Canonical Allele Identifier: CA1321190479

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201744353A= , CM000664.2:g.201744353A=	GRCh38
NC_000002.11:g.202609076A= , CM000664.1:g.202609076A=	GRCh37
NC_000002.10:g.202317321A=	NCBI36
NG_008775.1:g.41820T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.2075T= MANE Select	ENSP00000264276.6:p.Ile692=
ENST00000482789.6:n.2417T=
ENST00000482891.6:n.2417T=
ENST00000679416.1:n.2417T=
ENST00000679435.1:c.2075T=	ENSP00000505218.1:p.Ile692=
ENST00000679516.1:c.2075T=	ENSP00000505187.1:p.Ile692=
ENST00000679549.1:n.1304T=
ENST00000679550.1:c.2075T=	ENSP00000506193.1:p.Ile692=
ENST00000679618.1:c.2075T=	ENSP00000506274.1:p.Ile692=
ENST00000679630.1:n.2417T=
ENST00000679686.1:n.2189T=
ENST00000679701.1:n.2417T=
ENST00000679916.1:c.2075T=	ENSP00000506172.1:p.Ile692=
ENST00000679939.1:c.2075T=	ENSP00000505704.1:p.Ile692=
ENST00000679949.1:c.2027T=	ENSP00000505232.1:p.Ile676=
ENST00000680000.1:c.2075T=	ENSP00000506173.1:p.Ile692=
ENST00000680135.1:c.*39T=	ENSP00000506211.1:n.*39T=
ENST00000680149.1:c.2075T=	ENSP00000506497.1:p.Ile692=
ENST00000680163.1:c.2075T=	ENSP00000505092.1:p.Ile692=
ENST00000680174.1:n.2355T=
ENST00000680236.1:c.2075T=	ENSP00000506212.1:p.Ile692=
ENST00000680287.1:c.2075T=	ENSP00000506547.1:p.Ile692=
ENST00000680497.1:c.2177T=	ENSP00000505954.1:p.Ile726=
ENST00000680508.1:c.2075T=	ENSP00000505749.1:p.Ile692=
ENST00000680569.1:c.2075T=	ENSP00000505522.1:p.Ile692=
ENST00000680630.1:n.2417T=
ENST00000680644.1:c.*586T=	ENSP00000505738.1:n.*586T=
ENST00000680726.1:c.2075T=	ENSP00000505505.1:p.Ile692=
ENST00000680737.1:n.2417T=
ENST00000680759.1:c.2075T=	ENSP00000505848.1:p.Ile692=
ENST00000680814.1:c.2075T=	ENSP00000505710.1:p.Ile692=
ENST00000680828.1:c.2075T=	ENSP00000505249.1:p.Ile692=
ENST00000680861.1:c.2075T=	ENSP00000505043.1:p.Ile692=
ENST00000680927.1:c.2075T=	ENSP00000505473.1:p.Ile692=
ENST00000680939.1:n.2417T=
ENST00000681152.1:c.2075T=	ENSP00000505388.1:p.Ile692=
ENST00000681250.1:c.1471+13049T=	ENSP00000505684.1:n.1471+13049T=
ENST00000681256.1:c.1998+2213T=	ENSP00000505446.1:n.1998+2213T=
ENST00000681279.1:n.2417T=
ENST00000681303.1:c.2075T=	ENSP00000505576.1:p.Ile692=
ENST00000681307.1:n.2417T=
ENST00000681461.1:n.2417T=
ENST00000681619.1:c.2075T=	ENSP00000505071.1:p.Ile692=
ENST00000681716.1:c.2075T=	ENSP00000505078.1:p.Ile692=
ENST00000681758.1:n.2417T=
ENST00000681768.1:c.2075T=	ENSP00000506311.1:p.Ile692=
ENST00000681808.1:c.2075T=	ENSP00000505219.1:p.Ile692=
ENST00000264276.10:c.2075T=	ENSP00000264276.6:p.Ile692=
ENST00000439495.5:c.36T=
ENST00000482789.5:n.2215T=
ENST00000482891.5:n.2215T=
NM_020919.3:c.2075T=	NP_065970.2:p.Ile692=
XM_005246709.2:c.2075T=	XP_005246766.1:p.Ile692=
XM_006712654.1:c.2075T=	XP_006712717.1:p.Ile692=
XM_006712655.2:c.11T=	XP_006712718.1:p.Ile4=
XM_011511530.1:c.1736T=	XP_011509832.1:p.Ile579=
XM_011511531.1:c.2075T=	XP_011509833.1:p.Ile692=
XR_922974.1:n.2210T=
XM_006712654.3:c.2075T=	XP_006712717.1:p.Ile692=
XM_006712655.3:c.11T=	XP_006712718.1:p.Ile4=
XM_017004569.2:c.2075T=	XP_016860058.1:p.Ile692=
XM_017004570.2:c.2075T=	XP_016860059.1:p.Ile692=
XM_017004572.2:c.-411T=	XP_016860061.1:n.-411T=
XM_024453024.1:c.1736T=	XP_024308792.1:p.Ile579=
XM_024453025.1:c.11T=	XP_024308793.1:p.Ile4=
XR_001738864.2:n.2210T=
XR_001738865.2:n.2210T=
XR_001738866.2:n.2210T=
XR_001738867.2:n.2210T=
XR_002959320.1:n.1266T=
NM_020919.4:c.2075T= MANE Select	NP_065970.2:p.Ile692=