Canonical Allele Identifier: CA1321178700
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201724459G= , CM000664.2:g.201724459G= GRCh38
NC_000002.11:g.202589182G= , CM000664.1:g.202589182G= GRCh37
NC_000002.10:g.202297427G= NCBI36
NG_008775.1:g.61714C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3348C= MANE Select ENSP00000264276.6:p.Ser1116=
ENST00000439495.6:c.1026C= ENSP00000403832.2:p.Ser342=
ENST00000482891.6:n.4116C=
ENST00000494017.6:n.1080C=
ENST00000679409.1:c.1026C= ENSP00000506531.1:p.Ser342=
ENST00000679416.1:n.4852C=
ENST00000679435.1:c.3348C= ENSP00000505218.1:p.Ser1116=
ENST00000679516.1:c.3348C= ENSP00000505187.1:p.Ser1116=
ENST00000679618.1:c.*436C= ENSP00000506274.1:n.*436C=
ENST00000679630.1:n.5197C=
ENST00000679686.1:n.3462C=
ENST00000679701.1:n.6340C=
ENST00000679916.1:c.3348C= ENSP00000506172.1:p.Ser1116=
ENST00000680000.1:c.3348C= ENSP00000506173.1:p.Ser1116=
ENST00000680135.1:c.*1312C= ENSP00000506211.1:n.*1312C=
ENST00000680149.1:c.3348C= ENSP00000506497.1:p.Ser1116=
ENST00000680163.1:c.3348C= ENSP00000505092.1:p.Ser1116=
ENST00000680174.1:n.4039C=
ENST00000680236.1:c.*409C= ENSP00000506212.1:n.*409C=
ENST00000680497.1:c.3450C= ENSP00000505954.1:p.Ser1150=
ENST00000680508.1:c.3348C= ENSP00000505749.1:p.Ser1116=
ENST00000680569.1:c.*1059C= ENSP00000505522.1:n.*1059C=
ENST00000680630.1:n.3780C=
ENST00000680634.1:n.21-3970C=
ENST00000680722.1:n.1148C=
ENST00000680723.1:n.4131C=
ENST00000680726.1:c.3348C= ENSP00000505505.1:p.Ser1116=
ENST00000680737.1:n.3619C=
ENST00000680759.1:c.3348C= ENSP00000505848.1:p.Ser1116=
ENST00000680814.1:c.3348C= ENSP00000505710.1:p.Ser1116=
ENST00000680828.1:c.*920C= ENSP00000505249.1:n.*920C=
ENST00000680861.1:c.3348C= ENSP00000505043.1:p.Ser1116=
ENST00000680927.1:c.3348C= ENSP00000505473.1:p.Ser1116=
ENST00000680939.1:n.3690C=
ENST00000681152.1:c.3348C= ENSP00000505388.1:p.Ser1116=
ENST00000681250.1:c.*65C= ENSP00000505684.1:n.*65C=
ENST00000681256.1:c.*1366C= ENSP00000505446.1:n.*1366C=
ENST00000681279.1:n.4116C=
ENST00000681303.1:c.3348C= ENSP00000505576.1:p.Ser1116=
ENST00000681307.1:n.4461C=
ENST00000681461.1:n.4116C=
ENST00000681495.1:c.888C= ENSP00000506085.1:p.Ser296=
ENST00000681558.1:c.1026C= ENSP00000505568.1:p.Ser342=
ENST00000681619.1:c.3348C= ENSP00000505071.1:p.Ser1116=
ENST00000681716.1:c.*1059C= ENSP00000505078.1:n.*1059C=
ENST00000681758.1:n.3690C=
ENST00000681768.1:c.*1012C= ENSP00000506311.1:n.*1012C=
ENST00000681808.1:c.3348C= ENSP00000505219.1:p.Ser1116=
ENST00000264276.10:c.3348C= ENSP00000264276.6:p.Ser1116=
ENST00000439495.5:c.1309C=
ENST00000482891.5:n.3488C=
ENST00000489440.5:n.169C=
NM_020919.3:c.3348C= NP_065970.2:p.Ser1116=
XM_005246709.2:c.3348C= XP_005246766.1:p.Ser1116=
XM_006712654.1:c.3348C= XP_006712717.1:p.Ser1116=
XM_006712655.2:c.1284C= XP_006712718.1:p.Ser428=
XM_011511530.1:c.3009C= XP_011509832.1:p.Ser1003=
XM_011511531.1:c.3348C= XP_011509833.1:p.Ser1116=
XR_922974.1:n.3483C=
XM_006712654.3:c.3348C= XP_006712717.1:p.Ser1116=
XM_006712655.3:c.1284C= XP_006712718.1:p.Ser428=
XM_017004569.2:c.3348C= XP_016860058.1:p.Ser1116=
XM_017004570.2:c.3348C= XP_016860059.1:p.Ser1116=
XM_017004572.2:c.966C= XP_016860061.1:p.Ser322=
XM_024453024.1:c.3009C= XP_024308792.1:p.Ser1003=
XM_024453025.1:c.1284C= XP_024308793.1:p.Ser428=
XR_001738864.2:n.3483C=
XR_001738865.2:n.3483C=
XR_001738866.2:n.3483C=
XR_001738867.2:n.3483C=
XR_002959320.1:n.2539C=
NM_020919.4:c.3348C= MANE Select NP_065970.2:p.Ser1116=