Canonical Allele Identifier: CA356570
Gene: ALS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 242671
ClinVar RCV Id: RCV000034989
dbSNP Id: rs386134185

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723389del , CM000664.2:g.201723389del GRCh38
NC_000002.11:g.202588112del , CM000664.1:g.202588112del GRCh37
NC_000002.10:g.202296357del NCBI36
NG_008775.1:g.62784del

Transcript Alleles

HGVS Amino-acid change
ENST00000264276.11:c.3565del MANE Select ENSP00000264276.6:p.Val1189TrpfsTer19
ENST00000439495.6:c.1243del ENSP00000403832.2:p.Val415TrpfsTer19
ENST00000482891.6:n.4333del
ENST00000494017.6:n.1297del
ENST00000679409.1:c.1243del ENSP00000506531.1:p.Val415TrpfsTer19
ENST00000679416.1:n.5069del
ENST00000679435.1:c.3565del ENSP00000505218.1:p.Val1189TrpfsTer19
ENST00000679516.1:c.3565del ENSP00000505187.1:p.Val1189TrpfsTer19
ENST00000679618.1:c.*653del ENSP00000506274.1:n.*653del
ENST00000679630.1:n.5414del
ENST00000679686.1:n.3679del
ENST00000679701.1:n.6557del
ENST00000679916.1:c.3565del ENSP00000506172.1:p.Val1189TrpfsTer19
ENST00000680000.1:c.3565del ENSP00000506173.1:p.Val1189TrpfsTer19
ENST00000680135.1:c.*1529del ENSP00000506211.1:n.*1529del
ENST00000680149.1:c.3565del ENSP00000506497.1:p.Val1189TrpfsTer19
ENST00000680163.1:c.3565del ENSP00000505092.1:p.Val1189TrpfsTer19
ENST00000680174.1:n.4256del
ENST00000680236.1:c.*626del ENSP00000506212.1:n.*626del
ENST00000680497.1:c.3667del ENSP00000505954.1:p.Val1223TrpfsTer19
ENST00000680508.1:c.3565del ENSP00000505749.1:p.Val1189TrpfsTer19
ENST00000680569.1:c.*1276del ENSP00000505522.1:n.*1276del
ENST00000680630.1:n.3997del
ENST00000680634.1:n.21-2900del
ENST00000680722.1:n.1365del
ENST00000680723.1:n.4348del
ENST00000680726.1:c.3565del ENSP00000505505.1:p.Val1189TrpfsTer19
ENST00000680737.1:n.3836del
ENST00000680759.1:c.3565del ENSP00000505848.1:p.Val1189TrpfsTer19
ENST00000680814.1:c.3565del ENSP00000505710.1:p.Val1189TrpfsTer19
ENST00000680828.1:c.*1137del ENSP00000505249.1:n.*1137del
ENST00000680861.1:c.3565del ENSP00000505043.1:p.Val1189TrpfsTer19
ENST00000680927.1:c.3565del ENSP00000505473.1:p.Val1189TrpfsTer19
ENST00000680939.1:n.3907del
ENST00000681152.1:c.3565del ENSP00000505388.1:p.Val1189TrpfsTer19
ENST00000681250.1:c.*282del ENSP00000505684.1:n.*282del
ENST00000681256.1:c.*1583del ENSP00000505446.1:n.*1583del
ENST00000681279.1:n.4333del
ENST00000681303.1:c.3565del ENSP00000505576.1:p.Val1189TrpfsTer19
ENST00000681307.1:n.4678del
ENST00000681461.1:n.4333del
ENST00000681495.1:c.1105del ENSP00000506085.1:p.Val369TrpfsTer19
ENST00000681558.1:c.1243del ENSP00000505568.1:p.Val415TrpfsTer19
ENST00000681619.1:c.3565del ENSP00000505071.1:p.Val1189TrpfsTer19
ENST00000681716.1:c.*1276del ENSP00000505078.1:n.*1276del
ENST00000681758.1:n.3907del
ENST00000681768.1:c.*1229del ENSP00000506311.1:n.*1229del
ENST00000681808.1:c.3565del ENSP00000505219.1:p.Val1189TrpfsTer19
ENST00000264276.10:c.3565del ENSP00000264276.6:p.Val1189TrpfsTer19
ENST00000439495.5:c.1526del
ENST00000482891.5:n.3705del
ENST00000489440.5:n.386del
NM_020919.3:c.3565del NP_065970.2:p.Val1189TrpfsTer19
XM_005246709.2:c.3565del XP_005246766.1:p.Val1189TrpfsTer19
XM_006712654.1:c.3565del XP_006712717.1:p.Val1189TrpfsTer19
XM_006712655.2:c.1501del XP_006712718.1:p.Val501TrpfsTer19
XM_011511530.1:c.3226del XP_011509832.1:p.Val1076TrpfsTer19
XM_011511531.1:c.3565del XP_011509833.1:p.Val1189TrpfsTer19
XR_922974.1:n.3700del
XM_006712654.3:c.3565del XP_006712717.1:p.Val1189TrpfsTer19
XM_006712655.3:c.1501del XP_006712718.1:p.Val501TrpfsTer19
XM_017004569.2:c.3565del XP_016860058.1:p.Val1189TrpfsTer19
XM_017004570.2:c.3565del XP_016860059.1:p.Val1189TrpfsTer19
XM_017004572.2:c.1183del XP_016860061.1:p.Val395TrpfsTer19
XM_024453024.1:c.3226del XP_024308792.1:p.Val1076TrpfsTer19
XM_024453025.1:c.1501del XP_024308793.1:p.Val501TrpfsTer19
XR_001738864.2:n.3700del
XR_001738865.2:n.3700del
XR_001738866.2:n.3700del
XR_001738867.2:n.3700del
XR_002959320.1:n.2756del
NM_020919.4:c.3565del MANE Select NP_065970.2:p.Val1189TrpfsTer19