Canonical Allele Identifier: CA350320264

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568872T>A (hg19) ; chr2:g.201704149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704149T>A , CM000664.2:g.201704149T>A	GRCh38
NC_000002.11:g.202568872T>A , CM000664.1:g.202568872T>A	GRCh37
NC_000002.10:g.202277117T>A	NCBI36
NG_008775.1:g.82024A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4908A>T MANE Select	ENSP00000264276.6:p.Glu1636Asp
ENST00000439495.6:c.*1088A>T	ENSP00000403832.2:n.*1088A>T
ENST00000679409.1:c.*1613A>T	ENSP00000506531.1:n.*1613A>T
ENST00000679416.1:n.6412A>T
ENST00000679427.1:n.2579A>T
ENST00000679435.1:c.4908A>T	ENSP00000505218.1:p.Glu1636Asp
ENST00000679516.1:c.4908A>T	ENSP00000505187.1:p.Glu1636Asp
ENST00000679618.1:c.*1996A>T	ENSP00000506274.1:n.*1996A>T
ENST00000679630.1:n.6757A>T
ENST00000679635.1:n.3170A>T
ENST00000679686.1:n.5022A>T
ENST00000679701.1:n.7900A>T
ENST00000679916.1:c.*1256A>T	ENSP00000506172.1:n.*1256A>T
ENST00000680000.1:c.4908A>T	ENSP00000506173.1:p.Glu1636Asp
ENST00000680135.1:c.*2869A>T	ENSP00000506211.1:n.*2869A>T
ENST00000680149.1:c.*190A>T	ENSP00000506497.1:n.*190A>T
ENST00000680163.1:c.4908A>T	ENSP00000505092.1:p.Glu1636Asp
ENST00000680174.1:n.5599A>T
ENST00000680236.1:c.*1969A>T	ENSP00000506212.1:n.*1969A>T
ENST00000680404.1:n.423A>T
ENST00000680441.1:n.3466A>T
ENST00000680497.1:c.5010A>T	ENSP00000505954.1:p.Glu1670Asp
ENST00000680508.1:c.*64A>T	ENSP00000505749.1:n.*64A>T
ENST00000680569.1:c.*2851A>T	ENSP00000505522.1:n.*2851A>T
ENST00000680634.1:n.1416A>T
ENST00000680722.1:n.2708A>T
ENST00000680726.1:c.*190A>T	ENSP00000505505.1:n.*190A>T
ENST00000680759.1:c.4740A>T	ENSP00000505848.1:p.Glu1580Asp
ENST00000680814.1:c.4838+305A>T	ENSP00000505710.1:n.4838+305A>T
ENST00000680828.1:c.*2602A>T	ENSP00000505249.1:n.*2602A>T
ENST00000680861.1:c.4908A>T	ENSP00000505043.1:p.Glu1636Asp
ENST00000680927.1:c.*1088A>T	ENSP00000505473.1:n.*1088A>T
ENST00000680939.1:n.6849A>T
ENST00000681250.1:c.*1625A>T	ENSP00000505684.1:n.*1625A>T
ENST00000681256.1:c.*2923A>T	ENSP00000505446.1:n.*2923A>T
ENST00000681279.1:n.5774A>T
ENST00000681307.1:n.6021A>T
ENST00000681461.1:n.5676A>T
ENST00000681495.1:c.2445A>T	ENSP00000506085.1:p.Glu815Asp
ENST00000681558.1:c.2586A>T	ENSP00000505568.1:p.Glu862Asp
ENST00000681619.1:c.4905A>T	ENSP00000505071.1:p.Glu1635Asp
ENST00000681663.1:n.1814A>T
ENST00000681692.1:n.2868A>T
ENST00000681716.1:c.*2762A>T	ENSP00000505078.1:n.*2762A>T
ENST00000681768.1:c.*2572A>T	ENSP00000506311.1:n.*2572A>T
ENST00000681808.1:c.4731A>T	ENSP00000505219.1:p.Glu1577Asp
ENST00000264276.10:c.4908A>T	ENSP00000264276.6:p.Glu1636Asp
ENST00000439495.5:c.3012A>T
NM_020919.3:c.4908A>T	NP_065970.2:p.Glu1636Asp
XM_005246709.2:c.4905A>T	XP_005246766.1:p.Glu1635Asp
XM_006712654.1:c.4908A>T	XP_006712717.1:p.Glu1636Asp
XM_006712655.2:c.2844A>T	XP_006712718.1:p.Glu948Asp
XM_011511530.1:c.4569A>T	XP_011509832.1:p.Glu1523Asp
XR_922974.1:n.5186A>T
XM_006712654.3:c.4908A>T	XP_006712717.1:p.Glu1636Asp
XM_006712655.3:c.2844A>T	XP_006712718.1:p.Glu948Asp
XM_017004569.2:c.4905A>T	XP_016860058.1:p.Glu1635Asp
XM_017004572.2:c.2526A>T	XP_016860061.1:p.Glu842Asp
XM_024453024.1:c.4569A>T	XP_024308792.1:p.Glu1523Asp
XM_024453025.1:c.2841A>T	XP_024308793.1:p.Glu947Asp
XR_001738864.2:n.5023A>T
XR_001738865.2:n.5020A>T
XR_001738866.2:n.5186A>T
XR_001738867.2:n.5183A>T
XR_002959320.1:n.4079A>T
NM_020919.4:c.4908A>T MANE Select	NP_065970.2:p.Glu1636Asp