Canonical Allele Identifier: CA2662676297

Gene: ALS2

Linked Data

• gnomAD v4: 2-201722868-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722869dup , CM000664.2:g.201722869dup	GRCh38
NC_000002.11:g.202587592dup , CM000664.1:g.202587592dup	GRCh37
NC_000002.10:g.202295837dup	NCBI36
NG_008775.1:g.63304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+174dup MANE Select	ENSP00000264276.6:n.3702+174dup
ENST00000439495.6:c.1380+174dup	ENSP00000403832.2:n.1380+174dup
ENST00000482891.6:n.4644dup
ENST00000494017.6:n.1608dup
ENST00000679409.1:c.1380+174dup	ENSP00000506531.1:n.1380+174dup
ENST00000679416.1:n.5206+174dup
ENST00000679435.1:c.3702+174dup	ENSP00000505218.1:n.3702+174dup
ENST00000679516.1:c.3702+174dup	ENSP00000505187.1:n.3702+174dup
ENST00000679618.1:c.*790+174dup	ENSP00000506274.1:n.*790+174dup
ENST00000679630.1:n.5551+174dup
ENST00000679686.1:n.3816+174dup
ENST00000679701.1:n.6694+174dup
ENST00000679916.1:c.3702+174dup	ENSP00000506172.1:n.3702+174dup
ENST00000680000.1:c.3702+174dup	ENSP00000506173.1:n.3702+174dup
ENST00000680135.1:c.*1666+174dup	ENSP00000506211.1:n.*1666+174dup
ENST00000680149.1:c.3702+174dup	ENSP00000506497.1:n.3702+174dup
ENST00000680163.1:c.3702+174dup	ENSP00000505092.1:n.3702+174dup
ENST00000680174.1:n.4393+174dup
ENST00000680236.1:c.*763+174dup	ENSP00000506212.1:n.*763+174dup
ENST00000680497.1:c.3804+174dup	ENSP00000505954.1:n.3804+174dup
ENST00000680508.1:c.3702+174dup	ENSP00000505749.1:n.3702+174dup
ENST00000680569.1:c.*1413+174dup	ENSP00000505522.1:n.*1413+174dup
ENST00000680630.1:n.4134+174dup
ENST00000680634.1:n.21-2380dup
ENST00000680722.1:n.1502+174dup
ENST00000680723.1:n.4659dup
ENST00000680726.1:c.3702+174dup	ENSP00000505505.1:n.3702+174dup
ENST00000680737.1:n.3973+174dup
ENST00000680759.1:c.3702+174dup	ENSP00000505848.1:n.3702+174dup
ENST00000680814.1:c.3702+174dup	ENSP00000505710.1:n.3702+174dup
ENST00000680828.1:c.*1274+174dup	ENSP00000505249.1:n.*1274+174dup
ENST00000680861.1:c.3702+174dup	ENSP00000505043.1:n.3702+174dup
ENST00000680927.1:c.3702+174dup	ENSP00000505473.1:n.3702+174dup
ENST00000680939.1:n.4044+174dup
ENST00000681152.1:c.*162dup	ENSP00000505388.1:n.*162dup
ENST00000681250.1:c.*419+174dup	ENSP00000505684.1:n.*419+174dup
ENST00000681256.1:c.*1720+174dup	ENSP00000505446.1:n.*1720+174dup
ENST00000681279.1:n.4470+174dup
ENST00000681303.1:c.*162dup	ENSP00000505576.1:n.*162dup
ENST00000681307.1:n.4815+174dup
ENST00000681461.1:n.4470+174dup
ENST00000681495.1:c.1242+174dup	ENSP00000506085.1:n.1242+174dup
ENST00000681558.1:c.1380+174dup	ENSP00000505568.1:n.1380+174dup
ENST00000681619.1:c.3702+174dup	ENSP00000505071.1:n.3702+174dup
ENST00000681716.1:c.*1413+174dup	ENSP00000505078.1:n.*1413+174dup
ENST00000681758.1:n.4044+174dup
ENST00000681768.1:c.*1366+174dup	ENSP00000506311.1:n.*1366+174dup
ENST00000681808.1:c.3702+174dup	ENSP00000505219.1:n.3702+174dup
ENST00000264276.10:c.3702+174dup	ENSP00000264276.6:n.3702+174dup
ENST00000439495.5:c.1663+174dup
ENST00000482891.5:n.4016dup
ENST00000489440.5:n.523+174dup
NM_020919.3:c.3702+174dup	NP_065970.2:n.3702+174dup
XM_005246709.2:c.3702+174dup	XP_005246766.1:n.3702+174dup
XM_006712654.1:c.3702+174dup	XP_006712717.1:n.3702+174dup
XM_006712655.2:c.1638+174dup	XP_006712718.1:n.1638+174dup
XM_011511530.1:c.3363+174dup	XP_011509832.1:n.3363+174dup
XM_011511531.1:c.3702+174dup	XP_011509833.1:n.3702+174dup
XR_922974.1:n.3837+174dup
XM_006712654.3:c.3702+174dup	XP_006712717.1:n.3702+174dup
XM_006712655.3:c.1638+174dup	XP_006712718.1:n.1638+174dup
XM_017004569.2:c.3702+174dup	XP_016860058.1:n.3702+174dup
XM_017004570.2:c.3702+174dup	XP_016860059.1:n.3702+174dup
XM_017004572.2:c.1320+174dup	XP_016860061.1:n.1320+174dup
XM_024453024.1:c.3363+174dup	XP_024308792.1:n.3363+174dup
XM_024453025.1:c.1638+174dup	XP_024308793.1:n.1638+174dup
XR_001738864.2:n.3837+174dup
XR_001738865.2:n.3837+174dup
XR_001738866.2:n.3837+174dup
XR_001738867.2:n.3837+174dup
XR_002959320.1:n.2893+174dup
NM_020919.4:c.3702+174dup MANE Select	NP_065970.2:n.3702+174dup