LDH info

Canonical Allele Identifier: CA2058548
Gene: ALS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 261364
dbSNP Id: rs3219156

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201760892C>T , CM000664.2:g.201760892C>T GRCh38
NC_000002.11:g.202625615C>T , CM000664.1:g.202625615C>T GRCh37
NC_000002.10:g.202333860C>T NCBI36
NG_008775.1:g.25281G>A

Transcript Alleles

HGVS Amino-acid change
NM_001135745.1:c.1102G>A VV NP_001129217.1:p.Val368Met
NM_020919.3:c.1102G>A VV NP_065970.2:p.Val368Met
XM_005246709.2:c.1102G>A XP_005246766.1:p.Val368Met
XM_006712654.1:c.1102G>A XP_006712717.1:p.Val368Met
XM_011511530.1:c.763G>A XP_011509832.1:p.Val255Met
XM_011511531.1:c.1102G>A XP_011509833.1:p.Val368Met
XR_922974.1:n.1237G>A
XM_006712654.3:c.1102G>A XP_006712717.1:p.Val368Met
XM_017004569.2:c.1102G>A XP_016860058.1:p.Val368Met
XM_017004570.2:c.1102G>A XP_016860059.1:p.Val368Met
XM_017004572.2:c.-1384G>A XP_016860061.1:p.=
XM_024453024.1:c.763G>A XP_024308792.1:p.Val255Met
XM_024453025.1:c.-901G>A XP_024308793.1:p.=
XR_001738864.2:n.1237G>A
XR_001738865.2:n.1237G>A
XR_001738866.2:n.1237G>A
XR_001738867.2:n.1237G>A
XR_002959320.1:n.355G>A
NM_020919.4:c.1102G>A VV MANE Preferred NP_065970.2:p.Val368Met
ENST00000264276.10:c.1102G>A ENSP00000264276.6:p.Val368Met
ENST00000467448.5:c.1102G>A ENSP00000429223.1:p.Val368Met
ENST00000482789.5:n.1242G>A
ENST00000482891.5:n.1242G>A