Canonical Allele Identifier: CA350320446

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568921T>A (hg19) ; chr2:g.201704198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704198T>A , CM000664.2:g.201704198T>A	GRCh38
NC_000002.11:g.202568921T>A , CM000664.1:g.202568921T>A	GRCh37
NC_000002.10:g.202277166T>A	NCBI36
NG_008775.1:g.81975A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4859A>T MANE Select	ENSP00000264276.6:p.Glu1620Val
ENST00000439495.6:c.*1039A>T	ENSP00000403832.2:n.*1039A>T
ENST00000679409.1:c.*1564A>T	ENSP00000506531.1:n.*1564A>T
ENST00000679416.1:n.6363A>T
ENST00000679427.1:n.2530A>T
ENST00000679435.1:c.4859A>T	ENSP00000505218.1:p.Glu1620Val
ENST00000679516.1:c.4859A>T	ENSP00000505187.1:p.Glu1620Val
ENST00000679618.1:c.*1947A>T	ENSP00000506274.1:n.*1947A>T
ENST00000679630.1:n.6708A>T
ENST00000679635.1:n.3121A>T
ENST00000679686.1:n.4973A>T
ENST00000679701.1:n.7851A>T
ENST00000679916.1:c.*1207A>T	ENSP00000506172.1:n.*1207A>T
ENST00000680000.1:c.4859A>T	ENSP00000506173.1:p.Glu1620Val
ENST00000680135.1:c.*2820A>T	ENSP00000506211.1:n.*2820A>T
ENST00000680149.1:c.*141A>T	ENSP00000506497.1:n.*141A>T
ENST00000680163.1:c.4859A>T	ENSP00000505092.1:p.Glu1620Val
ENST00000680174.1:n.5550A>T
ENST00000680236.1:c.*1920A>T	ENSP00000506212.1:n.*1920A>T
ENST00000680404.1:n.374A>T
ENST00000680441.1:n.3417A>T
ENST00000680497.1:c.4961A>T	ENSP00000505954.1:p.Glu1654Val
ENST00000680508.1:c.*15A>T	ENSP00000505749.1:n.*15A>T
ENST00000680569.1:c.*2802A>T	ENSP00000505522.1:n.*2802A>T
ENST00000680634.1:n.1367A>T
ENST00000680722.1:n.2659A>T
ENST00000680726.1:c.*141A>T	ENSP00000505505.1:n.*141A>T
ENST00000680759.1:c.4691A>T	ENSP00000505848.1:p.Glu1564Val
ENST00000680814.1:c.4838+256A>T	ENSP00000505710.1:n.4838+256A>T
ENST00000680828.1:c.*2553A>T	ENSP00000505249.1:n.*2553A>T
ENST00000680861.1:c.4859A>T	ENSP00000505043.1:p.Glu1620Val
ENST00000680927.1:c.*1039A>T	ENSP00000505473.1:n.*1039A>T
ENST00000680939.1:n.6800A>T
ENST00000681250.1:c.*1576A>T	ENSP00000505684.1:n.*1576A>T
ENST00000681256.1:c.*2874A>T	ENSP00000505446.1:n.*2874A>T
ENST00000681279.1:n.5725A>T
ENST00000681307.1:n.5972A>T
ENST00000681461.1:n.5627A>T
ENST00000681495.1:c.2396A>T	ENSP00000506085.1:p.Glu799Val
ENST00000681558.1:c.2537A>T	ENSP00000505568.1:p.Glu846Val
ENST00000681619.1:c.4856A>T	ENSP00000505071.1:p.Glu1619Val
ENST00000681663.1:n.1765A>T
ENST00000681692.1:n.2819A>T
ENST00000681716.1:c.*2713A>T	ENSP00000505078.1:n.*2713A>T
ENST00000681768.1:c.*2523A>T	ENSP00000506311.1:n.*2523A>T
ENST00000681808.1:c.4682A>T	ENSP00000505219.1:p.Glu1561Val
ENST00000264276.10:c.4859A>T	ENSP00000264276.6:p.Glu1620Val
ENST00000439495.5:c.2963A>T
NM_020919.3:c.4859A>T	NP_065970.2:p.Glu1620Val
XM_005246709.2:c.4856A>T	XP_005246766.1:p.Glu1619Val
XM_006712654.1:c.4859A>T	XP_006712717.1:p.Glu1620Val
XM_006712655.2:c.2795A>T	XP_006712718.1:p.Glu932Val
XM_011511530.1:c.4520A>T	XP_011509832.1:p.Glu1507Val
XR_922974.1:n.5137A>T
XM_006712654.3:c.4859A>T	XP_006712717.1:p.Glu1620Val
XM_006712655.3:c.2795A>T	XP_006712718.1:p.Glu932Val
XM_017004569.2:c.4856A>T	XP_016860058.1:p.Glu1619Val
XM_017004572.2:c.2477A>T	XP_016860061.1:p.Glu826Val
XM_024453024.1:c.4520A>T	XP_024308792.1:p.Glu1507Val
XM_024453025.1:c.2792A>T	XP_024308793.1:p.Glu931Val
XR_001738864.2:n.4974A>T
XR_001738865.2:n.4971A>T
XR_001738866.2:n.5137A>T
XR_001738867.2:n.5134A>T
XR_002959320.1:n.4030A>T
NM_020919.4:c.4859A>T MANE Select	NP_065970.2:p.Glu1620Val