Canonical Allele Identifier: CA350320289

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568877C>A (hg19) ; chr2:g.201704154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704154C>A , CM000664.2:g.201704154C>A	GRCh38
NC_000002.11:g.202568877C>A , CM000664.1:g.202568877C>A	GRCh37
NC_000002.10:g.202277122C>A	NCBI36
NG_008775.1:g.82019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4903G>T MANE Select	ENSP00000264276.6:p.Gly1635Trp
ENST00000439495.6:c.*1083G>T	ENSP00000403832.2:n.*1083G>T
ENST00000679409.1:c.*1608G>T	ENSP00000506531.1:n.*1608G>T
ENST00000679416.1:n.6407G>T
ENST00000679427.1:n.2574G>T
ENST00000679435.1:c.4903G>T	ENSP00000505218.1:p.Gly1635Trp
ENST00000679516.1:c.4903G>T	ENSP00000505187.1:p.Gly1635Trp
ENST00000679618.1:c.*1991G>T	ENSP00000506274.1:n.*1991G>T
ENST00000679630.1:n.6752G>T
ENST00000679635.1:n.3165G>T
ENST00000679686.1:n.5017G>T
ENST00000679701.1:n.7895G>T
ENST00000679916.1:c.*1251G>T	ENSP00000506172.1:n.*1251G>T
ENST00000680000.1:c.4903G>T	ENSP00000506173.1:p.Gly1635Trp
ENST00000680135.1:c.*2864G>T	ENSP00000506211.1:n.*2864G>T
ENST00000680149.1:c.*185G>T	ENSP00000506497.1:n.*185G>T
ENST00000680163.1:c.4903G>T	ENSP00000505092.1:p.Gly1635Trp
ENST00000680174.1:n.5594G>T
ENST00000680236.1:c.*1964G>T	ENSP00000506212.1:n.*1964G>T
ENST00000680404.1:n.418G>T
ENST00000680441.1:n.3461G>T
ENST00000680497.1:c.5005G>T	ENSP00000505954.1:p.Gly1669Trp
ENST00000680508.1:c.*59G>T	ENSP00000505749.1:n.*59G>T
ENST00000680569.1:c.*2846G>T	ENSP00000505522.1:n.*2846G>T
ENST00000680634.1:n.1411G>T
ENST00000680722.1:n.2703G>T
ENST00000680726.1:c.*185G>T	ENSP00000505505.1:n.*185G>T
ENST00000680759.1:c.4735G>T	ENSP00000505848.1:p.Gly1579Trp
ENST00000680814.1:c.4838+300G>T	ENSP00000505710.1:n.4838+300G>T
ENST00000680828.1:c.*2597G>T	ENSP00000505249.1:n.*2597G>T
ENST00000680861.1:c.4903G>T	ENSP00000505043.1:p.Gly1635Trp
ENST00000680927.1:c.*1083G>T	ENSP00000505473.1:n.*1083G>T
ENST00000680939.1:n.6844G>T
ENST00000681250.1:c.*1620G>T	ENSP00000505684.1:n.*1620G>T
ENST00000681256.1:c.*2918G>T	ENSP00000505446.1:n.*2918G>T
ENST00000681279.1:n.5769G>T
ENST00000681307.1:n.6016G>T
ENST00000681461.1:n.5671G>T
ENST00000681495.1:c.2440G>T	ENSP00000506085.1:p.Gly814Trp
ENST00000681558.1:c.2581G>T	ENSP00000505568.1:p.Gly861Trp
ENST00000681619.1:c.4900G>T	ENSP00000505071.1:p.Gly1634Trp
ENST00000681663.1:n.1809G>T
ENST00000681692.1:n.2863G>T
ENST00000681716.1:c.*2757G>T	ENSP00000505078.1:n.*2757G>T
ENST00000681768.1:c.*2567G>T	ENSP00000506311.1:n.*2567G>T
ENST00000681808.1:c.4726G>T	ENSP00000505219.1:p.Gly1576Trp
ENST00000264276.10:c.4903G>T	ENSP00000264276.6:p.Gly1635Trp
ENST00000439495.5:c.3007G>T
NM_020919.3:c.4903G>T	NP_065970.2:p.Gly1635Trp
XM_005246709.2:c.4900G>T	XP_005246766.1:p.Gly1634Trp
XM_006712654.1:c.4903G>T	XP_006712717.1:p.Gly1635Trp
XM_006712655.2:c.2839G>T	XP_006712718.1:p.Gly947Trp
XM_011511530.1:c.4564G>T	XP_011509832.1:p.Gly1522Trp
XR_922974.1:n.5181G>T
XM_006712654.3:c.4903G>T	XP_006712717.1:p.Gly1635Trp
XM_006712655.3:c.2839G>T	XP_006712718.1:p.Gly947Trp
XM_017004569.2:c.4900G>T	XP_016860058.1:p.Gly1634Trp
XM_017004572.2:c.2521G>T	XP_016860061.1:p.Gly841Trp
XM_024453024.1:c.4564G>T	XP_024308792.1:p.Gly1522Trp
XM_024453025.1:c.2836G>T	XP_024308793.1:p.Gly946Trp
XR_001738864.2:n.5018G>T
XR_001738865.2:n.5015G>T
XR_001738866.2:n.5181G>T
XR_001738867.2:n.5178G>T
XR_002959320.1:n.4074G>T
NM_020919.4:c.4903G>T MANE Select	NP_065970.2:p.Gly1635Trp