Canonical Allele Identifier: CA538957057

Gene: ALS2

Linked Data

• dbSNP Id: rs1173793979
• gnomAD v2: 2-202587710-AAAAAATT-A
• gnomAD v4: 2-201722987-AAAAAATT-A
• MyVariant Identifiers: chr2:g.202587711_202587717del (hg19) ; chr2:g.201722988_201722994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201722989_201722995del , CM000664.2:g.201722989_201722995del	GRCh38
NC_000002.11:g.202587712_202587718del , CM000664.1:g.202587712_202587718del	GRCh37
NC_000002.10:g.202295957_202295963del	NCBI36
NG_008775.1:g.63179_63185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+49_3702+55del MANE Select	ENSP00000264276.6:n.3702+49_3702+55del
ENST00000439495.6:c.1380+49_1380+55del	ENSP00000403832.2:n.1380+49_1380+55del
ENST00000482891.6:n.4519_4525del
ENST00000494017.6:n.1483_1489del
ENST00000679409.1:c.1380+49_1380+55del	ENSP00000506531.1:n.1380+49_1380+55del
ENST00000679416.1:n.5206+49_5206+55del
ENST00000679435.1:c.3702+49_3702+55del	ENSP00000505218.1:n.3702+49_3702+55del
ENST00000679516.1:c.3702+49_3702+55del	ENSP00000505187.1:n.3702+49_3702+55del
ENST00000679618.1:c.*790+49_*790+55del	ENSP00000506274.1:n.*790+49_*790+55del
ENST00000679630.1:n.5551+49_5551+55del
ENST00000679686.1:n.3816+49_3816+55del
ENST00000679701.1:n.6694+49_6694+55del
ENST00000679916.1:c.3702+49_3702+55del	ENSP00000506172.1:n.3702+49_3702+55del
ENST00000680000.1:c.3702+49_3702+55del	ENSP00000506173.1:n.3702+49_3702+55del
ENST00000680135.1:c.*1666+49_*1666+55del	ENSP00000506211.1:n.*1666+49_*1666+55del
ENST00000680149.1:c.3702+49_3702+55del	ENSP00000506497.1:n.3702+49_3702+55del
ENST00000680163.1:c.3702+49_3702+55del	ENSP00000505092.1:n.3702+49_3702+55del
ENST00000680174.1:n.4393+49_4393+55del
ENST00000680236.1:c.*763+49_*763+55del	ENSP00000506212.1:n.*763+49_*763+55del
ENST00000680497.1:c.3804+49_3804+55del	ENSP00000505954.1:n.3804+49_3804+55del
ENST00000680508.1:c.3702+49_3702+55del	ENSP00000505749.1:n.3702+49_3702+55del
ENST00000680569.1:c.*1413+49_*1413+55del	ENSP00000505522.1:n.*1413+49_*1413+55del
ENST00000680630.1:n.4134+49_4134+55del
ENST00000680634.1:n.21-2505_21-2499del
ENST00000680722.1:n.1502+49_1502+55del
ENST00000680723.1:n.4534_4540del
ENST00000680726.1:c.3702+49_3702+55del	ENSP00000505505.1:n.3702+49_3702+55del
ENST00000680737.1:n.3973+49_3973+55del
ENST00000680759.1:c.3702+49_3702+55del	ENSP00000505848.1:n.3702+49_3702+55del
ENST00000680814.1:c.3702+49_3702+55del	ENSP00000505710.1:n.3702+49_3702+55del
ENST00000680828.1:c.*1274+49_*1274+55del	ENSP00000505249.1:n.*1274+49_*1274+55del
ENST00000680861.1:c.3702+49_3702+55del	ENSP00000505043.1:n.3702+49_3702+55del
ENST00000680927.1:c.3702+49_3702+55del	ENSP00000505473.1:n.3702+49_3702+55del
ENST00000680939.1:n.4044+49_4044+55del
ENST00000681152.1:c.*37_*43del	ENSP00000505388.1:n.*37_*43del
ENST00000681250.1:c.*419+49_*419+55del	ENSP00000505684.1:n.*419+49_*419+55del
ENST00000681256.1:c.*1720+49_*1720+55del	ENSP00000505446.1:n.*1720+49_*1720+55del
ENST00000681279.1:n.4470+49_4470+55del
ENST00000681303.1:c.*37_*43del	ENSP00000505576.1:n.*37_*43del
ENST00000681307.1:n.4815+49_4815+55del
ENST00000681461.1:n.4470+49_4470+55del
ENST00000681495.1:c.1242+49_1242+55del	ENSP00000506085.1:n.1242+49_1242+55del
ENST00000681558.1:c.1380+49_1380+55del	ENSP00000505568.1:n.1380+49_1380+55del
ENST00000681619.1:c.3702+49_3702+55del	ENSP00000505071.1:n.3702+49_3702+55del
ENST00000681716.1:c.*1413+49_*1413+55del	ENSP00000505078.1:n.*1413+49_*1413+55del
ENST00000681758.1:n.4044+49_4044+55del
ENST00000681768.1:c.*1366+49_*1366+55del	ENSP00000506311.1:n.*1366+49_*1366+55del
ENST00000681808.1:c.3702+49_3702+55del	ENSP00000505219.1:n.3702+49_3702+55del
ENST00000264276.10:c.3702+49_3702+55del	ENSP00000264276.6:n.3702+49_3702+55del
ENST00000439495.5:c.1663+49_1663+55del
ENST00000482891.5:n.3891_3897del
ENST00000489440.5:n.523+49_523+55del
NM_020919.3:c.3702+49_3702+55del	NP_065970.2:n.3702+49_3702+55del
XM_005246709.2:c.3702+49_3702+55del	XP_005246766.1:n.3702+49_3702+55del
XM_006712654.1:c.3702+49_3702+55del	XP_006712717.1:n.3702+49_3702+55del
XM_006712655.2:c.1638+49_1638+55del	XP_006712718.1:n.1638+49_1638+55del
XM_011511530.1:c.3363+49_3363+55del	XP_011509832.1:n.3363+49_3363+55del
XM_011511531.1:c.3702+49_3702+55del	XP_011509833.1:n.3702+49_3702+55del
XR_922974.1:n.3837+49_3837+55del
XM_006712654.3:c.3702+49_3702+55del	XP_006712717.1:n.3702+49_3702+55del
XM_006712655.3:c.1638+49_1638+55del	XP_006712718.1:n.1638+49_1638+55del
XM_017004569.2:c.3702+49_3702+55del	XP_016860058.1:n.3702+49_3702+55del
XM_017004570.2:c.3702+49_3702+55del	XP_016860059.1:n.3702+49_3702+55del
XM_017004572.2:c.1320+49_1320+55del	XP_016860061.1:n.1320+49_1320+55del
XM_024453024.1:c.3363+49_3363+55del	XP_024308792.1:n.3363+49_3363+55del
XM_024453025.1:c.1638+49_1638+55del	XP_024308793.1:n.1638+49_1638+55del
XR_001738864.2:n.3837+49_3837+55del
XR_001738865.2:n.3837+49_3837+55del
XR_001738866.2:n.3837+49_3837+55del
XR_001738867.2:n.3837+49_3837+55del
XR_002959320.1:n.2893+49_2893+55del
NM_020919.4:c.3702+49_3702+55del MANE Select	NP_065970.2:n.3702+49_3702+55del