Canonical Allele Identifier: CA2057829

Gene: ALS2

Linked Data

• dbSNP Id: rs752212466
• ExAC: 2:202588068 G / T
• gnomAD v2: 2-202588068-G-T
• gnomAD v3: 2-201723345-G-T
• gnomAD v4: 2-201723345-G-T
• MyVariant Identifiers: chr2:g.202588068G>T (hg19) ; chr2:g.201723345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723345G>T , CM000664.2:g.201723345G>T	GRCh38
NC_000002.11:g.202588068G>T , CM000664.1:g.202588068G>T	GRCh37
NC_000002.10:g.202296313G>T	NCBI36
NG_008775.1:g.62828C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3609C>A MANE Select	ENSP00000264276.6:p.His1203Gln
ENST00000439495.6:c.1287C>A	ENSP00000403832.2:p.His429Gln
ENST00000482891.6:n.4377C>A
ENST00000494017.6:n.1341C>A
ENST00000679409.1:c.1287C>A	ENSP00000506531.1:p.His429Gln
ENST00000679416.1:n.5113C>A
ENST00000679435.1:c.3609C>A	ENSP00000505218.1:p.His1203Gln
ENST00000679516.1:c.3609C>A	ENSP00000505187.1:p.His1203Gln
ENST00000679618.1:c.*697C>A	ENSP00000506274.1:n.*697C>A
ENST00000679630.1:n.5458C>A
ENST00000679686.1:n.3723C>A
ENST00000679701.1:n.6601C>A
ENST00000679916.1:c.3609C>A	ENSP00000506172.1:p.His1203Gln
ENST00000680000.1:c.3609C>A	ENSP00000506173.1:p.His1203Gln
ENST00000680135.1:c.*1573C>A	ENSP00000506211.1:n.*1573C>A
ENST00000680149.1:c.3609C>A	ENSP00000506497.1:p.His1203Gln
ENST00000680163.1:c.3609C>A	ENSP00000505092.1:p.His1203Gln
ENST00000680174.1:n.4300C>A
ENST00000680236.1:c.*670C>A	ENSP00000506212.1:n.*670C>A
ENST00000680497.1:c.3711C>A	ENSP00000505954.1:p.His1237Gln
ENST00000680508.1:c.3609C>A	ENSP00000505749.1:p.His1203Gln
ENST00000680569.1:c.*1320C>A	ENSP00000505522.1:n.*1320C>A
ENST00000680630.1:n.4041C>A
ENST00000680634.1:n.21-2856C>A
ENST00000680722.1:n.1409C>A
ENST00000680723.1:n.4392C>A
ENST00000680726.1:c.3609C>A	ENSP00000505505.1:p.His1203Gln
ENST00000680737.1:n.3880C>A
ENST00000680759.1:c.3609C>A	ENSP00000505848.1:p.His1203Gln
ENST00000680814.1:c.3609C>A	ENSP00000505710.1:p.His1203Gln
ENST00000680828.1:c.*1181C>A	ENSP00000505249.1:n.*1181C>A
ENST00000680861.1:c.3609C>A	ENSP00000505043.1:p.His1203Gln
ENST00000680927.1:c.3609C>A	ENSP00000505473.1:p.His1203Gln
ENST00000680939.1:n.3951C>A
ENST00000681152.1:c.3609C>A	ENSP00000505388.1:p.His1203Gln
ENST00000681250.1:c.*326C>A	ENSP00000505684.1:n.*326C>A
ENST00000681256.1:c.*1627C>A	ENSP00000505446.1:n.*1627C>A
ENST00000681279.1:n.4377C>A
ENST00000681303.1:c.3609C>A	ENSP00000505576.1:p.His1203Gln
ENST00000681307.1:n.4722C>A
ENST00000681461.1:n.4377C>A
ENST00000681495.1:c.1149C>A	ENSP00000506085.1:p.His383Gln
ENST00000681558.1:c.1287C>A	ENSP00000505568.1:p.His429Gln
ENST00000681619.1:c.3609C>A	ENSP00000505071.1:p.His1203Gln
ENST00000681716.1:c.*1320C>A	ENSP00000505078.1:n.*1320C>A
ENST00000681758.1:n.3951C>A
ENST00000681768.1:c.*1273C>A	ENSP00000506311.1:n.*1273C>A
ENST00000681808.1:c.3609C>A	ENSP00000505219.1:p.His1203Gln
ENST00000264276.10:c.3609C>A	ENSP00000264276.6:p.His1203Gln
ENST00000439495.5:c.1570C>A
ENST00000482891.5:n.3749C>A
ENST00000489440.5:n.430C>A
NM_020919.3:c.3609C>A	NP_065970.2:p.His1203Gln
XM_005246709.2:c.3609C>A	XP_005246766.1:p.His1203Gln
XM_006712654.1:c.3609C>A	XP_006712717.1:p.His1203Gln
XM_006712655.2:c.1545C>A	XP_006712718.1:p.His515Gln
XM_011511530.1:c.3270C>A	XP_011509832.1:p.His1090Gln
XM_011511531.1:c.3609C>A	XP_011509833.1:p.His1203Gln
XR_922974.1:n.3744C>A
XM_006712654.3:c.3609C>A	XP_006712717.1:p.His1203Gln
XM_006712655.3:c.1545C>A	XP_006712718.1:p.His515Gln
XM_017004569.2:c.3609C>A	XP_016860058.1:p.His1203Gln
XM_017004570.2:c.3609C>A	XP_016860059.1:p.His1203Gln
XM_017004572.2:c.1227C>A	XP_016860061.1:p.His409Gln
XM_024453024.1:c.3270C>A	XP_024308792.1:p.His1090Gln
XM_024453025.1:c.1545C>A	XP_024308793.1:p.His515Gln
XR_001738864.2:n.3744C>A
XR_001738865.2:n.3744C>A
XR_001738866.2:n.3744C>A
XR_001738867.2:n.3744C>A
XR_002959320.1:n.2800C>A
NM_020919.4:c.3609C>A MANE Select	NP_065970.2:p.His1203Gln