Canonical Allele Identifier: CA2057897

Gene: ALS2

Linked Data

• dbSNP Id: rs749736168
• ExAC: 2:202589175 A / AT
• MyVariant Identifiers: chr2:g.202589175_202589176insT (hg19) ; chr2:g.201724452_201724453insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201724452_201724453insT , CM000664.2:g.201724452_201724453insT	GRCh38
NC_000002.11:g.202589175_202589176insT , CM000664.1:g.202589175_202589176insT	GRCh37
NC_000002.10:g.202297420_202297421insT	NCBI36
NG_008775.1:g.61720_61721insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3354_3355insA MANE Select	ENSP00000264276.6:p.Ser1119IlefsTer3
ENST00000439495.6:c.1032_1033insA	ENSP00000403832.2:p.Ser345IlefsTer3
ENST00000482891.6:n.4122_4123insA
ENST00000494017.6:n.1086_1087insA
ENST00000679409.1:c.1032_1033insA	ENSP00000506531.1:p.Ser345IlefsTer3
ENST00000679416.1:n.4858_4859insA
ENST00000679435.1:c.3354_3355insA	ENSP00000505218.1:p.Ser1119IlefsTer3
ENST00000679516.1:c.3354_3355insA	ENSP00000505187.1:p.Ser1119IlefsTer3
ENST00000679618.1:c.*442_*443insA	ENSP00000506274.1:n.*442_*443insA
ENST00000679630.1:n.5203_5204insA
ENST00000679686.1:n.3468_3469insA
ENST00000679701.1:n.6346_6347insA
ENST00000679916.1:c.3354_3355insA	ENSP00000506172.1:p.Ser1119IlefsTer3
ENST00000680000.1:c.3354_3355insA	ENSP00000506173.1:p.Ser1119IlefsTer3
ENST00000680135.1:c.*1318_*1319insA	ENSP00000506211.1:n.*1318_*1319insA
ENST00000680149.1:c.3354_3355insA	ENSP00000506497.1:p.Ser1119IlefsTer3
ENST00000680163.1:c.3354_3355insA	ENSP00000505092.1:p.Ser1119IlefsTer3
ENST00000680174.1:n.4045_4046insA
ENST00000680236.1:c.*415_*416insA	ENSP00000506212.1:n.*415_*416insA
ENST00000680497.1:c.3456_3457insA	ENSP00000505954.1:p.Ser1153IlefsTer3
ENST00000680508.1:c.3354_3355insA	ENSP00000505749.1:p.Ser1119IlefsTer3
ENST00000680569.1:c.*1065_*1066insA	ENSP00000505522.1:n.*1065_*1066insA
ENST00000680630.1:n.3786_3787insA
ENST00000680634.1:n.21-3964_21-3963insA
ENST00000680722.1:n.1154_1155insA
ENST00000680723.1:n.4137_4138insA
ENST00000680726.1:c.3354_3355insA	ENSP00000505505.1:p.Ser1119IlefsTer3
ENST00000680737.1:n.3625_3626insA
ENST00000680759.1:c.3354_3355insA	ENSP00000505848.1:p.Ser1119IlefsTer3
ENST00000680814.1:c.3354_3355insA	ENSP00000505710.1:p.Ser1119IlefsTer3
ENST00000680828.1:c.*926_*927insA	ENSP00000505249.1:n.*926_*927insA
ENST00000680861.1:c.3354_3355insA	ENSP00000505043.1:p.Ser1119IlefsTer3
ENST00000680927.1:c.3354_3355insA	ENSP00000505473.1:p.Ser1119IlefsTer3
ENST00000680939.1:n.3696_3697insA
ENST00000681152.1:c.3354_3355insA	ENSP00000505388.1:p.Ser1119IlefsTer3
ENST00000681250.1:c.*71_*72insA	ENSP00000505684.1:n.*71_*72insA
ENST00000681256.1:c.*1372_*1373insA	ENSP00000505446.1:n.*1372_*1373insA
ENST00000681279.1:n.4122_4123insA
ENST00000681303.1:c.3354_3355insA	ENSP00000505576.1:p.Ser1119IlefsTer3
ENST00000681307.1:n.4467_4468insA
ENST00000681461.1:n.4122_4123insA
ENST00000681495.1:c.894_895insA	ENSP00000506085.1:p.Ser299IlefsTer3
ENST00000681558.1:c.1032_1033insA	ENSP00000505568.1:p.Ser345IlefsTer3
ENST00000681619.1:c.3354_3355insA	ENSP00000505071.1:p.Ser1119IlefsTer3
ENST00000681716.1:c.*1065_*1066insA	ENSP00000505078.1:n.*1065_*1066insA
ENST00000681758.1:n.3696_3697insA
ENST00000681768.1:c.*1018_*1019insA	ENSP00000506311.1:n.*1018_*1019insA
ENST00000681808.1:c.3354_3355insA	ENSP00000505219.1:p.Ser1119IlefsTer3
ENST00000264276.10:c.3354_3355insA	ENSP00000264276.6:p.Ser1119IlefsTer3
ENST00000439495.5:c.1315_1316insA
ENST00000482891.5:n.3494_3495insA
ENST00000489440.5:n.175_176insA
NM_020919.3:c.3354_3355insA	NP_065970.2:p.Ser1119IlefsTer3
XM_005246709.2:c.3354_3355insA	XP_005246766.1:p.Ser1119IlefsTer3
XM_006712654.1:c.3354_3355insA	XP_006712717.1:p.Ser1119IlefsTer3
XM_006712655.2:c.1290_1291insA	XP_006712718.1:p.Ser431IlefsTer3
XM_011511530.1:c.3015_3016insA	XP_011509832.1:p.Ser1006IlefsTer3
XM_011511531.1:c.3354_3355insA	XP_011509833.1:p.Ser1119IlefsTer3
XR_922974.1:n.3489_3490insA
XM_006712654.3:c.3354_3355insA	XP_006712717.1:p.Ser1119IlefsTer3
XM_006712655.3:c.1290_1291insA	XP_006712718.1:p.Ser431IlefsTer3
XM_017004569.2:c.3354_3355insA	XP_016860058.1:p.Ser1119IlefsTer3
XM_017004570.2:c.3354_3355insA	XP_016860059.1:p.Ser1119IlefsTer3
XM_017004572.2:c.972_973insA	XP_016860061.1:p.Ser325IlefsTer3
XM_024453024.1:c.3015_3016insA	XP_024308792.1:p.Ser1006IlefsTer3
XM_024453025.1:c.1290_1291insA	XP_024308793.1:p.Ser431IlefsTer3
XR_001738864.2:n.3489_3490insA
XR_001738865.2:n.3489_3490insA
XR_001738866.2:n.3489_3490insA
XR_001738867.2:n.3489_3490insA
XR_002959320.1:n.2545_2546insA
NM_020919.4:c.3354_3355insA MANE Select	NP_065970.2:p.Ser1119IlefsTer3