Canonical Allele Identifier: CA2057792

Gene: ALS2

Linked Data

• ClinVar Variation Id: 1586213
• ClinVar RCV Id: RCV002098106
• dbSNP Id: rs751712553
• ExAC: 2:202587745 AAAAG / A
• gnomAD v2: 2-202587745-AAAAG-A
• gnomAD v3: 2-201723022-AAAAG-A
• gnomAD v4: 2-201723022-AAAAG-A
• MyVariant Identifiers: chr2:g.202587746_202587749del (hg19) ; chr2:g.201723023_201723026del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723027_201723030del , CM000664.2:g.201723027_201723030del	GRCh38
NC_000002.11:g.202587750_202587753del , CM000664.1:g.202587750_202587753del	GRCh37
NC_000002.10:g.202295995_202295998del	NCBI36
NG_008775.1:g.63147_63150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3702+17_3702+20del MANE Select	ENSP00000264276.6:n.3702+17_3702+20del
ENST00000439495.6:c.1380+17_1380+20del	ENSP00000403832.2:n.1380+17_1380+20del
ENST00000482891.6:n.4487_4490del
ENST00000494017.6:n.1451_1454del
ENST00000679409.1:c.1380+17_1380+20del	ENSP00000506531.1:n.1380+17_1380+20del
ENST00000679416.1:n.5206+17_5206+20del
ENST00000679435.1:c.3702+17_3702+20del	ENSP00000505218.1:n.3702+17_3702+20del
ENST00000679516.1:c.3702+17_3702+20del	ENSP00000505187.1:n.3702+17_3702+20del
ENST00000679618.1:c.*790+17_*790+20del	ENSP00000506274.1:n.*790+17_*790+20del
ENST00000679630.1:n.5551+17_5551+20del
ENST00000679686.1:n.3816+17_3816+20del
ENST00000679701.1:n.6694+17_6694+20del
ENST00000679916.1:c.3702+17_3702+20del	ENSP00000506172.1:n.3702+17_3702+20del
ENST00000680000.1:c.3702+17_3702+20del	ENSP00000506173.1:n.3702+17_3702+20del
ENST00000680135.1:c.*1666+17_*1666+20del	ENSP00000506211.1:n.*1666+17_*1666+20del
ENST00000680149.1:c.3702+17_3702+20del	ENSP00000506497.1:n.3702+17_3702+20del
ENST00000680163.1:c.3702+17_3702+20del	ENSP00000505092.1:n.3702+17_3702+20del
ENST00000680174.1:n.4393+17_4393+20del
ENST00000680236.1:c.*763+17_*763+20del	ENSP00000506212.1:n.*763+17_*763+20del
ENST00000680497.1:c.3804+17_3804+20del	ENSP00000505954.1:n.3804+17_3804+20del
ENST00000680508.1:c.3702+17_3702+20del	ENSP00000505749.1:n.3702+17_3702+20del
ENST00000680569.1:c.*1413+17_*1413+20del	ENSP00000505522.1:n.*1413+17_*1413+20del
ENST00000680630.1:n.4134+17_4134+20del
ENST00000680634.1:n.21-2537_21-2534del
ENST00000680722.1:n.1502+17_1502+20del
ENST00000680723.1:n.4502_4505del
ENST00000680726.1:c.3702+17_3702+20del	ENSP00000505505.1:n.3702+17_3702+20del
ENST00000680737.1:n.3973+17_3973+20del
ENST00000680759.1:c.3702+17_3702+20del	ENSP00000505848.1:n.3702+17_3702+20del
ENST00000680814.1:c.3702+17_3702+20del	ENSP00000505710.1:n.3702+17_3702+20del
ENST00000680828.1:c.*1274+17_*1274+20del	ENSP00000505249.1:n.*1274+17_*1274+20del
ENST00000680861.1:c.3702+17_3702+20del	ENSP00000505043.1:n.3702+17_3702+20del
ENST00000680927.1:c.3702+17_3702+20del	ENSP00000505473.1:n.3702+17_3702+20del
ENST00000680939.1:n.4044+17_4044+20del
ENST00000681152.1:c.*5_*8del	ENSP00000505388.1:n.*5_*8del
ENST00000681250.1:c.*419+17_*419+20del	ENSP00000505684.1:n.*419+17_*419+20del
ENST00000681256.1:c.*1720+17_*1720+20del	ENSP00000505446.1:n.*1720+17_*1720+20del
ENST00000681279.1:n.4470+17_4470+20del
ENST00000681303.1:c.*5_*8del	ENSP00000505576.1:n.*5_*8del
ENST00000681307.1:n.4815+17_4815+20del
ENST00000681461.1:n.4470+17_4470+20del
ENST00000681495.1:c.1242+17_1242+20del	ENSP00000506085.1:n.1242+17_1242+20del
ENST00000681558.1:c.1380+17_1380+20del	ENSP00000505568.1:n.1380+17_1380+20del
ENST00000681619.1:c.3702+17_3702+20del	ENSP00000505071.1:n.3702+17_3702+20del
ENST00000681716.1:c.*1413+17_*1413+20del	ENSP00000505078.1:n.*1413+17_*1413+20del
ENST00000681758.1:n.4044+17_4044+20del
ENST00000681768.1:c.*1366+17_*1366+20del	ENSP00000506311.1:n.*1366+17_*1366+20del
ENST00000681808.1:c.3702+17_3702+20del	ENSP00000505219.1:n.3702+17_3702+20del
ENST00000264276.10:c.3702+17_3702+20del	ENSP00000264276.6:n.3702+17_3702+20del
ENST00000439495.5:c.1663+17_1663+20del
ENST00000482891.5:n.3859_3862del
ENST00000489440.5:n.523+17_523+20del
NM_020919.3:c.3702+17_3702+20del	NP_065970.2:n.3702+17_3702+20del
XM_005246709.2:c.3702+17_3702+20del	XP_005246766.1:n.3702+17_3702+20del
XM_006712654.1:c.3702+17_3702+20del	XP_006712717.1:n.3702+17_3702+20del
XM_006712655.2:c.1638+17_1638+20del	XP_006712718.1:n.1638+17_1638+20del
XM_011511530.1:c.3363+17_3363+20del	XP_011509832.1:n.3363+17_3363+20del
XM_011511531.1:c.3702+17_3702+20del	XP_011509833.1:n.3702+17_3702+20del
XR_922974.1:n.3837+17_3837+20del
XM_006712654.3:c.3702+17_3702+20del	XP_006712717.1:n.3702+17_3702+20del
XM_006712655.3:c.1638+17_1638+20del	XP_006712718.1:n.1638+17_1638+20del
XM_017004569.2:c.3702+17_3702+20del	XP_016860058.1:n.3702+17_3702+20del
XM_017004570.2:c.3702+17_3702+20del	XP_016860059.1:n.3702+17_3702+20del
XM_017004572.2:c.1320+17_1320+20del	XP_016860061.1:n.1320+17_1320+20del
XM_024453024.1:c.3363+17_3363+20del	XP_024308792.1:n.3363+17_3363+20del
XM_024453025.1:c.1638+17_1638+20del	XP_024308793.1:n.1638+17_1638+20del
XR_001738864.2:n.3837+17_3837+20del
XR_001738865.2:n.3837+17_3837+20del
XR_001738866.2:n.3837+17_3837+20del
XR_001738867.2:n.3837+17_3837+20del
XR_002959320.1:n.2893+17_2893+20del
NM_020919.4:c.3702+17_3702+20del MANE Select	NP_065970.2:n.3702+17_3702+20del