Canonical Allele Identifier: CA2662676295

Gene: ALS2

Linked Data

• gnomAD v4: 2-201722863-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722863_201722864insAC , CM000664.2:g.201722863_201722864insAC	GRCh38
NC_000002.11:g.202587586_202587587insAC , CM000664.1:g.202587586_202587587insAC	GRCh37
NC_000002.10:g.202295831_202295832insAC	NCBI36
NG_008775.1:g.63309_63310insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+179_3702+180insGT MANE Select	ENSP00000264276.6:n.3702+179_3702+180insGT
ENST00000439495.6:c.1380+179_1380+180insGT	ENSP00000403832.2:n.1380+179_1380+180insGT
ENST00000482891.6:n.4649_4650insGT
ENST00000494017.6:n.1613_1614insGT
ENST00000679409.1:c.1380+179_1380+180insGT	ENSP00000506531.1:n.1380+179_1380+180insGT
ENST00000679416.1:n.5206+179_5206+180insGT
ENST00000679435.1:c.3702+179_3702+180insGT	ENSP00000505218.1:n.3702+179_3702+180insGT
ENST00000679516.1:c.3702+179_3702+180insGT	ENSP00000505187.1:n.3702+179_3702+180insGT
ENST00000679618.1:c.*790+179_*790+180insGT	ENSP00000506274.1:n.*790+179_*790+180insGT
ENST00000679630.1:n.5551+179_5551+180insGT
ENST00000679686.1:n.3816+179_3816+180insGT
ENST00000679701.1:n.6694+179_6694+180insGT
ENST00000679916.1:c.3702+179_3702+180insGT	ENSP00000506172.1:n.3702+179_3702+180insGT
ENST00000680000.1:c.3702+179_3702+180insGT	ENSP00000506173.1:n.3702+179_3702+180insGT
ENST00000680135.1:c.*1666+179_*1666+180insGT	ENSP00000506211.1:n.*1666+179_*1666+180insGT
ENST00000680149.1:c.3702+179_3702+180insGT	ENSP00000506497.1:n.3702+179_3702+180insGT
ENST00000680163.1:c.3702+179_3702+180insGT	ENSP00000505092.1:n.3702+179_3702+180insGT
ENST00000680174.1:n.4393+179_4393+180insGT
ENST00000680236.1:c.*763+179_*763+180insGT	ENSP00000506212.1:n.*763+179_*763+180insGT
ENST00000680497.1:c.3804+179_3804+180insGT	ENSP00000505954.1:n.3804+179_3804+180insGT
ENST00000680508.1:c.3702+179_3702+180insGT	ENSP00000505749.1:n.3702+179_3702+180insGT
ENST00000680569.1:c.*1413+179_*1413+180insGT	ENSP00000505522.1:n.*1413+179_*1413+180insGT
ENST00000680630.1:n.4134+179_4134+180insGT
ENST00000680634.1:n.21-2375_21-2374insGT
ENST00000680722.1:n.1502+179_1502+180insGT
ENST00000680723.1:n.4664_4665insGT
ENST00000680726.1:c.3702+179_3702+180insGT	ENSP00000505505.1:n.3702+179_3702+180insGT
ENST00000680737.1:n.3973+179_3973+180insGT
ENST00000680759.1:c.3702+179_3702+180insGT	ENSP00000505848.1:n.3702+179_3702+180insGT
ENST00000680814.1:c.3702+179_3702+180insGT	ENSP00000505710.1:n.3702+179_3702+180insGT
ENST00000680828.1:c.*1274+179_*1274+180insGT	ENSP00000505249.1:n.*1274+179_*1274+180insGT
ENST00000680861.1:c.3702+179_3702+180insGT	ENSP00000505043.1:n.3702+179_3702+180insGT
ENST00000680927.1:c.3702+179_3702+180insGT	ENSP00000505473.1:n.3702+179_3702+180insGT
ENST00000680939.1:n.4044+179_4044+180insGT
ENST00000681152.1:c.*167_*168insGT	ENSP00000505388.1:n.*167_*168insGT
ENST00000681250.1:c.*419+179_*419+180insGT	ENSP00000505684.1:n.*419+179_*419+180insGT
ENST00000681256.1:c.*1720+179_*1720+180insGT	ENSP00000505446.1:n.*1720+179_*1720+180insGT
ENST00000681279.1:n.4470+179_4470+180insGT
ENST00000681303.1:c.*167_*168insGT	ENSP00000505576.1:n.*167_*168insGT
ENST00000681307.1:n.4815+179_4815+180insGT
ENST00000681461.1:n.4470+179_4470+180insGT
ENST00000681495.1:c.1242+179_1242+180insGT	ENSP00000506085.1:n.1242+179_1242+180insGT
ENST00000681558.1:c.1380+179_1380+180insGT	ENSP00000505568.1:n.1380+179_1380+180insGT
ENST00000681619.1:c.3702+179_3702+180insGT	ENSP00000505071.1:n.3702+179_3702+180insGT
ENST00000681716.1:c.*1413+179_*1413+180insGT	ENSP00000505078.1:n.*1413+179_*1413+180insGT
ENST00000681758.1:n.4044+179_4044+180insGT
ENST00000681768.1:c.*1366+179_*1366+180insGT	ENSP00000506311.1:n.*1366+179_*1366+180insGT
ENST00000681808.1:c.3702+179_3702+180insGT	ENSP00000505219.1:n.3702+179_3702+180insGT
ENST00000264276.10:c.3702+179_3702+180insGT	ENSP00000264276.6:n.3702+179_3702+180insGT
ENST00000439495.5:c.1663+179_1663+180insGT
ENST00000482891.5:n.4021_4022insGT
ENST00000489440.5:n.523+179_523+180insGT
NM_020919.3:c.3702+179_3702+180insGT	NP_065970.2:n.3702+179_3702+180insGT
XM_005246709.2:c.3702+179_3702+180insGT	XP_005246766.1:n.3702+179_3702+180insGT
XM_006712654.1:c.3702+179_3702+180insGT	XP_006712717.1:n.3702+179_3702+180insGT
XM_006712655.2:c.1638+179_1638+180insGT	XP_006712718.1:n.1638+179_1638+180insGT
XM_011511530.1:c.3363+179_3363+180insGT	XP_011509832.1:n.3363+179_3363+180insGT
XM_011511531.1:c.3702+179_3702+180insGT	XP_011509833.1:n.3702+179_3702+180insGT
XR_922974.1:n.3837+179_3837+180insGT
XM_006712654.3:c.3702+179_3702+180insGT	XP_006712717.1:n.3702+179_3702+180insGT
XM_006712655.3:c.1638+179_1638+180insGT	XP_006712718.1:n.1638+179_1638+180insGT
XM_017004569.2:c.3702+179_3702+180insGT	XP_016860058.1:n.3702+179_3702+180insGT
XM_017004570.2:c.3702+179_3702+180insGT	XP_016860059.1:n.3702+179_3702+180insGT
XM_017004572.2:c.1320+179_1320+180insGT	XP_016860061.1:n.1320+179_1320+180insGT
XM_024453024.1:c.3363+179_3363+180insGT	XP_024308792.1:n.3363+179_3363+180insGT
XM_024453025.1:c.1638+179_1638+180insGT	XP_024308793.1:n.1638+179_1638+180insGT
XR_001738864.2:n.3837+179_3837+180insGT
XR_001738865.2:n.3837+179_3837+180insGT
XR_001738866.2:n.3837+179_3837+180insGT
XR_001738867.2:n.3837+179_3837+180insGT
XR_002959320.1:n.2893+179_2893+180insGT
NM_020919.4:c.3702+179_3702+180insGT MANE Select	NP_065970.2:n.3702+179_3702+180insGT