Canonical Allele Identifier: CA350320151
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704126A>T , CM000664.2:g.201704126A>T GRCh38
NC_000002.11:g.202568849A>T , CM000664.1:g.202568849A>T GRCh37
NC_000002.10:g.202277094A>T NCBI36
NG_008775.1:g.82047T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4931T>A MANE Select ENSP00000264276.6:p.Leu1644Ter
ENST00000439495.6:c.*1111T>A ENSP00000403832.2:n.*1111T>A
ENST00000679409.1:c.*1636T>A ENSP00000506531.1:n.*1636T>A
ENST00000679416.1:n.6435T>A
ENST00000679427.1:n.2602T>A
ENST00000679435.1:c.4931T>A ENSP00000505218.1:p.Leu1644Ter
ENST00000679516.1:c.4931T>A ENSP00000505187.1:p.Leu1644Ter
ENST00000679618.1:c.*2019T>A ENSP00000506274.1:n.*2019T>A
ENST00000679630.1:n.6780T>A
ENST00000679635.1:n.3193T>A
ENST00000679686.1:n.5045T>A
ENST00000679701.1:n.7923T>A
ENST00000679916.1:c.*1279T>A ENSP00000506172.1:n.*1279T>A
ENST00000680000.1:c.4931T>A ENSP00000506173.1:p.Leu1644Ter
ENST00000680135.1:c.*2892T>A ENSP00000506211.1:n.*2892T>A
ENST00000680149.1:c.*213T>A ENSP00000506497.1:n.*213T>A
ENST00000680163.1:c.4931T>A ENSP00000505092.1:p.Leu1644Ter
ENST00000680174.1:n.5622T>A
ENST00000680236.1:c.*1992T>A ENSP00000506212.1:n.*1992T>A
ENST00000680404.1:n.446T>A
ENST00000680441.1:n.3489T>A
ENST00000680497.1:c.5033T>A ENSP00000505954.1:p.Leu1678Ter
ENST00000680508.1:c.*87T>A ENSP00000505749.1:n.*87T>A
ENST00000680569.1:c.*2874T>A ENSP00000505522.1:n.*2874T>A
ENST00000680634.1:n.1439T>A
ENST00000680722.1:n.2731T>A
ENST00000680726.1:c.*213T>A ENSP00000505505.1:n.*213T>A
ENST00000680759.1:c.4763T>A ENSP00000505848.1:p.Leu1588Ter
ENST00000680814.1:c.4838+328T>A ENSP00000505710.1:n.4838+328T>A
ENST00000680828.1:c.*2625T>A ENSP00000505249.1:n.*2625T>A
ENST00000680861.1:c.4931T>A ENSP00000505043.1:p.Leu1644Ter
ENST00000680927.1:c.*1111T>A ENSP00000505473.1:n.*1111T>A
ENST00000680939.1:n.6872T>A
ENST00000681250.1:c.*1648T>A ENSP00000505684.1:n.*1648T>A
ENST00000681256.1:c.*2946T>A ENSP00000505446.1:n.*2946T>A
ENST00000681279.1:n.5797T>A
ENST00000681307.1:n.6044T>A
ENST00000681461.1:n.5699T>A
ENST00000681495.1:c.2468T>A ENSP00000506085.1:p.Leu823Ter
ENST00000681558.1:c.2609T>A ENSP00000505568.1:p.Leu870Ter
ENST00000681619.1:c.4928T>A ENSP00000505071.1:p.Leu1643Ter
ENST00000681663.1:n.1837T>A
ENST00000681692.1:n.2891T>A
ENST00000681716.1:c.*2785T>A ENSP00000505078.1:n.*2785T>A
ENST00000681768.1:c.*2595T>A ENSP00000506311.1:n.*2595T>A
ENST00000681808.1:c.4754T>A ENSP00000505219.1:p.Leu1585Ter
ENST00000264276.10:c.4931T>A ENSP00000264276.6:p.Leu1644Ter
ENST00000439495.5:c.3035T>A
NM_020919.3:c.4931T>A NP_065970.2:p.Leu1644Ter
XM_005246709.2:c.4928T>A XP_005246766.1:p.Leu1643Ter
XM_006712654.1:c.4931T>A XP_006712717.1:p.Leu1644Ter
XM_006712655.2:c.2867T>A XP_006712718.1:p.Leu956Ter
XM_011511530.1:c.4592T>A XP_011509832.1:p.Leu1531Ter
XR_922974.1:n.5209T>A
XM_006712654.3:c.4931T>A XP_006712717.1:p.Leu1644Ter
XM_006712655.3:c.2867T>A XP_006712718.1:p.Leu956Ter
XM_017004569.2:c.4928T>A XP_016860058.1:p.Leu1643Ter
XM_017004572.2:c.2549T>A XP_016860061.1:p.Leu850Ter
XM_024453024.1:c.4592T>A XP_024308792.1:p.Leu1531Ter
XM_024453025.1:c.2864T>A XP_024308793.1:p.Leu955Ter
XR_001738864.2:n.5046T>A
XR_001738865.2:n.5043T>A
XR_001738866.2:n.5209T>A
XR_001738867.2:n.5206T>A
XR_002959320.1:n.4102T>A
NM_020919.4:c.4931T>A MANE Select NP_065970.2:p.Leu1644Ter