Canonical Allele Identifier: CA430668924
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201707940A>T , CM000664.2:g.201707940A>T GRCh38
NC_000002.11:g.202572663A>T , CM000664.1:g.202572663A>T GRCh37
NC_000002.10:g.202280908A>T NCBI36
NG_008775.1:g.78233T>A

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4332T>A MANE Select NP_065970.2:p.Ala1444=
ENST00000264276.11:c.4332T>A MANE Select ENSP00000264276.6:p.Ala1444=
NM_020919.3:c.4332T>A NP_065970.2:p.Ala1444=
ENST00000264276.10:c.4332T>A ENSP00000264276.6:p.Ala1444=
ENST00000439495.5:c.2436T>A
ENST00000439495.6:c.*512T>A ENSP00000403832.2:n.*512T>A
ENST00000679409.1:c.*802T>A ENSP00000506531.1:n.*802T>A
ENST00000679416.1:n.5836T>A
ENST00000679427.1:n.1768T>A
ENST00000679435.1:c.4332T>A ENSP00000505218.1:p.Ala1444=
ENST00000679516.1:c.4332T>A ENSP00000505187.1:p.Ala1444=
ENST00000679618.1:c.*1420T>A ENSP00000506274.1:n.*1420T>A
ENST00000679630.1:n.6181T>A
ENST00000679635.1:n.2359T>A
ENST00000679686.1:n.4446T>A
ENST00000679701.1:n.7324T>A
ENST00000679916.1:c.*680T>A ENSP00000506172.1:n.*680T>A
ENST00000680000.1:c.4332T>A ENSP00000506173.1:p.Ala1444=
ENST00000680135.1:c.*2293T>A ENSP00000506211.1:n.*2293T>A
ENST00000680149.1:c.4329T>A ENSP00000506497.1:p.Ala1443=
ENST00000680163.1:c.4332T>A ENSP00000505092.1:p.Ala1444=
ENST00000680174.1:n.5023T>A
ENST00000680236.1:c.*1393T>A ENSP00000506212.1:n.*1393T>A
ENST00000680441.1:n.2890T>A
ENST00000680497.1:c.4434T>A ENSP00000505954.1:p.Ala1478=
ENST00000680508.1:c.4329T>A ENSP00000505749.1:p.Ala1443=
ENST00000680569.1:c.*2040T>A ENSP00000505522.1:n.*2040T>A
ENST00000680634.1:n.840T>A
ENST00000680722.1:n.2132T>A
ENST00000680726.1:c.4332T>A ENSP00000505505.1:p.Ala1444=
ENST00000680759.1:c.4164T>A ENSP00000505848.1:p.Ala1388=
ENST00000680814.1:c.4332T>A ENSP00000505710.1:p.Ala1444=
ENST00000680828.1:c.*2026T>A ENSP00000505249.1:n.*2026T>A
ENST00000680861.1:c.4332T>A ENSP00000505043.1:p.Ala1444=
ENST00000680927.1:c.*512T>A ENSP00000505473.1:n.*512T>A
ENST00000680939.1:n.4674T>A
ENST00000681250.1:c.*1049T>A ENSP00000505684.1:n.*1049T>A
ENST00000681256.1:c.*2347T>A ENSP00000505446.1:n.*2347T>A
ENST00000681279.1:n.5198T>A
ENST00000681307.1:n.5445T>A
ENST00000681461.1:n.5100T>A
ENST00000681495.1:c.1869T>A ENSP00000506085.1:p.Ala623=
ENST00000681558.1:c.2010T>A ENSP00000505568.1:p.Ala670=
ENST00000681619.1:c.4329T>A ENSP00000505071.1:p.Ala1443=
ENST00000681663.1:n.1238T>A
ENST00000681692.1:n.2292T>A
ENST00000681716.1:c.*2186T>A ENSP00000505078.1:n.*2186T>A
ENST00000681768.1:c.*1996T>A ENSP00000506311.1:n.*1996T>A
ENST00000681808.1:c.4332T>A ENSP00000505219.1:p.Ala1444=
XM_005246709.2:c.4329T>A XP_005246766.1:p.Ala1443=
XM_006712654.1:c.4332T>A XP_006712717.1:p.Ala1444=
XM_006712654.3:c.4332T>A XP_006712717.1:p.Ala1444=
XM_006712655.2:c.2268T>A XP_006712718.1:p.Ala756=
XM_006712655.3:c.2268T>A XP_006712718.1:p.Ala756=
XM_011511530.1:c.3993T>A XP_011509832.1:p.Ala1331=
XM_017004569.2:c.4329T>A XP_016860058.1:p.Ala1443=
XM_017004572.2:c.1950T>A XP_016860061.1:p.Ala650=
XM_024453024.1:c.3993T>A XP_024308792.1:p.Ala1331=
XM_024453025.1:c.2265T>A XP_024308793.1:p.Ala755=
XR_001738864.2:n.4467T>A
XR_001738865.2:n.4464T>A
XR_001738866.2:n.4610T>A
XR_001738867.2:n.4607T>A
XR_002959320.1:n.3523T>A
XR_922974.1:n.4610T>A