Canonical Allele Identifier: CA2701468674

Gene: ALS2

Linked Data

• dbSNP Id: rs2105997633

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722883_201722886del , CM000664.2:g.201722883_201722886del	GRCh38
NC_000002.11:g.202587606_202587609del , CM000664.1:g.202587606_202587609del	GRCh37
NC_000002.10:g.202295851_202295854del	NCBI36
NG_008775.1:g.63288_63291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+158_3702+161del MANE Select	ENSP00000264276.6:n.3702+158_3702+161del
ENST00000439495.6:c.1380+158_1380+161del	ENSP00000403832.2:n.1380+158_1380+161del
ENST00000482891.6:n.4628_4631del
ENST00000494017.6:n.1592_1595del
ENST00000679409.1:c.1380+158_1380+161del	ENSP00000506531.1:n.1380+158_1380+161del
ENST00000679416.1:n.5206+158_5206+161del
ENST00000679435.1:c.3702+158_3702+161del	ENSP00000505218.1:n.3702+158_3702+161del
ENST00000679516.1:c.3702+158_3702+161del	ENSP00000505187.1:n.3702+158_3702+161del
ENST00000679618.1:c.*790+158_*790+161del	ENSP00000506274.1:n.*790+158_*790+161del
ENST00000679630.1:n.5551+158_5551+161del
ENST00000679686.1:n.3816+158_3816+161del
ENST00000679701.1:n.6694+158_6694+161del
ENST00000679916.1:c.3702+158_3702+161del	ENSP00000506172.1:n.3702+158_3702+161del
ENST00000680000.1:c.3702+158_3702+161del	ENSP00000506173.1:n.3702+158_3702+161del
ENST00000680135.1:c.*1666+158_*1666+161del	ENSP00000506211.1:n.*1666+158_*1666+161del
ENST00000680149.1:c.3702+158_3702+161del	ENSP00000506497.1:n.3702+158_3702+161del
ENST00000680163.1:c.3702+158_3702+161del	ENSP00000505092.1:n.3702+158_3702+161del
ENST00000680174.1:n.4393+158_4393+161del
ENST00000680236.1:c.*763+158_*763+161del	ENSP00000506212.1:n.*763+158_*763+161del
ENST00000680497.1:c.3804+158_3804+161del	ENSP00000505954.1:n.3804+158_3804+161del
ENST00000680508.1:c.3702+158_3702+161del	ENSP00000505749.1:n.3702+158_3702+161del
ENST00000680569.1:c.*1413+158_*1413+161del	ENSP00000505522.1:n.*1413+158_*1413+161del
ENST00000680630.1:n.4134+158_4134+161del
ENST00000680634.1:n.21-2396_21-2393del
ENST00000680722.1:n.1502+158_1502+161del
ENST00000680723.1:n.4643_4646del
ENST00000680726.1:c.3702+158_3702+161del	ENSP00000505505.1:n.3702+158_3702+161del
ENST00000680737.1:n.3973+158_3973+161del
ENST00000680759.1:c.3702+158_3702+161del	ENSP00000505848.1:n.3702+158_3702+161del
ENST00000680814.1:c.3702+158_3702+161del	ENSP00000505710.1:n.3702+158_3702+161del
ENST00000680828.1:c.*1274+158_*1274+161del	ENSP00000505249.1:n.*1274+158_*1274+161del
ENST00000680861.1:c.3702+158_3702+161del	ENSP00000505043.1:n.3702+158_3702+161del
ENST00000680927.1:c.3702+158_3702+161del	ENSP00000505473.1:n.3702+158_3702+161del
ENST00000680939.1:n.4044+158_4044+161del
ENST00000681152.1:c.*146_*149del	ENSP00000505388.1:n.*146_*149del
ENST00000681250.1:c.*419+158_*419+161del	ENSP00000505684.1:n.*419+158_*419+161del
ENST00000681256.1:c.*1720+158_*1720+161del	ENSP00000505446.1:n.*1720+158_*1720+161del
ENST00000681279.1:n.4470+158_4470+161del
ENST00000681303.1:c.*146_*149del	ENSP00000505576.1:n.*146_*149del
ENST00000681307.1:n.4815+158_4815+161del
ENST00000681461.1:n.4470+158_4470+161del
ENST00000681495.1:c.1242+158_1242+161del	ENSP00000506085.1:n.1242+158_1242+161del
ENST00000681558.1:c.1380+158_1380+161del	ENSP00000505568.1:n.1380+158_1380+161del
ENST00000681619.1:c.3702+158_3702+161del	ENSP00000505071.1:n.3702+158_3702+161del
ENST00000681716.1:c.*1413+158_*1413+161del	ENSP00000505078.1:n.*1413+158_*1413+161del
ENST00000681758.1:n.4044+158_4044+161del
ENST00000681768.1:c.*1366+158_*1366+161del	ENSP00000506311.1:n.*1366+158_*1366+161del
ENST00000681808.1:c.3702+158_3702+161del	ENSP00000505219.1:n.3702+158_3702+161del
ENST00000264276.10:c.3702+158_3702+161del	ENSP00000264276.6:n.3702+158_3702+161del
ENST00000439495.5:c.1663+158_1663+161del
ENST00000482891.5:n.4000_4003del
ENST00000489440.5:n.523+158_523+161del
NM_020919.3:c.3702+158_3702+161del	NP_065970.2:n.3702+158_3702+161del
XM_005246709.2:c.3702+158_3702+161del	XP_005246766.1:n.3702+158_3702+161del
XM_006712654.1:c.3702+158_3702+161del	XP_006712717.1:n.3702+158_3702+161del
XM_006712655.2:c.1638+158_1638+161del	XP_006712718.1:n.1638+158_1638+161del
XM_011511530.1:c.3363+158_3363+161del	XP_011509832.1:n.3363+158_3363+161del
XM_011511531.1:c.3702+158_3702+161del	XP_011509833.1:n.3702+158_3702+161del
XR_922974.1:n.3837+158_3837+161del
XM_006712654.3:c.3702+158_3702+161del	XP_006712717.1:n.3702+158_3702+161del
XM_006712655.3:c.1638+158_1638+161del	XP_006712718.1:n.1638+158_1638+161del
XM_017004569.2:c.3702+158_3702+161del	XP_016860058.1:n.3702+158_3702+161del
XM_017004570.2:c.3702+158_3702+161del	XP_016860059.1:n.3702+158_3702+161del
XM_017004572.2:c.1320+158_1320+161del	XP_016860061.1:n.1320+158_1320+161del
XM_024453024.1:c.3363+158_3363+161del	XP_024308792.1:n.3363+158_3363+161del
XM_024453025.1:c.1638+158_1638+161del	XP_024308793.1:n.1638+158_1638+161del
XR_001738864.2:n.3837+158_3837+161del
XR_001738865.2:n.3837+158_3837+161del
XR_001738866.2:n.3837+158_3837+161del
XR_001738867.2:n.3837+158_3837+161del
XR_002959320.1:n.2893+158_2893+161del
NM_020919.4:c.3702+158_3702+161del MANE Select	NP_065970.2:n.3702+158_3702+161del