Canonical Allele Identifier: CA8051568

Gene: NOD2

Linked Data

• ClinVar Variation Id: 1165780
• ClinVar RCV Id: RCV002261370 ; RCV002564318
• dbSNP Id: rs553575063
• ExAC: 16:50745367 G / T
• gnomAD v2: 16-50745367-G-T
• gnomAD v3: 16-50711456-G-T
• gnomAD v4: 16-50711456-G-T
• MyVariant Identifiers: chr16:g.50745367G>T (hg19) ; chr16:g.50711456G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711456G>T , CM000678.2:g.50711456G>T	GRCh38
NC_000016.9:g.50745367G>T , CM000678.1:g.50745367G>T	GRCh37
NC_000016.8:g.49302868G>T	NCBI36
NG_007508.1:g.19318G>T , LRG_177:g.19318G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1464G>T	ENSP00000493088.1:p.Leu488=
ENST00000646677.2:c.1464G>T	ENSP00000496533.1:p.Leu488=
ENST00000641284.1:c.1464G>T	ENSP00000493088.1:p.Leu488=
ENST00000646677.1:c.1464G>T	ENSP00000496533.1:p.Leu488=
ENST00000647318.2:c.1464G>T MANE Select	ENSP00000495993.1:p.Leu488=
ENST00000300589.6:c.1545G>T	ENSP00000300589.2:p.Leu515=
NM_001293557.1:c.1464G>T	NP_001280486.1:p.Leu488=
NM_022162.2:c.1545G>T	NP_071445.1:p.Leu515=
XM_005256084.2:c.1464G>T	XP_005256141.1:p.Leu488=
XM_006721242.2:c.1464G>T	XP_006721305.1:p.Leu488=
XM_006721243.2:c.1464G>T	XP_006721306.1:p.Leu488=
XM_011523257.1:c.1041G>T	XP_011521559.1:p.Leu347=
XM_011523258.1:c.1041G>T	XP_011521560.1:p.Leu347=
XM_011523259.1:c.879G>T	XP_011521561.1:p.Leu293=
XM_011523260.1:c.1464G>T	XP_011521562.1:p.Leu488=
XM_011523261.1:c.1464G>T	XP_011521563.1:p.Leu488=
XR_429725.2:n.1554G>T
XR_429726.2:n.1554G>T
XR_933387.1:n.1554G>T
XM_005256084.4:c.1464G>T	XP_005256141.1:p.Leu488=
XM_006721242.4:c.1464G>T	XP_006721305.1:p.Leu488=
XM_006721243.4:c.1464G>T	XP_006721306.1:p.Leu488=
XM_011523259.2:c.879G>T	XP_011521561.1:p.Leu293=
XM_011523260.3:c.1464G>T	XP_011521562.1:p.Leu488=
XM_011523261.2:c.1464G>T	XP_011521563.1:p.Leu488=
XM_017023535.1:c.972G>T	XP_016879024.1:p.Leu324=
XM_017023536.1:c.879G>T	XP_016879025.1:p.Leu293=
XM_017023537.1:c.879G>T	XP_016879026.1:p.Leu293=
XM_017023538.1:c.879G>T	XP_016879027.1:p.Leu293=
XR_429725.3:n.1507G>T
XR_429726.3:n.1507G>T
XR_933387.2:n.1507G>T
NM_001293557.2:c.1464G>T	NP_001280486.1:p.Leu488=
NM_001370466.1:c.1464G>T MANE Select	NP_001357395.1:p.Leu488=
NM_022162.3:c.1545G>T	NP_071445.1:p.Leu515=
NR_163434.1:n.1529G>T