LDH info

Canonical Allele Identifier: CA117018
Gene: NOD2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4694
dbSNP Id: rs104895461

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710912G>A , CM000678.2:g.50710912G>A GRCh38
NC_000016.9:g.50744823G>A , CM000678.1:g.50744823G>A GRCh37
NC_000016.8:g.49302324G>A NCBI36
NG_007508.1:g.18774G>A , LRG_177:g.18774G>A

Transcript Alleles

HGVS Amino-acid change
NM_001293557.1:c.920G>A VV NP_001280486.1:p.Arg307Gln
NM_022162.2:c.1001G>A VV NP_071445.1:p.Arg334Gln
XM_005256084.2:c.920G>A XP_005256141.1:p.Arg307Gln
XM_006721242.2:c.920G>A XP_006721305.1:p.Arg307Gln
XM_006721243.2:c.920G>A XP_006721306.1:p.Arg307Gln
XM_011523257.1:c.497G>A XP_011521559.1:p.Arg166Gln
XM_011523258.1:c.497G>A XP_011521560.1:p.Arg166Gln
XM_011523259.1:c.335G>A XP_011521561.1:p.Arg112Gln
XM_011523260.1:c.920G>A XP_011521562.1:p.Arg307Gln
XM_011523261.1:c.920G>A XP_011521563.1:p.Arg307Gln
XR_429725.2:n.1010G>A
XR_429726.2:n.1010G>A
XR_933387.1:n.1010G>A
XM_005256084.4:c.920G>A XP_005256141.1:p.Arg307Gln
XM_006721242.4:c.920G>A XP_006721305.1:p.Arg307Gln
XM_006721243.4:c.920G>A XP_006721306.1:p.Arg307Gln
XM_011523259.2:c.335G>A XP_011521561.1:p.Arg112Gln
XM_011523260.3:c.920G>A XP_011521562.1:p.Arg307Gln
XM_011523261.2:c.920G>A XP_011521563.1:p.Arg307Gln
XM_017023535.1:c.428G>A XP_016879024.1:p.Arg143Gln
XM_017023536.1:c.335G>A XP_016879025.1:p.Arg112Gln
XM_017023537.1:c.335G>A XP_016879026.1:p.Arg112Gln
XM_017023538.1:c.335G>A XP_016879027.1:p.Arg112Gln
XR_429725.3:n.963G>A
XR_429726.3:n.963G>A
XR_933387.2:n.963G>A
NM_001293557.2:c.920G>A VV NP_001280486.1:p.Arg307Gln
NM_001370466.1:c.920G>A VV NP_001357395.1:p.Arg307Gln
NM_022162.3:c.1001G>A VV NP_071445.1:p.Arg334Gln
NR_163434.1:n.985G>A
ENST00000300589.6:c.1001G>A ENSP00000300589.2:p.Arg334Gln
ENST00000526417.6:n.1061G>A