Canonical Allele Identifier: CA350320451

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568922C>A (hg19) ; chr2:g.201704199C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704199C>A , CM000664.2:g.201704199C>A	GRCh38
NC_000002.11:g.202568922C>A , CM000664.1:g.202568922C>A	GRCh37
NC_000002.10:g.202277167C>A	NCBI36
NG_008775.1:g.81974G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4858G>T MANE Select	ENSP00000264276.6:p.Glu1620Ter
ENST00000439495.6:c.*1038G>T	ENSP00000403832.2:n.*1038G>T
ENST00000679409.1:c.*1563G>T	ENSP00000506531.1:n.*1563G>T
ENST00000679416.1:n.6362G>T
ENST00000679427.1:n.2529G>T
ENST00000679435.1:c.4858G>T	ENSP00000505218.1:p.Glu1620Ter
ENST00000679516.1:c.4858G>T	ENSP00000505187.1:p.Glu1620Ter
ENST00000679618.1:c.*1946G>T	ENSP00000506274.1:n.*1946G>T
ENST00000679630.1:n.6707G>T
ENST00000679635.1:n.3120G>T
ENST00000679686.1:n.4972G>T
ENST00000679701.1:n.7850G>T
ENST00000679916.1:c.*1206G>T	ENSP00000506172.1:n.*1206G>T
ENST00000680000.1:c.4858G>T	ENSP00000506173.1:p.Glu1620Ter
ENST00000680135.1:c.*2819G>T	ENSP00000506211.1:n.*2819G>T
ENST00000680149.1:c.*140G>T	ENSP00000506497.1:n.*140G>T
ENST00000680163.1:c.4858G>T	ENSP00000505092.1:p.Glu1620Ter
ENST00000680174.1:n.5549G>T
ENST00000680236.1:c.*1919G>T	ENSP00000506212.1:n.*1919G>T
ENST00000680404.1:n.373G>T
ENST00000680441.1:n.3416G>T
ENST00000680497.1:c.4960G>T	ENSP00000505954.1:p.Glu1654Ter
ENST00000680508.1:c.*14G>T	ENSP00000505749.1:n.*14G>T
ENST00000680569.1:c.*2801G>T	ENSP00000505522.1:n.*2801G>T
ENST00000680634.1:n.1366G>T
ENST00000680722.1:n.2658G>T
ENST00000680726.1:c.*140G>T	ENSP00000505505.1:n.*140G>T
ENST00000680759.1:c.4690G>T	ENSP00000505848.1:p.Glu1564Ter
ENST00000680814.1:c.4838+255G>T	ENSP00000505710.1:n.4838+255G>T
ENST00000680828.1:c.*2552G>T	ENSP00000505249.1:n.*2552G>T
ENST00000680861.1:c.4858G>T	ENSP00000505043.1:p.Glu1620Ter
ENST00000680927.1:c.*1038G>T	ENSP00000505473.1:n.*1038G>T
ENST00000680939.1:n.6799G>T
ENST00000681250.1:c.*1575G>T	ENSP00000505684.1:n.*1575G>T
ENST00000681256.1:c.*2873G>T	ENSP00000505446.1:n.*2873G>T
ENST00000681279.1:n.5724G>T
ENST00000681307.1:n.5971G>T
ENST00000681461.1:n.5626G>T
ENST00000681495.1:c.2395G>T	ENSP00000506085.1:p.Glu799Ter
ENST00000681558.1:c.2536G>T	ENSP00000505568.1:p.Glu846Ter
ENST00000681619.1:c.4855G>T	ENSP00000505071.1:p.Glu1619Ter
ENST00000681663.1:n.1764G>T
ENST00000681692.1:n.2818G>T
ENST00000681716.1:c.*2712G>T	ENSP00000505078.1:n.*2712G>T
ENST00000681768.1:c.*2522G>T	ENSP00000506311.1:n.*2522G>T
ENST00000681808.1:c.4681G>T	ENSP00000505219.1:p.Glu1561Ter
ENST00000264276.10:c.4858G>T	ENSP00000264276.6:p.Glu1620Ter
ENST00000439495.5:c.2962G>T
NM_020919.3:c.4858G>T	NP_065970.2:p.Glu1620Ter
XM_005246709.2:c.4855G>T	XP_005246766.1:p.Glu1619Ter
XM_006712654.1:c.4858G>T	XP_006712717.1:p.Glu1620Ter
XM_006712655.2:c.2794G>T	XP_006712718.1:p.Glu932Ter
XM_011511530.1:c.4519G>T	XP_011509832.1:p.Glu1507Ter
XR_922974.1:n.5136G>T
XM_006712654.3:c.4858G>T	XP_006712717.1:p.Glu1620Ter
XM_006712655.3:c.2794G>T	XP_006712718.1:p.Glu932Ter
XM_017004569.2:c.4855G>T	XP_016860058.1:p.Glu1619Ter
XM_017004572.2:c.2476G>T	XP_016860061.1:p.Glu826Ter
XM_024453024.1:c.4519G>T	XP_024308792.1:p.Glu1507Ter
XM_024453025.1:c.2791G>T	XP_024308793.1:p.Glu931Ter
XR_001738864.2:n.4973G>T
XR_001738865.2:n.4970G>T
XR_001738866.2:n.5136G>T
XR_001738867.2:n.5133G>T
XR_002959320.1:n.4029G>T
NM_020919.4:c.4858G>T MANE Select	NP_065970.2:p.Glu1620Ter