Canonical Allele Identifier: CA11170122

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201711242C>A , CM000664.2:g.201711242C>A	GRCh38
NC_000002.11:g.202575965C>A , CM000664.1:g.202575965C>A	GRCh37
NC_000002.10:g.202284210C>A	NCBI36
NG_008775.1:g.74931G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020919.4:c.4005-134G>T MANE Select	NP_065970.2:n.4005-134G>T
ENST00000264276.11:c.4005-134G>T MANE Select	ENSP00000264276.6:n.4005-134G>T
NM_020919.3:c.4005-134G>T	NP_065970.2:n.4005-134G>T
ENST00000264276.10:c.4005-134G>T	ENSP00000264276.6:n.4005-134G>T
ENST00000439495.5:c.2109-134G>T
ENST00000439495.6:c.*185-134G>T	ENSP00000403832.2:n.*185-134G>T
ENST00000679409.1:c.*475-134G>T	ENSP00000506531.1:n.*475-134G>T
ENST00000679416.1:n.5509-134G>T
ENST00000679427.1:n.1307G>T
ENST00000679435.1:c.4005-134G>T	ENSP00000505218.1:n.4005-134G>T
ENST00000679516.1:c.4005-134G>T	ENSP00000505187.1:n.4005-134G>T
ENST00000679618.1:c.*1093-134G>T	ENSP00000506274.1:n.*1093-134G>T
ENST00000679630.1:n.5854-134G>T
ENST00000679635.1:n.1898G>T
ENST00000679686.1:n.4119-134G>T
ENST00000679701.1:n.6997-134G>T
ENST00000679916.1:c.*353-134G>T	ENSP00000506172.1:n.*353-134G>T
ENST00000680000.1:c.4005-134G>T	ENSP00000506173.1:n.4005-134G>T
ENST00000680135.1:c.*1966-134G>T	ENSP00000506211.1:n.*1966-134G>T
ENST00000680149.1:c.4002-134G>T	ENSP00000506497.1:n.4002-134G>T
ENST00000680163.1:c.4005-134G>T	ENSP00000505092.1:n.4005-134G>T
ENST00000680174.1:n.4696-134G>T
ENST00000680236.1:c.*1066-134G>T	ENSP00000506212.1:n.*1066-134G>T
ENST00000680441.1:n.2563-134G>T
ENST00000680497.1:c.4107-134G>T	ENSP00000505954.1:n.4107-134G>T
ENST00000680508.1:c.4002-134G>T	ENSP00000505749.1:n.4002-134G>T
ENST00000680569.1:c.*1713-134G>T	ENSP00000505522.1:n.*1713-134G>T
ENST00000680634.1:n.513-134G>T
ENST00000680722.1:n.1805-134G>T
ENST00000680726.1:c.4005-134G>T	ENSP00000505505.1:n.4005-134G>T
ENST00000680759.1:c.3837-134G>T	ENSP00000505848.1:n.3837-134G>T
ENST00000680814.1:c.4005-134G>T	ENSP00000505710.1:n.4005-134G>T
ENST00000680828.1:c.*1699-134G>T	ENSP00000505249.1:n.*1699-134G>T
ENST00000680861.1:c.4005-134G>T	ENSP00000505043.1:n.4005-134G>T
ENST00000680927.1:c.*185-134G>T	ENSP00000505473.1:n.*185-134G>T
ENST00000680939.1:n.4347-134G>T
ENST00000681250.1:c.*722-134G>T	ENSP00000505684.1:n.*722-134G>T
ENST00000681256.1:c.*2020-134G>T	ENSP00000505446.1:n.*2020-134G>T
ENST00000681279.1:n.4871-134G>T
ENST00000681307.1:n.5118-134G>T
ENST00000681461.1:n.4773-134G>T
ENST00000681495.1:c.1542-134G>T	ENSP00000506085.1:n.1542-134G>T
ENST00000681558.1:c.1683-134G>T	ENSP00000505568.1:n.1683-134G>T
ENST00000681619.1:c.4002-134G>T	ENSP00000505071.1:n.4002-134G>T
ENST00000681663.1:n.911-134G>T
ENST00000681692.1:n.1831G>T
ENST00000681716.1:c.*1859-134G>T	ENSP00000505078.1:n.*1859-134G>T
ENST00000681768.1:c.*1669-134G>T	ENSP00000506311.1:n.*1669-134G>T
ENST00000681808.1:c.4005-134G>T	ENSP00000505219.1:n.4005-134G>T
XM_005246709.2:c.4002-134G>T	XP_005246766.1:n.4002-134G>T
XM_006712654.1:c.4005-134G>T	XP_006712717.1:n.4005-134G>T
XM_006712654.3:c.4005-134G>T	XP_006712717.1:n.4005-134G>T
XM_006712655.2:c.1941-134G>T	XP_006712718.1:n.1941-134G>T
XM_006712655.3:c.1941-134G>T	XP_006712718.1:n.1941-134G>T
XM_011511530.1:c.3666-134G>T	XP_011509832.1:n.3666-134G>T
XM_017004569.2:c.4002-134G>T	XP_016860058.1:n.4002-134G>T
XM_017004572.2:c.1623-134G>T	XP_016860061.1:n.1623-134G>T
XM_024453024.1:c.3666-134G>T	XP_024308792.1:n.3666-134G>T
XM_024453025.1:c.1938-134G>T	XP_024308793.1:n.1938-134G>T
XR_001738864.2:n.4140-134G>T
XR_001738865.2:n.4137-134G>T
XR_001738866.2:n.4283-134G>T
XR_001738867.2:n.4280-134G>T
XR_002959320.1:n.3196-134G>T
XR_922974.1:n.4283-134G>T