LDH info

Canonical Allele Identifier: CA340246
Gene: ALS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4411
ClinVar RCV Id: RCV000004661
dbSNP Id: rs386134175

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201760987_201760988del , CM000664.2:g.201760987_201760988del GRCh38
NC_000002.11:g.202625710_202625711del , CM000664.1:g.202625710_202625711del GRCh37
NC_000002.10:g.202333955_202333956del NCBI36
NG_008775.1:g.25186_25187del

Transcript Alleles

HGVS Amino-acid change
NM_001135745.1:c.1007_1008del VV NP_001129217.1:p.Ile336ThrfsTer5
NM_020919.3:c.1007_1008del VV NP_065970.2:p.Ile336ThrfsTer5
XM_005246709.2:c.1007_1008del XP_005246766.1:p.Ile336ThrfsTer5
XM_006712654.1:c.1007_1008del XP_006712717.1:p.Ile336ThrfsTer5
XM_011511530.1:c.668_669del XP_011509832.1:p.Ile223ThrfsTer5
XM_011511531.1:c.1007_1008del XP_011509833.1:p.Ile336ThrfsTer5
XR_922974.1:n.1142_1143del
XM_006712654.3:c.1007_1008del XP_006712717.1:p.Ile336ThrfsTer5
XM_017004569.2:c.1007_1008del XP_016860058.1:p.Ile336ThrfsTer5
XM_017004570.2:c.1007_1008del XP_016860059.1:p.Ile336ThrfsTer5
XM_017004572.2:c.-1479_-1478del XP_016860061.1:p.=
XM_024453024.1:c.668_669del XP_024308792.1:p.Ile223ThrfsTer5
XM_024453025.1:c.-996_-995del XP_024308793.1:p.=
XR_001738864.2:n.1142_1143del
XR_001738865.2:n.1142_1143del
XR_001738866.2:n.1142_1143del
XR_001738867.2:n.1142_1143del
XR_002959320.1:n.260_261del
NM_020919.4:c.1007_1008del VV MANE Preferred NP_065970.2:p.Ile336ThrfsTer5
ENST00000264276.10:c.1007_1008del ENSP00000264276.6:p.Ile336ThrfsTer5
ENST00000467448.5:c.1007_1008del ENSP00000429223.1:p.Ile336ThrfsTer5
ENST00000482789.5:n.1147_1148del
ENST00000482891.5:n.1147_1148del