Canonical Allele Identifier: CA430667138

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568920C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704197C>T , CM000664.2:g.201704197C>T	GRCh38
NC_000002.11:g.202568920C>T , CM000664.1:g.202568920C>T	GRCh37
NC_000002.10:g.202277165C>T	NCBI36
NG_008775.1:g.81976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4860G>A MANE Select	ENSP00000264276.6:p.Glu1620=
ENST00000439495.6:c.*1040G>A	ENSP00000403832.2:n.*1040G>A
ENST00000679409.1:c.*1565G>A	ENSP00000506531.1:n.*1565G>A
ENST00000679416.1:n.6364G>A
ENST00000679427.1:n.2531G>A
ENST00000679435.1:c.4860G>A	ENSP00000505218.1:p.Glu1620=
ENST00000679516.1:c.4860G>A	ENSP00000505187.1:p.Glu1620=
ENST00000679618.1:c.*1948G>A	ENSP00000506274.1:n.*1948G>A
ENST00000679630.1:n.6709G>A
ENST00000679635.1:n.3122G>A
ENST00000679686.1:n.4974G>A
ENST00000679701.1:n.7852G>A
ENST00000679916.1:c.*1208G>A	ENSP00000506172.1:n.*1208G>A
ENST00000680000.1:c.4860G>A	ENSP00000506173.1:p.Glu1620=
ENST00000680135.1:c.*2821G>A	ENSP00000506211.1:n.*2821G>A
ENST00000680149.1:c.*142G>A	ENSP00000506497.1:n.*142G>A
ENST00000680163.1:c.4860G>A	ENSP00000505092.1:p.Glu1620=
ENST00000680174.1:n.5551G>A
ENST00000680236.1:c.*1921G>A	ENSP00000506212.1:n.*1921G>A
ENST00000680404.1:n.375G>A
ENST00000680441.1:n.3418G>A
ENST00000680497.1:c.4962G>A	ENSP00000505954.1:p.Glu1654=
ENST00000680508.1:c.*16G>A	ENSP00000505749.1:n.*16G>A
ENST00000680569.1:c.*2803G>A	ENSP00000505522.1:n.*2803G>A
ENST00000680634.1:n.1368G>A
ENST00000680722.1:n.2660G>A
ENST00000680726.1:c.*142G>A	ENSP00000505505.1:n.*142G>A
ENST00000680759.1:c.4692G>A	ENSP00000505848.1:p.Glu1564=
ENST00000680814.1:c.4838+257G>A	ENSP00000505710.1:n.4838+257G>A
ENST00000680828.1:c.*2554G>A	ENSP00000505249.1:n.*2554G>A
ENST00000680861.1:c.4860G>A	ENSP00000505043.1:p.Glu1620=
ENST00000680927.1:c.*1040G>A	ENSP00000505473.1:n.*1040G>A
ENST00000680939.1:n.6801G>A
ENST00000681250.1:c.*1577G>A	ENSP00000505684.1:n.*1577G>A
ENST00000681256.1:c.*2875G>A	ENSP00000505446.1:n.*2875G>A
ENST00000681279.1:n.5726G>A
ENST00000681307.1:n.5973G>A
ENST00000681461.1:n.5628G>A
ENST00000681495.1:c.2397G>A	ENSP00000506085.1:p.Glu799=
ENST00000681558.1:c.2538G>A	ENSP00000505568.1:p.Glu846=
ENST00000681619.1:c.4857G>A	ENSP00000505071.1:p.Glu1619=
ENST00000681663.1:n.1766G>A
ENST00000681692.1:n.2820G>A
ENST00000681716.1:c.*2714G>A	ENSP00000505078.1:n.*2714G>A
ENST00000681768.1:c.*2524G>A	ENSP00000506311.1:n.*2524G>A
ENST00000681808.1:c.4683G>A	ENSP00000505219.1:p.Glu1561=
ENST00000264276.10:c.4860G>A	ENSP00000264276.6:p.Glu1620=
ENST00000439495.5:c.2964G>A
NM_020919.3:c.4860G>A	NP_065970.2:p.Glu1620=
XM_005246709.2:c.4857G>A	XP_005246766.1:p.Glu1619=
XM_006712654.1:c.4860G>A	XP_006712717.1:p.Glu1620=
XM_006712655.2:c.2796G>A	XP_006712718.1:p.Glu932=
XM_011511530.1:c.4521G>A	XP_011509832.1:p.Glu1507=
XR_922974.1:n.5138G>A
XM_006712654.3:c.4860G>A	XP_006712717.1:p.Glu1620=
XM_006712655.3:c.2796G>A	XP_006712718.1:p.Glu932=
XM_017004569.2:c.4857G>A	XP_016860058.1:p.Glu1619=
XM_017004572.2:c.2478G>A	XP_016860061.1:p.Glu826=
XM_024453024.1:c.4521G>A	XP_024308792.1:p.Glu1507=
XM_024453025.1:c.2793G>A	XP_024308793.1:p.Glu931=
XR_001738864.2:n.4975G>A
XR_001738865.2:n.4972G>A
XR_001738866.2:n.5138G>A
XR_001738867.2:n.5135G>A
XR_002959320.1:n.4031G>A
NM_020919.4:c.4860G>A MANE Select	NP_065970.2:p.Glu1620=