Canonical Allele Identifier: CA2057627

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201709866G>A , CM000664.2:g.201709866G>A	GRCh38
NC_000002.11:g.202574589G>A , CM000664.1:g.202574589G>A	GRCh37
NC_000002.10:g.202282834G>A	NCBI36
NG_008775.1:g.76307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4280+15C>T MANE Select	ENSP00000264276.6:n.4280+15C>T
ENST00000439495.6:c.*460+15C>T	ENSP00000403832.2:n.*460+15C>T
ENST00000679409.1:c.*750+15C>T	ENSP00000506531.1:n.*750+15C>T
ENST00000679416.1:n.5784+15C>T
ENST00000679427.1:n.1716+15C>T
ENST00000679435.1:c.4280+15C>T	ENSP00000505218.1:n.4280+15C>T
ENST00000679516.1:c.4280+15C>T	ENSP00000505187.1:n.4280+15C>T
ENST00000679618.1:c.*1368+15C>T	ENSP00000506274.1:n.*1368+15C>T
ENST00000679630.1:n.6129+15C>T
ENST00000679635.1:n.2307+15C>T
ENST00000679686.1:n.4394+15C>T
ENST00000679701.1:n.7272+15C>T
ENST00000679916.1:c.*628+15C>T	ENSP00000506172.1:n.*628+15C>T
ENST00000680000.1:c.4280+15C>T	ENSP00000506173.1:n.4280+15C>T
ENST00000680135.1:c.*2241+15C>T	ENSP00000506211.1:n.*2241+15C>T
ENST00000680149.1:c.4277+15C>T	ENSP00000506497.1:n.4277+15C>T
ENST00000680163.1:c.4280+15C>T	ENSP00000505092.1:n.4280+15C>T
ENST00000680174.1:n.4971+15C>T
ENST00000680236.1:c.*1341+15C>T	ENSP00000506212.1:n.*1341+15C>T
ENST00000680441.1:n.2838+15C>T
ENST00000680497.1:c.4382+15C>T	ENSP00000505954.1:n.4382+15C>T
ENST00000680508.1:c.4277+15C>T	ENSP00000505749.1:n.4277+15C>T
ENST00000680569.1:c.*1988+15C>T	ENSP00000505522.1:n.*1988+15C>T
ENST00000680634.1:n.788+15C>T
ENST00000680722.1:n.2080+15C>T
ENST00000680726.1:c.4280+15C>T	ENSP00000505505.1:n.4280+15C>T
ENST00000680759.1:c.4112+15C>T	ENSP00000505848.1:n.4112+15C>T
ENST00000680814.1:c.4280+15C>T	ENSP00000505710.1:n.4280+15C>T
ENST00000680828.1:c.*1974+15C>T	ENSP00000505249.1:n.*1974+15C>T
ENST00000680861.1:c.4280+15C>T	ENSP00000505043.1:n.4280+15C>T
ENST00000680927.1:c.*460+15C>T	ENSP00000505473.1:n.*460+15C>T
ENST00000680939.1:n.4622+15C>T
ENST00000681250.1:c.*997+15C>T	ENSP00000505684.1:n.*997+15C>T
ENST00000681256.1:c.*2295+15C>T	ENSP00000505446.1:n.*2295+15C>T
ENST00000681279.1:n.5146+15C>T
ENST00000681307.1:n.5393+15C>T
ENST00000681461.1:n.5048+15C>T
ENST00000681495.1:c.1817+15C>T	ENSP00000506085.1:n.1817+15C>T
ENST00000681558.1:c.1958+15C>T	ENSP00000505568.1:n.1958+15C>T
ENST00000681619.1:c.4277+15C>T	ENSP00000505071.1:n.4277+15C>T
ENST00000681663.1:n.1186+15C>T
ENST00000681692.1:n.2240+15C>T
ENST00000681716.1:c.*2134+15C>T	ENSP00000505078.1:n.*2134+15C>T
ENST00000681768.1:c.*1944+15C>T	ENSP00000506311.1:n.*1944+15C>T
ENST00000681808.1:c.4280+15C>T	ENSP00000505219.1:n.4280+15C>T
ENST00000264276.10:c.4280+15C>T	ENSP00000264276.6:n.4280+15C>T
ENST00000439495.5:c.2384+15C>T
NM_020919.3:c.4280+15C>T	NP_065970.2:n.4280+15C>T
XM_005246709.2:c.4277+15C>T	XP_005246766.1:n.4277+15C>T
XM_006712654.1:c.4280+15C>T	XP_006712717.1:n.4280+15C>T
XM_006712655.2:c.2216+15C>T	XP_006712718.1:n.2216+15C>T
XM_011511530.1:c.3941+15C>T	XP_011509832.1:n.3941+15C>T
XR_922974.1:n.4558+15C>T
XM_006712654.3:c.4280+15C>T	XP_006712717.1:n.4280+15C>T
XM_006712655.3:c.2216+15C>T	XP_006712718.1:n.2216+15C>T
XM_017004569.2:c.4277+15C>T	XP_016860058.1:n.4277+15C>T
XM_017004572.2:c.1898+15C>T	XP_016860061.1:n.1898+15C>T
XM_024453024.1:c.3941+15C>T	XP_024308792.1:n.3941+15C>T
XM_024453025.1:c.2213+15C>T	XP_024308793.1:n.2213+15C>T
XR_001738864.2:n.4415+15C>T
XR_001738865.2:n.4412+15C>T
XR_001738866.2:n.4558+15C>T
XR_001738867.2:n.4555+15C>T
XR_002959320.1:n.3471+15C>T
NM_020919.4:c.4280+15C>T MANE Select	NP_065970.2:n.4280+15C>T