Canonical Allele Identifier: CA340245
Gene: ALS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4410
ClinVar RCV Id: RCV000004660
dbSNP Id: rs386134183

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201733318_201733319del , CM000664.2:g.201733318_201733319del GRCh38
NC_000002.11:g.202598041_202598042del , CM000664.1:g.202598041_202598042del GRCh37
NC_000002.10:g.202306286_202306287del NCBI36
NG_008775.1:g.52854_52855del

Transcript Alleles

HGVS Amino-acid change
ENST00000264276.11:c.2537_2538del MANE Select ENSP00000264276.6:p.Asn846IlefsTer13
ENST00000439495.6:c.215_216del ENSP00000403832.2:p.Asn72IlefsTer13
ENST00000482789.6:n.2879_2880del
ENST00000482891.6:n.2879_2880del
ENST00000494017.6:n.269_270del
ENST00000679409.1:c.215_216del ENSP00000506531.1:p.Asn72IlefsTer13
ENST00000679416.1:n.2879_2880del
ENST00000679435.1:c.2537_2538del ENSP00000505218.1:p.Asn846IlefsTer13
ENST00000679516.1:c.2537_2538del ENSP00000505187.1:p.Asn846IlefsTer13
ENST00000679618.1:c.2537_2538del ENSP00000506274.1:p.Asn846IlefsTer13
ENST00000679630.1:n.2879_2880del
ENST00000679686.1:n.2651_2652del
ENST00000679701.1:n.2879_2880del
ENST00000679916.1:c.2537_2538del ENSP00000506172.1:p.Asn846IlefsTer13
ENST00000680000.1:c.2537_2538del ENSP00000506173.1:p.Asn846IlefsTer13
ENST00000680135.1:c.*501_*502del ENSP00000506211.1:n.*501_*502del
ENST00000680149.1:c.2537_2538del ENSP00000506497.1:p.Asn846IlefsTer13
ENST00000680163.1:c.2537_2538del ENSP00000505092.1:p.Asn846IlefsTer13
ENST00000680174.1:n.2817_2818del
ENST00000680236.1:c.2537_2538del ENSP00000506212.1:p.Asn846IlefsTer13
ENST00000680497.1:c.2639_2640del ENSP00000505954.1:p.Asn880IlefsTer13
ENST00000680508.1:c.2537_2538del ENSP00000505749.1:p.Asn846IlefsTer13
ENST00000680569.1:c.*248_*249del ENSP00000505522.1:n.*248_*249del
ENST00000680630.1:n.2969_2970del
ENST00000680634.1:n.20+5708_20+5709del
ENST00000680723.1:n.670_671del
ENST00000680726.1:c.2537_2538del ENSP00000505505.1:p.Asn846IlefsTer13
ENST00000680737.1:n.2879_2880del
ENST00000680759.1:c.2537_2538del ENSP00000505848.1:p.Asn846IlefsTer13
ENST00000680814.1:c.2537_2538del ENSP00000505710.1:p.Asn846IlefsTer13
ENST00000680828.1:c.*109_*110del ENSP00000505249.1:n.*109_*110del
ENST00000680861.1:c.2537_2538del ENSP00000505043.1:p.Asn846IlefsTer13
ENST00000680927.1:c.2537_2538del ENSP00000505473.1:p.Asn846IlefsTer13
ENST00000680939.1:n.2879_2880del
ENST00000681152.1:c.2537_2538del ENSP00000505388.1:p.Asn846IlefsTer13
ENST00000681250.1:c.1472-7865_1472-7864del ENSP00000505684.1:n.1472-7865_1472-7864de...
ENST00000681256.1:c.*129_*130del ENSP00000505446.1:n.*129_*130del
ENST00000681279.1:n.2879_2880del
ENST00000681303.1:c.2537_2538del ENSP00000505576.1:p.Asn846IlefsTer13
ENST00000681307.1:n.2879_2880del
ENST00000681461.1:n.2879_2880del
ENST00000681495.1:c.215_216del ENSP00000506085.1:p.Asn72IlefsTer13
ENST00000681558.1:c.215_216del ENSP00000505568.1:p.Asn72IlefsTer13
ENST00000681619.1:c.2537_2538del ENSP00000505071.1:p.Asn846IlefsTer13
ENST00000681716.1:c.*248_*249del ENSP00000505078.1:n.*248_*249del
ENST00000681758.1:n.2879_2880del
ENST00000681768.1:c.*201_*202del ENSP00000506311.1:n.*201_*202del
ENST00000681808.1:c.2537_2538del ENSP00000505219.1:p.Asn846IlefsTer13
ENST00000264276.10:c.2537_2538del ENSP00000264276.6:p.Asn846IlefsTer13
ENST00000439495.5:c.498_499del
ENST00000482891.5:n.2677_2678del
ENST00000483703.1:n.307_308del
ENST00000494017.5:n.135_136del
NM_020919.3:c.2537_2538del NP_065970.2:p.Asn846IlefsTer13
XM_005246709.2:c.2537_2538del XP_005246766.1:p.Asn846IlefsTer13
XM_006712654.1:c.2537_2538del XP_006712717.1:p.Asn846IlefsTer13
XM_006712655.2:c.473_474del XP_006712718.1:p.Asn158IlefsTer13
XM_011511530.1:c.2198_2199del XP_011509832.1:p.Asn733IlefsTer13
XM_011511531.1:c.2537_2538del XP_011509833.1:p.Asn846IlefsTer13
XR_922974.1:n.2672_2673del
XM_006712654.3:c.2537_2538del XP_006712717.1:p.Asn846IlefsTer13
XM_006712655.3:c.473_474del XP_006712718.1:p.Asn158IlefsTer13
XM_017004569.2:c.2537_2538del XP_016860058.1:p.Asn846IlefsTer13
XM_017004570.2:c.2537_2538del XP_016860059.1:p.Asn846IlefsTer13
XM_017004572.2:c.155_156del XP_016860061.1:p.Asn52IlefsTer13
XM_024453024.1:c.2198_2199del XP_024308792.1:p.Asn733IlefsTer13
XM_024453025.1:c.473_474del XP_024308793.1:p.Asn158IlefsTer13
XR_001738864.2:n.2672_2673del
XR_001738865.2:n.2672_2673del
XR_001738866.2:n.2672_2673del
XR_001738867.2:n.2672_2673del
XR_002959320.1:n.1728_1729del
NM_020919.4:c.2537_2538del MANE Select NP_065970.2:p.Asn846IlefsTer13