Canonical Allele Identifier: CA1041262529

Gene: ALS2

Linked Data

• gnomAD v3: 2-201722923-A-ACC
• gnomAD v4: 2-201722923-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722924_201722925insCC , CM000664.2:g.201722924_201722925insCC	GRCh38
NC_000002.11:g.202587647_202587648insCC , CM000664.1:g.202587647_202587648insCC	GRCh37
NC_000002.10:g.202295892_202295893insCC	NCBI36
NG_008775.1:g.63249_63250insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+119_3702+120insGG MANE Select	ENSP00000264276.6:n.3702+119_3702+120insGG
ENST00000439495.6:c.1380+119_1380+120insGG	ENSP00000403832.2:n.1380+119_1380+120insGG
ENST00000482891.6:n.4589_4590insGG
ENST00000494017.6:n.1553_1554insGG
ENST00000679409.1:c.1380+119_1380+120insGG	ENSP00000506531.1:n.1380+119_1380+120insGG
ENST00000679416.1:n.5206+119_5206+120insGG
ENST00000679435.1:c.3702+119_3702+120insGG	ENSP00000505218.1:n.3702+119_3702+120insGG
ENST00000679516.1:c.3702+119_3702+120insGG	ENSP00000505187.1:n.3702+119_3702+120insGG
ENST00000679618.1:c.*790+119_*790+120insGG	ENSP00000506274.1:n.*790+119_*790+120insGG
ENST00000679630.1:n.5551+119_5551+120insGG
ENST00000679686.1:n.3816+119_3816+120insGG
ENST00000679701.1:n.6694+119_6694+120insGG
ENST00000679916.1:c.3702+119_3702+120insGG	ENSP00000506172.1:n.3702+119_3702+120insGG
ENST00000680000.1:c.3702+119_3702+120insGG	ENSP00000506173.1:n.3702+119_3702+120insGG
ENST00000680135.1:c.*1666+119_*1666+120insGG	ENSP00000506211.1:n.*1666+119_*1666+120insGG
ENST00000680149.1:c.3702+119_3702+120insGG	ENSP00000506497.1:n.3702+119_3702+120insGG
ENST00000680163.1:c.3702+119_3702+120insGG	ENSP00000505092.1:n.3702+119_3702+120insGG
ENST00000680174.1:n.4393+119_4393+120insGG
ENST00000680236.1:c.*763+119_*763+120insGG	ENSP00000506212.1:n.*763+119_*763+120insGG
ENST00000680497.1:c.3804+119_3804+120insGG	ENSP00000505954.1:n.3804+119_3804+120insGG
ENST00000680508.1:c.3702+119_3702+120insGG	ENSP00000505749.1:n.3702+119_3702+120insGG
ENST00000680569.1:c.*1413+119_*1413+120insGG	ENSP00000505522.1:n.*1413+119_*1413+120insGG
ENST00000680630.1:n.4134+119_4134+120insGG
ENST00000680634.1:n.21-2435_21-2434insGG
ENST00000680722.1:n.1502+119_1502+120insGG
ENST00000680723.1:n.4604_4605insGG
ENST00000680726.1:c.3702+119_3702+120insGG	ENSP00000505505.1:n.3702+119_3702+120insGG
ENST00000680737.1:n.3973+119_3973+120insGG
ENST00000680759.1:c.3702+119_3702+120insGG	ENSP00000505848.1:n.3702+119_3702+120insGG
ENST00000680814.1:c.3702+119_3702+120insGG	ENSP00000505710.1:n.3702+119_3702+120insGG
ENST00000680828.1:c.*1274+119_*1274+120insGG	ENSP00000505249.1:n.*1274+119_*1274+120insGG
ENST00000680861.1:c.3702+119_3702+120insGG	ENSP00000505043.1:n.3702+119_3702+120insGG
ENST00000680927.1:c.3702+119_3702+120insGG	ENSP00000505473.1:n.3702+119_3702+120insGG
ENST00000680939.1:n.4044+119_4044+120insGG
ENST00000681152.1:c.*107_*108insGG	ENSP00000505388.1:n.*107_*108insGG
ENST00000681250.1:c.*419+119_*419+120insGG	ENSP00000505684.1:n.*419+119_*419+120insGG
ENST00000681256.1:c.*1720+119_*1720+120insGG	ENSP00000505446.1:n.*1720+119_*1720+120insGG
ENST00000681279.1:n.4470+119_4470+120insGG
ENST00000681303.1:c.*107_*108insGG	ENSP00000505576.1:n.*107_*108insGG
ENST00000681307.1:n.4815+119_4815+120insGG
ENST00000681461.1:n.4470+119_4470+120insGG
ENST00000681495.1:c.1242+119_1242+120insGG	ENSP00000506085.1:n.1242+119_1242+120insGG
ENST00000681558.1:c.1380+119_1380+120insGG	ENSP00000505568.1:n.1380+119_1380+120insGG
ENST00000681619.1:c.3702+119_3702+120insGG	ENSP00000505071.1:n.3702+119_3702+120insGG
ENST00000681716.1:c.*1413+119_*1413+120insGG	ENSP00000505078.1:n.*1413+119_*1413+120insGG
ENST00000681758.1:n.4044+119_4044+120insGG
ENST00000681768.1:c.*1366+119_*1366+120insGG	ENSP00000506311.1:n.*1366+119_*1366+120insGG
ENST00000681808.1:c.3702+119_3702+120insGG	ENSP00000505219.1:n.3702+119_3702+120insGG
ENST00000264276.10:c.3702+119_3702+120insGG	ENSP00000264276.6:n.3702+119_3702+120insGG
ENST00000439495.5:c.1663+119_1663+120insGG
ENST00000482891.5:n.3961_3962insGG
ENST00000489440.5:n.523+119_523+120insGG
NM_020919.3:c.3702+119_3702+120insGG	NP_065970.2:n.3702+119_3702+120insGG
XM_005246709.2:c.3702+119_3702+120insGG	XP_005246766.1:n.3702+119_3702+120insGG
XM_006712654.1:c.3702+119_3702+120insGG	XP_006712717.1:n.3702+119_3702+120insGG
XM_006712655.2:c.1638+119_1638+120insGG	XP_006712718.1:n.1638+119_1638+120insGG
XM_011511530.1:c.3363+119_3363+120insGG	XP_011509832.1:n.3363+119_3363+120insGG
XM_011511531.1:c.3702+119_3702+120insGG	XP_011509833.1:n.3702+119_3702+120insGG
XR_922974.1:n.3837+119_3837+120insGG
XM_006712654.3:c.3702+119_3702+120insGG	XP_006712717.1:n.3702+119_3702+120insGG
XM_006712655.3:c.1638+119_1638+120insGG	XP_006712718.1:n.1638+119_1638+120insGG
XM_017004569.2:c.3702+119_3702+120insGG	XP_016860058.1:n.3702+119_3702+120insGG
XM_017004570.2:c.3702+119_3702+120insGG	XP_016860059.1:n.3702+119_3702+120insGG
XM_017004572.2:c.1320+119_1320+120insGG	XP_016860061.1:n.1320+119_1320+120insGG
XM_024453024.1:c.3363+119_3363+120insGG	XP_024308792.1:n.3363+119_3363+120insGG
XM_024453025.1:c.1638+119_1638+120insGG	XP_024308793.1:n.1638+119_1638+120insGG
XR_001738864.2:n.3837+119_3837+120insGG
XR_001738865.2:n.3837+119_3837+120insGG
XR_001738866.2:n.3837+119_3837+120insGG
XR_001738867.2:n.3837+119_3837+120insGG
XR_002959320.1:n.2893+119_2893+120insGG
NM_020919.4:c.3702+119_3702+120insGG MANE Select	NP_065970.2:n.3702+119_3702+120insGG