Canonical Allele Identifier: CA2057839

Gene: ALS2

Linked Data

• dbSNP Id: rs769271300
• ExAC: 2:202588123 T / A
• gnomAD v2: 2-202588123-T-A
• gnomAD v4: 2-201723400-T-A
• MyVariant Identifiers: chr2:g.202588123T>A (hg19) ; chr2:g.201723400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723400T>A , CM000664.2:g.201723400T>A	GRCh38
NC_000002.11:g.202588123T>A , CM000664.1:g.202588123T>A	GRCh37
NC_000002.10:g.202296368T>A	NCBI36
NG_008775.1:g.62773A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.3554A>T MANE Select	ENSP00000264276.6:p.Gln1185Leu
ENST00000439495.6:c.1232A>T	ENSP00000403832.2:p.Gln411Leu
ENST00000482891.6:n.4322A>T
ENST00000494017.6:n.1286A>T
ENST00000679409.1:c.1232A>T	ENSP00000506531.1:p.Gln411Leu
ENST00000679416.1:n.5058A>T
ENST00000679435.1:c.3554A>T	ENSP00000505218.1:p.Gln1185Leu
ENST00000679516.1:c.3554A>T	ENSP00000505187.1:p.Gln1185Leu
ENST00000679618.1:c.*642A>T	ENSP00000506274.1:n.*642A>T
ENST00000679630.1:n.5403A>T
ENST00000679686.1:n.3668A>T
ENST00000679701.1:n.6546A>T
ENST00000679916.1:c.3554A>T	ENSP00000506172.1:p.Gln1185Leu
ENST00000680000.1:c.3554A>T	ENSP00000506173.1:p.Gln1185Leu
ENST00000680135.1:c.*1518A>T	ENSP00000506211.1:n.*1518A>T
ENST00000680149.1:c.3554A>T	ENSP00000506497.1:p.Gln1185Leu
ENST00000680163.1:c.3554A>T	ENSP00000505092.1:p.Gln1185Leu
ENST00000680174.1:n.4245A>T
ENST00000680236.1:c.*615A>T	ENSP00000506212.1:n.*615A>T
ENST00000680497.1:c.3656A>T	ENSP00000505954.1:p.Gln1219Leu
ENST00000680508.1:c.3554A>T	ENSP00000505749.1:p.Gln1185Leu
ENST00000680569.1:c.*1265A>T	ENSP00000505522.1:n.*1265A>T
ENST00000680630.1:n.3986A>T
ENST00000680634.1:n.21-2911A>T
ENST00000680722.1:n.1354A>T
ENST00000680723.1:n.4337A>T
ENST00000680726.1:c.3554A>T	ENSP00000505505.1:p.Gln1185Leu
ENST00000680737.1:n.3825A>T
ENST00000680759.1:c.3554A>T	ENSP00000505848.1:p.Gln1185Leu
ENST00000680814.1:c.3554A>T	ENSP00000505710.1:p.Gln1185Leu
ENST00000680828.1:c.*1126A>T	ENSP00000505249.1:n.*1126A>T
ENST00000680861.1:c.3554A>T	ENSP00000505043.1:p.Gln1185Leu
ENST00000680927.1:c.3554A>T	ENSP00000505473.1:p.Gln1185Leu
ENST00000680939.1:n.3896A>T
ENST00000681152.1:c.3554A>T	ENSP00000505388.1:p.Gln1185Leu
ENST00000681250.1:c.*271A>T	ENSP00000505684.1:n.*271A>T
ENST00000681256.1:c.*1572A>T	ENSP00000505446.1:n.*1572A>T
ENST00000681279.1:n.4322A>T
ENST00000681303.1:c.3554A>T	ENSP00000505576.1:p.Gln1185Leu
ENST00000681307.1:n.4667A>T
ENST00000681461.1:n.4322A>T
ENST00000681495.1:c.1094A>T	ENSP00000506085.1:p.Gln365Leu
ENST00000681558.1:c.1232A>T	ENSP00000505568.1:p.Gln411Leu
ENST00000681619.1:c.3554A>T	ENSP00000505071.1:p.Gln1185Leu
ENST00000681716.1:c.*1265A>T	ENSP00000505078.1:n.*1265A>T
ENST00000681758.1:n.3896A>T
ENST00000681768.1:c.*1218A>T	ENSP00000506311.1:n.*1218A>T
ENST00000681808.1:c.3554A>T	ENSP00000505219.1:p.Gln1185Leu
ENST00000264276.10:c.3554A>T	ENSP00000264276.6:p.Gln1185Leu
ENST00000439495.5:c.1515A>T
ENST00000482891.5:n.3694A>T
ENST00000489440.5:n.375A>T
NM_020919.3:c.3554A>T	NP_065970.2:p.Gln1185Leu
XM_005246709.2:c.3554A>T	XP_005246766.1:p.Gln1185Leu
XM_006712654.1:c.3554A>T	XP_006712717.1:p.Gln1185Leu
XM_006712655.2:c.1490A>T	XP_006712718.1:p.Gln497Leu
XM_011511530.1:c.3215A>T	XP_011509832.1:p.Gln1072Leu
XM_011511531.1:c.3554A>T	XP_011509833.1:p.Gln1185Leu
XR_922974.1:n.3689A>T
XM_006712654.3:c.3554A>T	XP_006712717.1:p.Gln1185Leu
XM_006712655.3:c.1490A>T	XP_006712718.1:p.Gln497Leu
XM_017004569.2:c.3554A>T	XP_016860058.1:p.Gln1185Leu
XM_017004570.2:c.3554A>T	XP_016860059.1:p.Gln1185Leu
XM_017004572.2:c.1172A>T	XP_016860061.1:p.Gln391Leu
XM_024453024.1:c.3215A>T	XP_024308792.1:p.Gln1072Leu
XM_024453025.1:c.1490A>T	XP_024308793.1:p.Gln497Leu
XR_001738864.2:n.3689A>T
XR_001738865.2:n.3689A>T
XR_001738866.2:n.3689A>T
XR_001738867.2:n.3689A>T
XR_002959320.1:n.2745A>T
NM_020919.4:c.3554A>T MANE Select	NP_065970.2:p.Gln1185Leu