LDH info

Canonical Allele Identifier: CA340240
Gene: ALS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4407
ClinVar RCV Id: RCV000004657
dbSNP Id: rs386134176

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201757447_201757448del , CM000664.2:g.201757447_201757448del GRCh38
NC_000002.11:g.202622170_202622171del , CM000664.1:g.202622170_202622171del GRCh37
NC_000002.10:g.202330415_202330416del NCBI36
NG_008775.1:g.28727_28728del

Transcript Alleles

HGVS Amino-acid change
NM_020919.3:c.1427_1428del VV NP_065970.2:p.Glu476GlyfsTer?
XM_005246709.2:c.1427_1428del XP_005246766.1:p.Glu476GlyfsTer?
XM_006712654.1:c.1427_1428del XP_006712717.1:p.Glu476GlyfsTer?
XM_011511530.1:c.1088_1089del XP_011509832.1:p.Glu363GlyfsTer?
XM_011511531.1:c.1427_1428del XP_011509833.1:p.Glu476GlyfsTer?
XR_922974.1:n.1562_1563del
XM_006712654.3:c.1427_1428del XP_006712717.1:p.Glu476GlyfsTer?
XM_006712655.3:c.-576_-575del XP_006712718.1:p.=
XM_017004569.2:c.1427_1428del XP_016860058.1:p.Glu476GlyfsTer?
XM_017004570.2:c.1427_1428del XP_016860059.1:p.Glu476GlyfsTer?
XM_017004572.2:c.-1059_-1058del XP_016860061.1:p.=
XM_024453024.1:c.1088_1089del XP_024308792.1:p.Glu363GlyfsTer?
XM_024453025.1:c.-576_-575del XP_024308793.1:p.=
XR_001738864.2:n.1562_1563del
XR_001738865.2:n.1562_1563del
XR_001738866.2:n.1562_1563del
XR_001738867.2:n.1562_1563del
XR_002959320.1:n.680_681del
NM_020919.4:c.1427_1428del VV MANE Preferred NP_065970.2:p.Glu476GlyfsTer?
ENST00000264276.10:c.1427_1428del ENSP00000264276.6:p.Glu476GlyfsTer?
ENST00000482789.5:n.1567_1568del
ENST00000482891.5:n.1567_1568del