Canonical Allele Identifier: CA395869044
Gene: NOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 565494
ClinVar RCV Id: RCV002531432
dbSNP Id: rs1361409611

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50711405A>C , CM000678.2:g.50711405A>C GRCh38
NC_000016.9:g.50745316A>C , CM000678.1:g.50745316A>C GRCh37
NC_000016.8:g.49302817A>C NCBI36
NG_007508.1:g.19267A>C , LRG_177:g.19267A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.1413A>C ENSP00000493088.1:p.Glu471Asp
ENST00000646677.2:c.1413A>C ENSP00000496533.1:p.Glu471Asp
ENST00000641284.1:c.1413A>C ENSP00000493088.1:p.Glu471Asp
ENST00000646677.1:c.1413A>C ENSP00000496533.1:p.Glu471Asp
ENST00000647318.2:c.1413A>C MANE Select ENSP00000495993.1:p.Glu471Asp
ENST00000300589.6:c.1494A>C ENSP00000300589.2:p.Glu498Asp
NM_001293557.1:c.1413A>C NP_001280486.1:p.Glu471Asp
NM_022162.2:c.1494A>C NP_071445.1:p.Glu498Asp
XM_005256084.2:c.1413A>C XP_005256141.1:p.Glu471Asp
XM_006721242.2:c.1413A>C XP_006721305.1:p.Glu471Asp
XM_006721243.2:c.1413A>C XP_006721306.1:p.Glu471Asp
XM_011523257.1:c.990A>C XP_011521559.1:p.Glu330Asp
XM_011523258.1:c.990A>C XP_011521560.1:p.Glu330Asp
XM_011523259.1:c.828A>C XP_011521561.1:p.Glu276Asp
XM_011523260.1:c.1413A>C XP_011521562.1:p.Glu471Asp
XM_011523261.1:c.1413A>C XP_011521563.1:p.Glu471Asp
XR_429725.2:n.1503A>C
XR_429726.2:n.1503A>C
XR_933387.1:n.1503A>C
XM_005256084.4:c.1413A>C XP_005256141.1:p.Glu471Asp
XM_006721242.4:c.1413A>C XP_006721305.1:p.Glu471Asp
XM_006721243.4:c.1413A>C XP_006721306.1:p.Glu471Asp
XM_011523259.2:c.828A>C XP_011521561.1:p.Glu276Asp
XM_011523260.3:c.1413A>C XP_011521562.1:p.Glu471Asp
XM_011523261.2:c.1413A>C XP_011521563.1:p.Glu471Asp
XM_017023535.1:c.921A>C XP_016879024.1:p.Glu307Asp
XM_017023536.1:c.828A>C XP_016879025.1:p.Glu276Asp
XM_017023537.1:c.828A>C XP_016879026.1:p.Glu276Asp
XM_017023538.1:c.828A>C XP_016879027.1:p.Glu276Asp
XR_429725.3:n.1456A>C
XR_429726.3:n.1456A>C
XR_933387.2:n.1456A>C
NM_001293557.2:c.1413A>C NP_001280486.1:p.Glu471Asp
NM_001370466.1:c.1413A>C MANE Select NP_001357395.1:p.Glu471Asp
NM_022162.3:c.1494A>C NP_071445.1:p.Glu498Asp
NR_163434.1:n.1478A>C