Canonical Allele Identifier: CA350320243

Gene: ALS2

Linked Data

• dbSNP Id: rs935828317
• gnomAD v3: 2-201704145-C-A
• gnomAD v4: 2-201704145-C-A
• MyVariant Identifiers: chr2:g.202568868C>A (hg19) ; chr2:g.201704145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704145C>A , CM000664.2:g.201704145C>A	GRCh38
NC_000002.11:g.202568868C>A , CM000664.1:g.202568868C>A	GRCh37
NC_000002.10:g.202277113C>A	NCBI36
NG_008775.1:g.82028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4912G>T MANE Select	ENSP00000264276.6:p.Gly1638Cys
ENST00000439495.6:c.*1092G>T	ENSP00000403832.2:n.*1092G>T
ENST00000679409.1:c.*1617G>T	ENSP00000506531.1:n.*1617G>T
ENST00000679416.1:n.6416G>T
ENST00000679427.1:n.2583G>T
ENST00000679435.1:c.4912G>T	ENSP00000505218.1:p.Gly1638Cys
ENST00000679516.1:c.4912G>T	ENSP00000505187.1:p.Gly1638Cys
ENST00000679618.1:c.*2000G>T	ENSP00000506274.1:n.*2000G>T
ENST00000679630.1:n.6761G>T
ENST00000679635.1:n.3174G>T
ENST00000679686.1:n.5026G>T
ENST00000679701.1:n.7904G>T
ENST00000679916.1:c.*1260G>T	ENSP00000506172.1:n.*1260G>T
ENST00000680000.1:c.4912G>T	ENSP00000506173.1:p.Gly1638Cys
ENST00000680135.1:c.*2873G>T	ENSP00000506211.1:n.*2873G>T
ENST00000680149.1:c.*194G>T	ENSP00000506497.1:n.*194G>T
ENST00000680163.1:c.4912G>T	ENSP00000505092.1:p.Gly1638Cys
ENST00000680174.1:n.5603G>T
ENST00000680236.1:c.*1973G>T	ENSP00000506212.1:n.*1973G>T
ENST00000680404.1:n.427G>T
ENST00000680441.1:n.3470G>T
ENST00000680497.1:c.5014G>T	ENSP00000505954.1:p.Gly1672Cys
ENST00000680508.1:c.*68G>T	ENSP00000505749.1:n.*68G>T
ENST00000680569.1:c.*2855G>T	ENSP00000505522.1:n.*2855G>T
ENST00000680634.1:n.1420G>T
ENST00000680722.1:n.2712G>T
ENST00000680726.1:c.*194G>T	ENSP00000505505.1:n.*194G>T
ENST00000680759.1:c.4744G>T	ENSP00000505848.1:p.Gly1582Cys
ENST00000680814.1:c.4838+309G>T	ENSP00000505710.1:n.4838+309G>T
ENST00000680828.1:c.*2606G>T	ENSP00000505249.1:n.*2606G>T
ENST00000680861.1:c.4912G>T	ENSP00000505043.1:p.Gly1638Cys
ENST00000680927.1:c.*1092G>T	ENSP00000505473.1:n.*1092G>T
ENST00000680939.1:n.6853G>T
ENST00000681250.1:c.*1629G>T	ENSP00000505684.1:n.*1629G>T
ENST00000681256.1:c.*2927G>T	ENSP00000505446.1:n.*2927G>T
ENST00000681279.1:n.5778G>T
ENST00000681307.1:n.6025G>T
ENST00000681461.1:n.5680G>T
ENST00000681495.1:c.2449G>T	ENSP00000506085.1:p.Gly817Cys
ENST00000681558.1:c.2590G>T	ENSP00000505568.1:p.Gly864Cys
ENST00000681619.1:c.4909G>T	ENSP00000505071.1:p.Gly1637Cys
ENST00000681663.1:n.1818G>T
ENST00000681692.1:n.2872G>T
ENST00000681716.1:c.*2766G>T	ENSP00000505078.1:n.*2766G>T
ENST00000681768.1:c.*2576G>T	ENSP00000506311.1:n.*2576G>T
ENST00000681808.1:c.4735G>T	ENSP00000505219.1:p.Gly1579Cys
ENST00000264276.10:c.4912G>T	ENSP00000264276.6:p.Gly1638Cys
ENST00000439495.5:c.3016G>T
NM_020919.3:c.4912G>T	NP_065970.2:p.Gly1638Cys
XM_005246709.2:c.4909G>T	XP_005246766.1:p.Gly1637Cys
XM_006712654.1:c.4912G>T	XP_006712717.1:p.Gly1638Cys
XM_006712655.2:c.2848G>T	XP_006712718.1:p.Gly950Cys
XM_011511530.1:c.4573G>T	XP_011509832.1:p.Gly1525Cys
XR_922974.1:n.5190G>T
XM_006712654.3:c.4912G>T	XP_006712717.1:p.Gly1638Cys
XM_006712655.3:c.2848G>T	XP_006712718.1:p.Gly950Cys
XM_017004569.2:c.4909G>T	XP_016860058.1:p.Gly1637Cys
XM_017004572.2:c.2530G>T	XP_016860061.1:p.Gly844Cys
XM_024453024.1:c.4573G>T	XP_024308792.1:p.Gly1525Cys
XM_024453025.1:c.2845G>T	XP_024308793.1:p.Gly949Cys
XR_001738864.2:n.5027G>T
XR_001738865.2:n.5024G>T
XR_001738866.2:n.5190G>T
XR_001738867.2:n.5187G>T
XR_002959320.1:n.4083G>T
NM_020919.4:c.4912G>T MANE Select	NP_065970.2:p.Gly1638Cys