Canonical Allele Identifier: CA350320459
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704201G>T , CM000664.2:g.201704201G>T GRCh38
NC_000002.11:g.202568924G>T , CM000664.1:g.202568924G>T GRCh37
NC_000002.10:g.202277169G>T NCBI36
NG_008775.1:g.81972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4856C>A MANE Select ENSP00000264276.6:p.Ser1619Tyr
ENST00000439495.6:c.*1036C>A ENSP00000403832.2:n.*1036C>A
ENST00000679409.1:c.*1561C>A ENSP00000506531.1:n.*1561C>A
ENST00000679416.1:n.6360C>A
ENST00000679427.1:n.2527C>A
ENST00000679435.1:c.4856C>A ENSP00000505218.1:p.Ser1619Tyr
ENST00000679516.1:c.4856C>A ENSP00000505187.1:p.Ser1619Tyr
ENST00000679618.1:c.*1944C>A ENSP00000506274.1:n.*1944C>A
ENST00000679630.1:n.6705C>A
ENST00000679635.1:n.3118C>A
ENST00000679686.1:n.4970C>A
ENST00000679701.1:n.7848C>A
ENST00000679916.1:c.*1204C>A ENSP00000506172.1:n.*1204C>A
ENST00000680000.1:c.4856C>A ENSP00000506173.1:p.Ser1619Tyr
ENST00000680135.1:c.*2817C>A ENSP00000506211.1:n.*2817C>A
ENST00000680149.1:c.*138C>A ENSP00000506497.1:n.*138C>A
ENST00000680163.1:c.4856C>A ENSP00000505092.1:p.Ser1619Tyr
ENST00000680174.1:n.5547C>A
ENST00000680236.1:c.*1917C>A ENSP00000506212.1:n.*1917C>A
ENST00000680404.1:n.371C>A
ENST00000680441.1:n.3414C>A
ENST00000680497.1:c.4958C>A ENSP00000505954.1:p.Ser1653Tyr
ENST00000680508.1:c.*12C>A ENSP00000505749.1:n.*12C>A
ENST00000680569.1:c.*2799C>A ENSP00000505522.1:n.*2799C>A
ENST00000680634.1:n.1364C>A
ENST00000680722.1:n.2656C>A
ENST00000680726.1:c.*138C>A ENSP00000505505.1:n.*138C>A
ENST00000680759.1:c.4688C>A ENSP00000505848.1:p.Ser1563Tyr
ENST00000680814.1:c.4838+253C>A ENSP00000505710.1:n.4838+253C>A
ENST00000680828.1:c.*2550C>A ENSP00000505249.1:n.*2550C>A
ENST00000680861.1:c.4856C>A ENSP00000505043.1:p.Ser1619Tyr
ENST00000680927.1:c.*1036C>A ENSP00000505473.1:n.*1036C>A
ENST00000680939.1:n.6797C>A
ENST00000681250.1:c.*1573C>A ENSP00000505684.1:n.*1573C>A
ENST00000681256.1:c.*2871C>A ENSP00000505446.1:n.*2871C>A
ENST00000681279.1:n.5722C>A
ENST00000681307.1:n.5969C>A
ENST00000681461.1:n.5624C>A
ENST00000681495.1:c.2393C>A ENSP00000506085.1:p.Ser798Tyr
ENST00000681558.1:c.2534C>A ENSP00000505568.1:p.Ser845Tyr
ENST00000681619.1:c.4853C>A ENSP00000505071.1:p.Ser1618Tyr
ENST00000681663.1:n.1762C>A
ENST00000681692.1:n.2816C>A
ENST00000681716.1:c.*2710C>A ENSP00000505078.1:n.*2710C>A
ENST00000681768.1:c.*2520C>A ENSP00000506311.1:n.*2520C>A
ENST00000681808.1:c.4679C>A ENSP00000505219.1:p.Ser1560Tyr
ENST00000264276.10:c.4856C>A ENSP00000264276.6:p.Ser1619Tyr
ENST00000439495.5:c.2960C>A
NM_020919.3:c.4856C>A NP_065970.2:p.Ser1619Tyr
XM_005246709.2:c.4853C>A XP_005246766.1:p.Ser1618Tyr
XM_006712654.1:c.4856C>A XP_006712717.1:p.Ser1619Tyr
XM_006712655.2:c.2792C>A XP_006712718.1:p.Ser931Tyr
XM_011511530.1:c.4517C>A XP_011509832.1:p.Ser1506Tyr
XR_922974.1:n.5134C>A
XM_006712654.3:c.4856C>A XP_006712717.1:p.Ser1619Tyr
XM_006712655.3:c.2792C>A XP_006712718.1:p.Ser931Tyr
XM_017004569.2:c.4853C>A XP_016860058.1:p.Ser1618Tyr
XM_017004572.2:c.2474C>A XP_016860061.1:p.Ser825Tyr
XM_024453024.1:c.4517C>A XP_024308792.1:p.Ser1506Tyr
XM_024453025.1:c.2789C>A XP_024308793.1:p.Ser930Tyr
XR_001738864.2:n.4971C>A
XR_001738865.2:n.4968C>A
XR_001738866.2:n.5134C>A
XR_001738867.2:n.5131C>A
XR_002959320.1:n.4027C>A
NM_020919.4:c.4856C>A MANE Select NP_065970.2:p.Ser1619Tyr