LDH info

Canonical Allele Identifier: CA8051231
Gene: NOD2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 267320
ClinVar RCV Id: RCV000258045
dbSNP Id: rs34936594

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699655C>G , CM000678.2:g.50699655C>G GRCh38
NC_000016.9:g.50733566C>G , CM000678.1:g.50733566C>G GRCh37
NC_000016.8:g.49291067C>G NCBI36
NG_007508.1:g.7517C>G , LRG_177:g.7517C>G

Transcript Alleles

HGVS Amino-acid change
NM_001293557.1:c.160C>G VV NP_001280486.1:p.Leu54Val
NM_022162.2:c.241C>G VV NP_071445.1:p.Leu81Val
XM_005256084.2:c.160C>G XP_005256141.1:p.Leu54Val
XM_006721242.2:c.160C>G XP_006721305.1:p.Leu54Val
XM_006721243.2:c.160C>G XP_006721306.1:p.Leu54Val
XM_011523258.1:c.-38+5993C>G XP_011521560.1:p.=
XM_011523259.1:c.-320C>G XP_011521561.1:p.=
XM_011523260.1:c.160C>G XP_011521562.1:p.Leu54Val
XM_011523261.1:c.160C>G XP_011521563.1:p.Leu54Val
XR_429725.2:n.250C>G
XR_429726.2:n.250C>G
XR_933387.1:n.250C>G
XM_005256084.4:c.160C>G XP_005256141.1:p.Leu54Val
XM_006721242.4:c.160C>G XP_006721305.1:p.Leu54Val
XM_006721243.4:c.160C>G XP_006721306.1:p.Leu54Val
XM_011523259.2:c.-320C>G XP_011521561.1:p.=
XM_011523260.3:c.160C>G XP_011521562.1:p.Leu54Val
XM_011523261.2:c.160C>G XP_011521563.1:p.Leu54Val
XM_017023536.1:c.-127+5993C>G XP_016879025.1:p.=
XM_017023537.1:c.-21+5993C>G XP_016879026.1:p.=
XR_429725.3:n.203C>G
XR_429726.3:n.203C>G
XR_933387.2:n.203C>G
ENST00000300589.6:c.241C>G ENSP00000300589.2:p.Leu81Val
ENST00000526417.6:n.228C>G
ENST00000527070.5:c.*856C>G ENSP00000435149.1:p.=
ENST00000531674.1:c.160C>G ENSP00000431681.1:p.Leu54Val
ENST00000532206.1:n.345C>G