Canonical Allele Identifier: CA8051565

Gene: NOD2

Linked Data

• ClinVar Variation Id: 646734
• ClinVar RCV Id: RCV000996264 ; RCV002537131
• dbSNP Id: rs759153904
• ExAC: 16:50745353 A / G
• gnomAD v2: 16-50745353-A-G
• gnomAD v3: 16-50711442-A-G
• gnomAD v4: 16-50711442-A-G
• MyVariant Identifiers: chr16:g.50745353A>G (hg19) ; chr16:g.50711442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50711442A>G , CM000678.2:g.50711442A>G	GRCh38
NC_000016.9:g.50745353A>G , CM000678.1:g.50745353A>G	GRCh37
NC_000016.8:g.49302854A>G	NCBI36
NG_007508.1:g.19304A>G , LRG_177:g.19304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1450A>G	ENSP00000493088.1:p.Thr484Ala
ENST00000646677.2:c.1450A>G	ENSP00000496533.1:p.Thr484Ala
ENST00000641284.1:c.1450A>G	ENSP00000493088.1:p.Thr484Ala
ENST00000646677.1:c.1450A>G	ENSP00000496533.1:p.Thr484Ala
ENST00000647318.2:c.1450A>G MANE Select	ENSP00000495993.1:p.Thr484Ala
ENST00000300589.6:c.1531A>G	ENSP00000300589.2:p.Thr511Ala
NM_001293557.1:c.1450A>G	NP_001280486.1:p.Thr484Ala
NM_022162.2:c.1531A>G	NP_071445.1:p.Thr511Ala
XM_005256084.2:c.1450A>G	XP_005256141.1:p.Thr484Ala
XM_006721242.2:c.1450A>G	XP_006721305.1:p.Thr484Ala
XM_006721243.2:c.1450A>G	XP_006721306.1:p.Thr484Ala
XM_011523257.1:c.1027A>G	XP_011521559.1:p.Thr343Ala
XM_011523258.1:c.1027A>G	XP_011521560.1:p.Thr343Ala
XM_011523259.1:c.865A>G	XP_011521561.1:p.Thr289Ala
XM_011523260.1:c.1450A>G	XP_011521562.1:p.Thr484Ala
XM_011523261.1:c.1450A>G	XP_011521563.1:p.Thr484Ala
XR_429725.2:n.1540A>G
XR_429726.2:n.1540A>G
XR_933387.1:n.1540A>G
XM_005256084.4:c.1450A>G	XP_005256141.1:p.Thr484Ala
XM_006721242.4:c.1450A>G	XP_006721305.1:p.Thr484Ala
XM_006721243.4:c.1450A>G	XP_006721306.1:p.Thr484Ala
XM_011523259.2:c.865A>G	XP_011521561.1:p.Thr289Ala
XM_011523260.3:c.1450A>G	XP_011521562.1:p.Thr484Ala
XM_011523261.2:c.1450A>G	XP_011521563.1:p.Thr484Ala
XM_017023535.1:c.958A>G	XP_016879024.1:p.Thr320Ala
XM_017023536.1:c.865A>G	XP_016879025.1:p.Thr289Ala
XM_017023537.1:c.865A>G	XP_016879026.1:p.Thr289Ala
XM_017023538.1:c.865A>G	XP_016879027.1:p.Thr289Ala
XR_429725.3:n.1493A>G
XR_429726.3:n.1493A>G
XR_933387.2:n.1493A>G
NM_001293557.2:c.1450A>G	NP_001280486.1:p.Thr484Ala
NM_001370466.1:c.1450A>G MANE Select	NP_001357395.1:p.Thr484Ala
NM_022162.3:c.1531A>G	NP_071445.1:p.Thr511Ala
NR_163434.1:n.1515A>G