T
XR_933387.1:n.1335C>T
XM_005256084.4:c.1245C>T	XP_005256141.1:p.Phe415=
XM_006721242.4:c.1245C>T	XP_006721305.1:p.Phe415=
XM_006721243.4:c.1245C>T	XP_006721306.1:p.Phe415=
XM_011523259.2:c.660C>T	XP_011521561.1:p.Phe220=
XM_011523260.3:c.1245C>T	XP_011521562.1:p.Phe415=
XM_011523261.2:c.1245C>T	XP_011521563.1:p.Phe415=
XM_017023535.1:c.753C>T	XP_016879024.1:p.Phe251=
XM_017023536.1:c.660C>T	XP_016879025.1:p.Phe220=
XM_017023537.1:c.660C>T	XP_016879026.1:p.Phe220=
XM_017023538.1:c.660C>T	XP_016879027.1:p.Phe220=
XR_429725.3:n.1288C>T
XR_429726.3:n.1288C>T
XR_933387.2:n.1288C>T
NM_001293557.2:c.1245C>T	NP_001280486.1:p.Phe415=
NM_001370466.1:c.1245C>T MANE Select	NP_001357395.1:p.Phe415=
NM_022162.3:c.1326C>T	NP_071445.1:p.Phe442=
NR_163434.1:n.1310C>T