Canonical Allele Identifier: CA763341869

Gene: ALS2

Linked Data

• dbSNP Id: rs1243824899
• gnomAD v3: 2-201723146-T-TACA
• gnomAD v4: 2-201723146-T-TACA
• MyVariant Identifiers: chr2:g.202587869_202587870insACA (hg19) ; chr2:g.201723146_201723147insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723150_201723152dup , CM000664.2:g.201723150_201723152dup	GRCh38
NC_000002.11:g.202587873_202587875dup , CM000664.1:g.202587873_202587875dup	GRCh37
NC_000002.10:g.202296118_202296120dup	NCBI36
NG_008775.1:g.63024_63026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3625-29_3625-27dup MANE Select	ENSP00000264276.6:n.3625-29_3625-27dup
ENST00000439495.6:c.1303-29_1303-27dup	ENSP00000403832.2:n.1303-29_1303-27dup
ENST00000482891.6:n.4393-29_4393-27dup
ENST00000494017.6:n.1357-29_1357-27dup
ENST00000679409.1:c.1303-29_1303-27dup	ENSP00000506531.1:n.1303-29_1303-27dup
ENST00000679416.1:n.5129-29_5129-27dup
ENST00000679435.1:c.3625-29_3625-27dup	ENSP00000505218.1:n.3625-29_3625-27dup
ENST00000679516.1:c.3625-29_3625-27dup	ENSP00000505187.1:n.3625-29_3625-27dup
ENST00000679618.1:c.*713-29_*713-27dup	ENSP00000506274.1:n.*713-29_*713-27dup
ENST00000679630.1:n.5474-29_5474-27dup
ENST00000679686.1:n.3739-29_3739-27dup
ENST00000679701.1:n.6617-29_6617-27dup
ENST00000679916.1:c.3625-29_3625-27dup	ENSP00000506172.1:n.3625-29_3625-27dup
ENST00000680000.1:c.3625-29_3625-27dup	ENSP00000506173.1:n.3625-29_3625-27dup
ENST00000680135.1:c.*1589-29_*1589-27dup	ENSP00000506211.1:n.*1589-29_*1589-27dup
ENST00000680149.1:c.3625-29_3625-27dup	ENSP00000506497.1:n.3625-29_3625-27dup
ENST00000680163.1:c.3625-29_3625-27dup	ENSP00000505092.1:n.3625-29_3625-27dup
ENST00000680174.1:n.4316-29_4316-27dup
ENST00000680236.1:c.*686-29_*686-27dup	ENSP00000506212.1:n.*686-29_*686-27dup
ENST00000680497.1:c.3727-29_3727-27dup	ENSP00000505954.1:n.3727-29_3727-27dup
ENST00000680508.1:c.3625-29_3625-27dup	ENSP00000505749.1:n.3625-29_3625-27dup
ENST00000680569.1:c.*1336-29_*1336-27dup	ENSP00000505522.1:n.*1336-29_*1336-27dup
ENST00000680630.1:n.4057-29_4057-27dup
ENST00000680634.1:n.21-2660_21-2658dup
ENST00000680722.1:n.1425-29_1425-27dup
ENST00000680723.1:n.4408-29_4408-27dup
ENST00000680726.1:c.3625-29_3625-27dup	ENSP00000505505.1:n.3625-29_3625-27dup
ENST00000680737.1:n.3896-29_3896-27dup
ENST00000680759.1:c.3625-29_3625-27dup	ENSP00000505848.1:n.3625-29_3625-27dup
ENST00000680814.1:c.3625-29_3625-27dup	ENSP00000505710.1:n.3625-29_3625-27dup
ENST00000680828.1:c.*1197-29_*1197-27dup	ENSP00000505249.1:n.*1197-29_*1197-27dup
ENST00000680861.1:c.3625-29_3625-27dup	ENSP00000505043.1:n.3625-29_3625-27dup
ENST00000680927.1:c.3625-29_3625-27dup	ENSP00000505473.1:n.3625-29_3625-27dup
ENST00000680939.1:n.3967-29_3967-27dup
ENST00000681152.1:c.3625-29_3625-27dup	ENSP00000505388.1:n.3625-29_3625-27dup
ENST00000681250.1:c.*342-29_*342-27dup	ENSP00000505684.1:n.*342-29_*342-27dup
ENST00000681256.1:c.*1643-29_*1643-27dup	ENSP00000505446.1:n.*1643-29_*1643-27dup
ENST00000681279.1:n.4393-29_4393-27dup
ENST00000681303.1:c.3625-29_3625-27dup	ENSP00000505576.1:n.3625-29_3625-27dup
ENST00000681307.1:n.4738-29_4738-27dup
ENST00000681461.1:n.4393-29_4393-27dup
ENST00000681495.1:c.1165-29_1165-27dup	ENSP00000506085.1:n.1165-29_1165-27dup
ENST00000681558.1:c.1303-29_1303-27dup	ENSP00000505568.1:n.1303-29_1303-27dup
ENST00000681619.1:c.3625-29_3625-27dup	ENSP00000505071.1:n.3625-29_3625-27dup
ENST00000681716.1:c.*1336-29_*1336-27dup	ENSP00000505078.1:n.*1336-29_*1336-27dup
ENST00000681758.1:n.3967-29_3967-27dup
ENST00000681768.1:c.*1289-29_*1289-27dup	ENSP00000506311.1:n.*1289-29_*1289-27dup
ENST00000681808.1:c.3625-29_3625-27dup	ENSP00000505219.1:n.3625-29_3625-27dup
ENST00000264276.10:c.3625-29_3625-27dup	ENSP00000264276.6:n.3625-29_3625-27dup
ENST00000439495.5:c.1586-29_1586-27dup
ENST00000482891.5:n.3765-29_3765-27dup
ENST00000489440.5:n.446-29_446-27dup
NM_020919.3:c.3625-29_3625-27dup	NP_065970.2:n.3625-29_3625-27dup
XM_005246709.2:c.3625-29_3625-27dup	XP_005246766.1:n.3625-29_3625-27dup
XM_006712654.1:c.3625-29_3625-27dup	XP_006712717.1:n.3625-29_3625-27dup
XM_006712655.2:c.1561-29_1561-27dup	XP_006712718.1:n.1561-29_1561-27dup
XM_011511530.1:c.3286-29_3286-27dup	XP_011509832.1:n.3286-29_3286-27dup
XM_011511531.1:c.3625-29_3625-27dup	XP_011509833.1:n.3625-29_3625-27dup
XR_922974.1:n.3760-29_3760-27dup
XM_006712654.3:c.3625-29_3625-27dup	XP_006712717.1:n.3625-29_3625-27dup
XM_006712655.3:c.1561-29_1561-27dup	XP_006712718.1:n.1561-29_1561-27dup
XM_017004569.2:c.3625-29_3625-27dup	XP_016860058.1:n.3625-29_3625-27dup
XM_017004570.2:c.3625-29_3625-27dup	XP_016860059.1:n.3625-29_3625-27dup
XM_017004572.2:c.1243-29_1243-27dup	XP_016860061.1:n.1243-29_1243-27dup
XM_024453024.1:c.3286-29_3286-27dup	XP_024308792.1:n.3286-29_3286-27dup
XM_024453025.1:c.1561-29_1561-27dup	XP_024308793.1:n.1561-29_1561-27dup
XR_001738864.2:n.3760-29_3760-27dup
XR_001738865.2:n.3760-29_3760-27dup
XR_001738866.2:n.3760-29_3760-27dup
XR_001738867.2:n.3760-29_3760-27dup
XR_002959320.1:n.2816-29_2816-27dup
NM_020919.4:c.3625-29_3625-27dup MANE Select	NP_065970.2:n.3625-29_3625-27dup