Canonical Allele Identifier: CA430639128

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202587799T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723076T>C , CM000664.2:g.201723076T>C	GRCh38
NC_000002.11:g.202587799T>C , CM000664.1:g.202587799T>C	GRCh37
NC_000002.10:g.202296044T>C	NCBI36
NG_008775.1:g.63097A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3669A>G MANE Select	ENSP00000264276.6:p.Gly1223=
ENST00000439495.6:c.1347A>G	ENSP00000403832.2:p.Gly449=
ENST00000482891.6:n.4437A>G
ENST00000494017.6:n.1401A>G
ENST00000679409.1:c.1347A>G	ENSP00000506531.1:p.Gly449=
ENST00000679416.1:n.5173A>G
ENST00000679435.1:c.3669A>G	ENSP00000505218.1:p.Gly1223=
ENST00000679516.1:c.3669A>G	ENSP00000505187.1:p.Gly1223=
ENST00000679618.1:c.*757A>G	ENSP00000506274.1:n.*757A>G
ENST00000679630.1:n.5518A>G
ENST00000679686.1:n.3783A>G
ENST00000679701.1:n.6661A>G
ENST00000679916.1:c.3669A>G	ENSP00000506172.1:p.Gly1223=
ENST00000680000.1:c.3669A>G	ENSP00000506173.1:p.Gly1223=
ENST00000680135.1:c.*1633A>G	ENSP00000506211.1:n.*1633A>G
ENST00000680149.1:c.3669A>G	ENSP00000506497.1:p.Gly1223=
ENST00000680163.1:c.3669A>G	ENSP00000505092.1:p.Gly1223=
ENST00000680174.1:n.4360A>G
ENST00000680236.1:c.*730A>G	ENSP00000506212.1:n.*730A>G
ENST00000680497.1:c.3771A>G	ENSP00000505954.1:p.Gly1257=
ENST00000680508.1:c.3669A>G	ENSP00000505749.1:p.Gly1223=
ENST00000680569.1:c.*1380A>G	ENSP00000505522.1:n.*1380A>G
ENST00000680630.1:n.4101A>G
ENST00000680634.1:n.21-2587A>G
ENST00000680722.1:n.1469A>G
ENST00000680723.1:n.4452A>G
ENST00000680726.1:c.3669A>G	ENSP00000505505.1:p.Gly1223=
ENST00000680737.1:n.3940A>G
ENST00000680759.1:c.3669A>G	ENSP00000505848.1:p.Gly1223=
ENST00000680814.1:c.3669A>G	ENSP00000505710.1:p.Gly1223=
ENST00000680828.1:c.*1241A>G	ENSP00000505249.1:n.*1241A>G
ENST00000680861.1:c.3669A>G	ENSP00000505043.1:p.Gly1223=
ENST00000680927.1:c.3669A>G	ENSP00000505473.1:p.Gly1223=
ENST00000680939.1:n.4011A>G
ENST00000681152.1:c.3669A>G	ENSP00000505388.1:p.Gly1223=
ENST00000681250.1:c.*386A>G	ENSP00000505684.1:n.*386A>G
ENST00000681256.1:c.*1687A>G	ENSP00000505446.1:n.*1687A>G
ENST00000681279.1:n.4437A>G
ENST00000681303.1:c.3669A>G	ENSP00000505576.1:p.Gly1223=
ENST00000681307.1:n.4782A>G
ENST00000681461.1:n.4437A>G
ENST00000681495.1:c.1209A>G	ENSP00000506085.1:p.Gly403=
ENST00000681558.1:c.1347A>G	ENSP00000505568.1:p.Gly449=
ENST00000681619.1:c.3669A>G	ENSP00000505071.1:p.Gly1223=
ENST00000681716.1:c.*1380A>G	ENSP00000505078.1:n.*1380A>G
ENST00000681758.1:n.4011A>G
ENST00000681768.1:c.*1333A>G	ENSP00000506311.1:n.*1333A>G
ENST00000681808.1:c.3669A>G	ENSP00000505219.1:p.Gly1223=
ENST00000264276.10:c.3669A>G	ENSP00000264276.6:p.Gly1223=
ENST00000439495.5:c.1630A>G
ENST00000482891.5:n.3809A>G
ENST00000489440.5:n.490A>G
NM_020919.3:c.3669A>G	NP_065970.2:p.Gly1223=
XM_005246709.2:c.3669A>G	XP_005246766.1:p.Gly1223=
XM_006712654.1:c.3669A>G	XP_006712717.1:p.Gly1223=
XM_006712655.2:c.1605A>G	XP_006712718.1:p.Gly535=
XM_011511530.1:c.3330A>G	XP_011509832.1:p.Gly1110=
XM_011511531.1:c.3669A>G	XP_011509833.1:p.Gly1223=
XR_922974.1:n.3804A>G
XM_006712654.3:c.3669A>G	XP_006712717.1:p.Gly1223=
XM_006712655.3:c.1605A>G	XP_006712718.1:p.Gly535=
XM_017004569.2:c.3669A>G	XP_016860058.1:p.Gly1223=
XM_017004570.2:c.3669A>G	XP_016860059.1:p.Gly1223=
XM_017004572.2:c.1287A>G	XP_016860061.1:p.Gly429=
XM_024453024.1:c.3330A>G	XP_024308792.1:p.Gly1110=
XM_024453025.1:c.1605A>G	XP_024308793.1:p.Gly535=
XR_001738864.2:n.3804A>G
XR_001738865.2:n.3804A>G
XR_001738866.2:n.3804A>G
XR_001738867.2:n.3804A>G
XR_002959320.1:n.2860A>G
NM_020919.4:c.3669A>G MANE Select	NP_065970.2:p.Gly1223=