Canonical Allele Identifier: CA340240
Gene: ALS2 HGNC NCBI

Linked Data

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

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
ENST00000264276.11:c.1427_1428del MANE Select ENSP00000264276.6:p.Glu476GlyfsTer?
ENST00000482789.6:n.1769_1770del
ENST00000482891.6:n.1769_1770del
ENST00000679416.1:n.1769_1770del
ENST00000679435.1:c.1427_1428del ENSP00000505218.1:p.Glu476GlyfsTer?
ENST00000679516.1:c.1427_1428del ENSP00000505187.1:p.Glu476GlyfsTer?
ENST00000679550.1:c.1427_1428del ENSP00000506193.1:p.Glu476GlyfsTer?
ENST00000679618.1:c.1427_1428del ENSP00000506274.1:p.Glu476GlyfsTer?
ENST00000679630.1:n.1769_1770del
ENST00000679686.1:n.1541_1542del
ENST00000679701.1:n.1769_1770del
ENST00000679916.1:c.1427_1428del ENSP00000506172.1:p.Glu476GlyfsTer?
ENST00000679939.1:c.1427_1428del ENSP00000505704.1:p.Glu476GlyfsTer?
ENST00000679949.1:c.1427_1428del ENSP00000505232.1:p.Glu476GlyfsTer?
ENST00000680000.1:c.1427_1428del ENSP00000506173.1:p.Glu476GlyfsTer?
ENST00000680135.1:c.1427_1428del ENSP00000506211.1:p.Glu476GlyfsTer?
ENST00000680149.1:c.1427_1428del ENSP00000506497.1:p.Glu476GlyfsTer?
ENST00000680163.1:c.1427_1428del ENSP00000505092.1:p.Glu476GlyfsTer?
ENST00000680174.1:n.1769_1770del
ENST00000680236.1:c.1427_1428del ENSP00000506212.1:p.Glu476GlyfsTer?
ENST00000680287.1:c.1427_1428del ENSP00000506547.1:p.Glu476GlyfsTer?
ENST00000680497.1:c.1427_1428del ENSP00000505954.1:p.Glu476GlyfsTer24
ENST00000680508.1:c.1427_1428del ENSP00000505749.1:p.Glu476GlyfsTer?
ENST00000680569.1:c.1427_1428del ENSP00000505522.1:p.Glu476GlyfsTer?
ENST00000680630.1:n.1769_1770del
ENST00000680644.1:c.1170+257_1170+258del ENSP00000505738.1:p.=
ENST00000680726.1:c.1427_1428del ENSP00000505505.1:p.Glu476GlyfsTer?
ENST00000680737.1:n.1769_1770del
ENST00000680759.1:c.1427_1428del ENSP00000505848.1:p.Glu476GlyfsTer?
ENST00000680814.1:c.1427_1428del ENSP00000505710.1:p.Glu476GlyfsTer?
ENST00000680828.1:c.1427_1428del ENSP00000505249.1:p.Glu476GlyfsTer?
ENST00000680861.1:c.1427_1428del ENSP00000505043.1:p.Glu476GlyfsTer?
ENST00000680927.1:c.1427_1428del ENSP00000505473.1:p.Glu476GlyfsTer?
ENST00000680939.1:n.1769_1770del
ENST00000681152.1:c.1427_1428del ENSP00000505388.1:p.Glu476GlyfsTer?
ENST00000681250.1:c.1427_1428del ENSP00000505684.1:p.Glu476GlyfsTer?
ENST00000681256.1:c.1427_1428del ENSP00000505446.1:p.Glu476GlyfsTer?
ENST00000681279.1:n.1769_1770del
ENST00000681303.1:c.1427_1428del ENSP00000505576.1:p.Glu476GlyfsTer?
ENST00000681307.1:n.1769_1770del
ENST00000681378.1:n.1769_1770del
ENST00000681461.1:n.1769_1770del
ENST00000681619.1:c.1427_1428del ENSP00000505071.1:p.Glu476GlyfsTer?
ENST00000681716.1:c.1427_1428del ENSP00000505078.1:p.Glu476GlyfsTer?
ENST00000681758.1:n.1769_1770del
ENST00000681768.1:c.1427_1428del ENSP00000506311.1:p.Glu476GlyfsTer?
ENST00000681808.1:c.1427_1428del ENSP00000505219.1:p.Glu476GlyfsTer?
ENST00000264276.10:c.1427_1428del ENSP00000264276.6:p.Glu476GlyfsTer?
ENST00000482789.5:n.1567_1568del
ENST00000482891.5:n.1567_1568del
NM_020919.3:c.1427_1428del 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 MANE Select NP_065970.2:p.Glu476GlyfsTer?