Canonical Allele Identifier: CA350320481
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704207A>G , CM000664.2:g.201704207A>G GRCh38
NC_000002.11:g.202568930A>G , CM000664.1:g.202568930A>G GRCh37
NC_000002.10:g.202277175A>G NCBI36
NG_008775.1:g.81966T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4850T>C MANE Select ENSP00000264276.6:p.Leu1617Ser
ENST00000439495.6:c.*1030T>C ENSP00000403832.2:n.*1030T>C
ENST00000679409.1:c.*1555T>C ENSP00000506531.1:n.*1555T>C
ENST00000679416.1:n.6354T>C
ENST00000679427.1:n.2521T>C
ENST00000679435.1:c.4850T>C ENSP00000505218.1:p.Leu1617Ser
ENST00000679516.1:c.4850T>C ENSP00000505187.1:p.Leu1617Ser
ENST00000679618.1:c.*1938T>C ENSP00000506274.1:n.*1938T>C
ENST00000679630.1:n.6699T>C
ENST00000679635.1:n.3112T>C
ENST00000679686.1:n.4964T>C
ENST00000679701.1:n.7842T>C
ENST00000679916.1:c.*1198T>C ENSP00000506172.1:n.*1198T>C
ENST00000680000.1:c.4850T>C ENSP00000506173.1:p.Leu1617Ser
ENST00000680135.1:c.*2811T>C ENSP00000506211.1:n.*2811T>C
ENST00000680149.1:c.*132T>C ENSP00000506497.1:n.*132T>C
ENST00000680163.1:c.4850T>C ENSP00000505092.1:p.Leu1617Ser
ENST00000680174.1:n.5541T>C
ENST00000680236.1:c.*1911T>C ENSP00000506212.1:n.*1911T>C
ENST00000680404.1:n.365T>C
ENST00000680441.1:n.3408T>C
ENST00000680497.1:c.4952T>C ENSP00000505954.1:p.Leu1651Ser
ENST00000680508.1:c.*6T>C ENSP00000505749.1:n.*6T>C
ENST00000680569.1:c.*2793T>C ENSP00000505522.1:n.*2793T>C
ENST00000680634.1:n.1358T>C
ENST00000680722.1:n.2650T>C
ENST00000680726.1:c.*132T>C ENSP00000505505.1:n.*132T>C
ENST00000680759.1:c.4682T>C ENSP00000505848.1:p.Leu1561Ser
ENST00000680814.1:c.4838+247T>C ENSP00000505710.1:n.4838+247T>C
ENST00000680828.1:c.*2544T>C ENSP00000505249.1:n.*2544T>C
ENST00000680861.1:c.4850T>C ENSP00000505043.1:p.Leu1617Ser
ENST00000680927.1:c.*1030T>C ENSP00000505473.1:n.*1030T>C
ENST00000680939.1:n.6791T>C
ENST00000681250.1:c.*1567T>C ENSP00000505684.1:n.*1567T>C
ENST00000681256.1:c.*2865T>C ENSP00000505446.1:n.*2865T>C
ENST00000681279.1:n.5716T>C
ENST00000681307.1:n.5963T>C
ENST00000681461.1:n.5618T>C
ENST00000681495.1:c.2387T>C ENSP00000506085.1:p.Leu796Ser
ENST00000681558.1:c.2528T>C ENSP00000505568.1:p.Leu843Ser
ENST00000681619.1:c.4847T>C ENSP00000505071.1:p.Leu1616Ser
ENST00000681663.1:n.1756T>C
ENST00000681692.1:n.2810T>C
ENST00000681716.1:c.*2704T>C ENSP00000505078.1:n.*2704T>C
ENST00000681768.1:c.*2514T>C ENSP00000506311.1:n.*2514T>C
ENST00000681808.1:c.4673T>C ENSP00000505219.1:p.Leu1558Ser
ENST00000264276.10:c.4850T>C ENSP00000264276.6:p.Leu1617Ser
ENST00000439495.5:c.2954T>C
NM_020919.3:c.4850T>C NP_065970.2:p.Leu1617Ser
XM_005246709.2:c.4847T>C XP_005246766.1:p.Leu1616Ser
XM_006712654.1:c.4850T>C XP_006712717.1:p.Leu1617Ser
XM_006712655.2:c.2786T>C XP_006712718.1:p.Leu929Ser
XM_011511530.1:c.4511T>C XP_011509832.1:p.Leu1504Ser
XR_922974.1:n.5128T>C
XM_006712654.3:c.4850T>C XP_006712717.1:p.Leu1617Ser
XM_006712655.3:c.2786T>C XP_006712718.1:p.Leu929Ser
XM_017004569.2:c.4847T>C XP_016860058.1:p.Leu1616Ser
XM_017004572.2:c.2468T>C XP_016860061.1:p.Leu823Ser
XM_024453024.1:c.4511T>C XP_024308792.1:p.Leu1504Ser
XM_024453025.1:c.2783T>C XP_024308793.1:p.Leu928Ser
XR_001738864.2:n.4965T>C
XR_001738865.2:n.4962T>C
XR_001738866.2:n.5128T>C
XR_001738867.2:n.5125T>C
XR_002959320.1:n.4021T>C
NM_020919.4:c.4850T>C MANE Select NP_065970.2:p.Leu1617Ser