Canonical Allele Identifier: CA2057847

Gene: ALS2

Linked Data

• ClinVar Variation Id: 645923
• ClinVar RCV Id: RCV001375960 ; RCV002051896
• dbSNP Id: rs757972700
• ExAC: 2:202588157 T / A
• gnomAD v2: 2-202588157-T-A
• gnomAD v3: 2-201723434-T-A
• gnomAD v4: 2-201723434-T-A
• MyVariant Identifiers: chr2:g.202588157T>A (hg19) ; chr2:g.201723434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723434T>A , CM000664.2:g.201723434T>A	GRCh38
NC_000002.11:g.202588157T>A , CM000664.1:g.202588157T>A	GRCh37
NC_000002.10:g.202296402T>A	NCBI36
NG_008775.1:g.62739A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.3520A>T MANE Select	ENSP00000264276.6:p.Lys1174Ter
ENST00000439495.6:c.1198A>T	ENSP00000403832.2:p.Lys400Ter
ENST00000482891.6:n.4288A>T
ENST00000494017.6:n.1252A>T
ENST00000679409.1:c.1198A>T	ENSP00000506531.1:p.Lys400Ter
ENST00000679416.1:n.5024A>T
ENST00000679435.1:c.3520A>T	ENSP00000505218.1:p.Lys1174Ter
ENST00000679516.1:c.3520A>T	ENSP00000505187.1:p.Lys1174Ter
ENST00000679618.1:c.*608A>T	ENSP00000506274.1:n.*608A>T
ENST00000679630.1:n.5369A>T
ENST00000679686.1:n.3634A>T
ENST00000679701.1:n.6512A>T
ENST00000679916.1:c.3520A>T	ENSP00000506172.1:p.Lys1174Ter
ENST00000680000.1:c.3520A>T	ENSP00000506173.1:p.Lys1174Ter
ENST00000680135.1:c.*1484A>T	ENSP00000506211.1:n.*1484A>T
ENST00000680149.1:c.3520A>T	ENSP00000506497.1:p.Lys1174Ter
ENST00000680163.1:c.3520A>T	ENSP00000505092.1:p.Lys1174Ter
ENST00000680174.1:n.4211A>T
ENST00000680236.1:c.*581A>T	ENSP00000506212.1:n.*581A>T
ENST00000680497.1:c.3622A>T	ENSP00000505954.1:p.Lys1208Ter
ENST00000680508.1:c.3520A>T	ENSP00000505749.1:p.Lys1174Ter
ENST00000680569.1:c.*1231A>T	ENSP00000505522.1:n.*1231A>T
ENST00000680630.1:n.3952A>T
ENST00000680634.1:n.21-2945A>T
ENST00000680722.1:n.1320A>T
ENST00000680723.1:n.4303A>T
ENST00000680726.1:c.3520A>T	ENSP00000505505.1:p.Lys1174Ter
ENST00000680737.1:n.3791A>T
ENST00000680759.1:c.3520A>T	ENSP00000505848.1:p.Lys1174Ter
ENST00000680814.1:c.3520A>T	ENSP00000505710.1:p.Lys1174Ter
ENST00000680828.1:c.*1092A>T	ENSP00000505249.1:n.*1092A>T
ENST00000680861.1:c.3520A>T	ENSP00000505043.1:p.Lys1174Ter
ENST00000680927.1:c.3520A>T	ENSP00000505473.1:p.Lys1174Ter
ENST00000680939.1:n.3862A>T
ENST00000681152.1:c.3520A>T	ENSP00000505388.1:p.Lys1174Ter
ENST00000681250.1:c.*237A>T	ENSP00000505684.1:n.*237A>T
ENST00000681256.1:c.*1538A>T	ENSP00000505446.1:n.*1538A>T
ENST00000681279.1:n.4288A>T
ENST00000681303.1:c.3520A>T	ENSP00000505576.1:p.Lys1174Ter
ENST00000681307.1:n.4633A>T
ENST00000681461.1:n.4288A>T
ENST00000681495.1:c.1060A>T	ENSP00000506085.1:p.Lys354Ter
ENST00000681558.1:c.1198A>T	ENSP00000505568.1:p.Lys400Ter
ENST00000681619.1:c.3520A>T	ENSP00000505071.1:p.Lys1174Ter
ENST00000681716.1:c.*1231A>T	ENSP00000505078.1:n.*1231A>T
ENST00000681758.1:n.3862A>T
ENST00000681768.1:c.*1184A>T	ENSP00000506311.1:n.*1184A>T
ENST00000681808.1:c.3520A>T	ENSP00000505219.1:p.Lys1174Ter
ENST00000264276.10:c.3520A>T	ENSP00000264276.6:p.Lys1174Ter
ENST00000439495.5:c.1481A>T
ENST00000482891.5:n.3660A>T
ENST00000489440.5:n.341A>T
NM_020919.3:c.3520A>T	NP_065970.2:p.Lys1174Ter
XM_005246709.2:c.3520A>T	XP_005246766.1:p.Lys1174Ter
XM_006712654.1:c.3520A>T	XP_006712717.1:p.Lys1174Ter
XM_006712655.2:c.1456A>T	XP_006712718.1:p.Lys486Ter
XM_011511530.1:c.3181A>T	XP_011509832.1:p.Lys1061Ter
XM_011511531.1:c.3520A>T	XP_011509833.1:p.Lys1174Ter
XR_922974.1:n.3655A>T
XM_006712654.3:c.3520A>T	XP_006712717.1:p.Lys1174Ter
XM_006712655.3:c.1456A>T	XP_006712718.1:p.Lys486Ter
XM_017004569.2:c.3520A>T	XP_016860058.1:p.Lys1174Ter
XM_017004570.2:c.3520A>T	XP_016860059.1:p.Lys1174Ter
XM_017004572.2:c.1138A>T	XP_016860061.1:p.Lys380Ter
XM_024453024.1:c.3181A>T	XP_024308792.1:p.Lys1061Ter
XM_024453025.1:c.1456A>T	XP_024308793.1:p.Lys486Ter
XR_001738864.2:n.3655A>T
XR_001738865.2:n.3655A>T
XR_001738866.2:n.3655A>T
XR_001738867.2:n.3655A>T
XR_002959320.1:n.2711A>T
NM_020919.4:c.3520A>T MANE Select	NP_065970.2:p.Lys1174Ter