Canonical Allele Identifier: CA2057571
Community Standard Title: NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201707011G>A , CM000664.2:g.201707011G>A GRCh38
NC_000002.11:g.202571734G>A , CM000664.1:g.202571734G>A GRCh37
NC_000002.10:g.202279979G>A NCBI36
NG_008775.1:g.79162C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4415C>T MANE Select NP_065970.2:p.Thr1472Met
ENST00000264276.11:c.4415C>T MANE Select ENSP00000264276.6:p.Thr1472Met
NM_020919.3:c.4415C>T NP_065970.2:p.Thr1472Met
ENST00000264276.10:c.4415C>T ENSP00000264276.6:p.Thr1472Met
ENST00000439495.5:c.2519C>T
ENST00000439495.6:c.*595C>T ENSP00000403832.2:n.*595C>T
ENST00000679409.1:c.*885C>T ENSP00000506531.1:n.*885C>T
ENST00000679416.1:n.5919C>T
ENST00000679427.1:n.1851C>T
ENST00000679435.1:c.4415C>T ENSP00000505218.1:p.Thr1472Met
ENST00000679516.1:c.4415C>T ENSP00000505187.1:p.Thr1472Met
ENST00000679618.1:c.*1503C>T ENSP00000506274.1:n.*1503C>T
ENST00000679630.1:n.6264C>T
ENST00000679635.1:n.2442C>T
ENST00000679686.1:n.4529C>T
ENST00000679701.1:n.7407C>T
ENST00000679916.1:c.*763C>T ENSP00000506172.1:n.*763C>T
ENST00000680000.1:c.4415C>T ENSP00000506173.1:p.Thr1472Met
ENST00000680135.1:c.*2376C>T ENSP00000506211.1:n.*2376C>T
ENST00000680149.1:c.4412C>T ENSP00000506497.1:p.Thr1471Met
ENST00000680163.1:c.4415C>T ENSP00000505092.1:p.Thr1472Met
ENST00000680174.1:n.5106C>T
ENST00000680236.1:c.*1476C>T ENSP00000506212.1:n.*1476C>T
ENST00000680441.1:n.2973C>T
ENST00000680497.1:c.4517C>T ENSP00000505954.1:p.Thr1506Met
ENST00000680508.1:c.4412C>T ENSP00000505749.1:p.Thr1471Met
ENST00000680569.1:c.*2123C>T ENSP00000505522.1:n.*2123C>T
ENST00000680634.1:n.923C>T
ENST00000680722.1:n.2215C>T
ENST00000680726.1:c.4415C>T ENSP00000505505.1:p.Thr1472Met
ENST00000680759.1:c.4247C>T ENSP00000505848.1:p.Thr1416Met
ENST00000680814.1:c.4415C>T ENSP00000505710.1:p.Thr1472Met
ENST00000680828.1:c.*2109C>T ENSP00000505249.1:n.*2109C>T
ENST00000680861.1:c.4415C>T ENSP00000505043.1:p.Thr1472Met
ENST00000680927.1:c.*595C>T ENSP00000505473.1:n.*595C>T
ENST00000680939.1:n.4757C>T
ENST00000681250.1:c.*1132C>T ENSP00000505684.1:n.*1132C>T
ENST00000681256.1:c.*2430C>T ENSP00000505446.1:n.*2430C>T
ENST00000681279.1:n.5281C>T
ENST00000681307.1:n.5528C>T
ENST00000681461.1:n.5183C>T
ENST00000681495.1:c.1952C>T ENSP00000506085.1:p.Thr651Met
ENST00000681558.1:c.2093C>T ENSP00000505568.1:p.Thr698Met
ENST00000681619.1:c.4412C>T ENSP00000505071.1:p.Thr1471Met
ENST00000681663.1:n.1321C>T
ENST00000681692.1:n.2375C>T
ENST00000681716.1:c.*2269C>T ENSP00000505078.1:n.*2269C>T
ENST00000681768.1:c.*2079C>T ENSP00000506311.1:n.*2079C>T
ENST00000681808.1:c.4403+858C>T ENSP00000505219.1:n.4403+858C>T
XM_005246709.2:c.4412C>T XP_005246766.1:p.Thr1471Met
XM_006712654.1:c.4415C>T XP_006712717.1:p.Thr1472Met
XM_006712654.3:c.4415C>T XP_006712717.1:p.Thr1472Met
XM_006712655.2:c.2351C>T XP_006712718.1:p.Thr784Met
XM_006712655.3:c.2351C>T XP_006712718.1:p.Thr784Met
XM_011511530.1:c.4076C>T XP_011509832.1:p.Thr1359Met
XM_017004569.2:c.4412C>T XP_016860058.1:p.Thr1471Met
XM_017004572.2:c.2033C>T XP_016860061.1:p.Thr678Met
XM_024453024.1:c.4076C>T XP_024308792.1:p.Thr1359Met
XM_024453025.1:c.2348C>T XP_024308793.1:p.Thr783Met
XR_001738864.2:n.4550C>T
XR_001738865.2:n.4547C>T
XR_001738866.2:n.4693C>T
XR_001738867.2:n.4690C>T
XR_002959320.1:n.3606C>T
XR_922974.1:n.4693C>T