Canonical Allele Identifier: CA350320573
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704455T>A , CM000664.2:g.201704455T>A GRCh38
NC_000002.11:g.202569178T>A , CM000664.1:g.202569178T>A GRCh37
NC_000002.10:g.202277423T>A NCBI36
NG_008775.1:g.81718A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4837A>T MANE Select ENSP00000264276.6:p.Arg1613Trp
ENST00000439495.6:c.*1017A>T ENSP00000403832.2:n.*1017A>T
ENST00000679409.1:c.*1307A>T ENSP00000506531.1:n.*1307A>T
ENST00000679416.1:n.6341A>T
ENST00000679427.1:n.2273A>T
ENST00000679435.1:c.4837A>T ENSP00000505218.1:p.Arg1613Trp
ENST00000679516.1:c.4837A>T ENSP00000505187.1:p.Arg1613Trp
ENST00000679618.1:c.*1925A>T ENSP00000506274.1:n.*1925A>T
ENST00000679630.1:n.6686A>T
ENST00000679635.1:n.2864A>T
ENST00000679686.1:n.4951A>T
ENST00000679701.1:n.7829A>T
ENST00000679916.1:c.*1185A>T ENSP00000506172.1:n.*1185A>T
ENST00000680000.1:c.4837A>T ENSP00000506173.1:p.Arg1613Trp
ENST00000680135.1:c.*2798A>T ENSP00000506211.1:n.*2798A>T
ENST00000680149.1:c.*119A>T ENSP00000506497.1:n.*119A>T
ENST00000680163.1:c.4837A>T ENSP00000505092.1:p.Arg1613Trp
ENST00000680174.1:n.5528A>T
ENST00000680236.1:c.*1898A>T ENSP00000506212.1:n.*1898A>T
ENST00000680404.1:n.352A>T
ENST00000680441.1:n.3395A>T
ENST00000680497.1:c.4939A>T ENSP00000505954.1:p.Arg1647Trp
ENST00000680508.1:c.4834A>T ENSP00000505749.1:p.Ser1612Cys
ENST00000680569.1:c.*2545A>T ENSP00000505522.1:n.*2545A>T
ENST00000680634.1:n.1345A>T
ENST00000680722.1:n.2637A>T
ENST00000680726.1:c.*119A>T ENSP00000505505.1:n.*119A>T
ENST00000680759.1:c.4669A>T ENSP00000505848.1:p.Arg1557Trp
ENST00000680814.1:c.4837A>T ENSP00000505710.1:p.Arg1613Ter
ENST00000680828.1:c.*2531A>T ENSP00000505249.1:n.*2531A>T
ENST00000680861.1:c.4837A>T ENSP00000505043.1:p.Arg1613Trp
ENST00000680927.1:c.*1017A>T ENSP00000505473.1:n.*1017A>T
ENST00000680939.1:n.6543A>T
ENST00000681250.1:c.*1554A>T ENSP00000505684.1:n.*1554A>T
ENST00000681256.1:c.*2852A>T ENSP00000505446.1:n.*2852A>T
ENST00000681279.1:n.5703A>T
ENST00000681307.1:n.5950A>T
ENST00000681461.1:n.5605A>T
ENST00000681495.1:c.2374A>T ENSP00000506085.1:p.Arg792Trp
ENST00000681558.1:c.2515A>T ENSP00000505568.1:p.Arg839Trp
ENST00000681619.1:c.4834A>T ENSP00000505071.1:p.Arg1612Trp
ENST00000681663.1:n.1743A>T
ENST00000681692.1:n.2797A>T
ENST00000681716.1:c.*2691A>T ENSP00000505078.1:n.*2691A>T
ENST00000681768.1:c.*2501A>T ENSP00000506311.1:n.*2501A>T
ENST00000681808.1:c.4660A>T ENSP00000505219.1:p.Arg1554Trp
ENST00000264276.10:c.4837A>T ENSP00000264276.6:p.Arg1613Trp
ENST00000439495.5:c.2941A>T
NM_020919.3:c.4837A>T NP_065970.2:p.Arg1613Trp
XM_005246709.2:c.4834A>T XP_005246766.1:p.Arg1612Trp
XM_006712654.1:c.4837A>T XP_006712717.1:p.Arg1613Trp
XM_006712655.2:c.2773A>T XP_006712718.1:p.Arg925Trp
XM_011511530.1:c.4498A>T XP_011509832.1:p.Arg1500Trp
XR_922974.1:n.5115A>T
XM_006712654.3:c.4837A>T XP_006712717.1:p.Arg1613Trp
XM_006712655.3:c.2773A>T XP_006712718.1:p.Arg925Trp
XM_017004569.2:c.4834A>T XP_016860058.1:p.Arg1612Trp
XM_017004572.2:c.2455A>T XP_016860061.1:p.Arg819Trp
XM_024453024.1:c.4498A>T XP_024308792.1:p.Arg1500Trp
XM_024453025.1:c.2770A>T XP_024308793.1:p.Arg924Trp
XR_001738864.2:n.4952A>T
XR_001738865.2:n.4949A>T
XR_001738866.2:n.5115A>T
XR_001738867.2:n.5112A>T
XR_002959320.1:n.4008A>T
NM_020919.4:c.4837A>T MANE Select NP_065970.2:p.Arg1613Trp