LDH info

Canonical Allele Identifier: CA117027
Gene: NOD2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4699
ClinVar RCV Id: RCV000416482
dbSNP Id: rs104895476

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50711057C>G , CM000678.2:g.50711057C>G GRCh38
NC_000016.9:g.50744968C>G , CM000678.1:g.50744968C>G GRCh37
NC_000016.8:g.49302469C>G NCBI36
NG_007508.1:g.18919C>G , LRG_177:g.18919C>G

Transcript Alleles

HGVS Amino-acid change
NM_001293557.1:c.1065C>G VV NP_001280486.1:p.Asp355Glu
NM_022162.2:c.1146C>G VV NP_071445.1:p.Asp382Glu
XM_005256084.2:c.1065C>G XP_005256141.1:p.Asp355Glu
XM_006721242.2:c.1065C>G XP_006721305.1:p.Asp355Glu
XM_006721243.2:c.1065C>G XP_006721306.1:p.Asp355Glu
XM_011523257.1:c.642C>G XP_011521559.1:p.Asp214Glu
XM_011523258.1:c.642C>G XP_011521560.1:p.Asp214Glu
XM_011523259.1:c.480C>G XP_011521561.1:p.Asp160Glu
XM_011523260.1:c.1065C>G XP_011521562.1:p.Asp355Glu
XM_011523261.1:c.1065C>G XP_011521563.1:p.Asp355Glu
XR_429725.2:n.1155C>G
XR_429726.2:n.1155C>G
XR_933387.1:n.1155C>G
XM_005256084.4:c.1065C>G XP_005256141.1:p.Asp355Glu
XM_006721242.4:c.1065C>G XP_006721305.1:p.Asp355Glu
XM_006721243.4:c.1065C>G XP_006721306.1:p.Asp355Glu
XM_011523259.2:c.480C>G XP_011521561.1:p.Asp160Glu
XM_011523260.3:c.1065C>G XP_011521562.1:p.Asp355Glu
XM_011523261.2:c.1065C>G XP_011521563.1:p.Asp355Glu
XM_017023535.1:c.573C>G XP_016879024.1:p.Asp191Glu
XM_017023536.1:c.480C>G XP_016879025.1:p.Asp160Glu
XM_017023537.1:c.480C>G XP_016879026.1:p.Asp160Glu
XM_017023538.1:c.480C>G XP_016879027.1:p.Asp160Glu
XR_429725.3:n.1108C>G
XR_429726.3:n.1108C>G
XR_933387.2:n.1108C>G
NM_001293557.2:c.1065C>G VV NP_001280486.1:p.Asp355Glu
NM_001370466.1:c.1065C>G VV NP_001357395.1:p.Asp355Glu
NM_022162.3:c.1146C>G VV NP_071445.1:p.Asp382Glu
NR_163434.1:n.1130C>G
ENST00000300589.6:c.1146C>G ENSP00000300589.2:p.Asp382Glu