Canonical Allele Identifier: CA350320141

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568847T>C (hg19) ; chr2:g.201704124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704124T>C , CM000664.2:g.201704124T>C	GRCh38
NC_000002.11:g.202568847T>C , CM000664.1:g.202568847T>C	GRCh37
NC_000002.10:g.202277092T>C	NCBI36
NG_008775.1:g.82049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4933A>G MANE Select	ENSP00000264276.6:p.Lys1645Glu
ENST00000439495.6:c.*1113A>G	ENSP00000403832.2:n.*1113A>G
ENST00000679409.1:c.*1638A>G	ENSP00000506531.1:n.*1638A>G
ENST00000679416.1:n.6437A>G
ENST00000679427.1:n.2604A>G
ENST00000679435.1:c.4933A>G	ENSP00000505218.1:p.Lys1645Glu
ENST00000679516.1:c.4933A>G	ENSP00000505187.1:p.Lys1645Glu
ENST00000679618.1:c.*2021A>G	ENSP00000506274.1:n.*2021A>G
ENST00000679630.1:n.6782A>G
ENST00000679635.1:n.3195A>G
ENST00000679686.1:n.5047A>G
ENST00000679701.1:n.7925A>G
ENST00000679916.1:c.*1281A>G	ENSP00000506172.1:n.*1281A>G
ENST00000680000.1:c.4933A>G	ENSP00000506173.1:p.Lys1645Glu
ENST00000680135.1:c.*2894A>G	ENSP00000506211.1:n.*2894A>G
ENST00000680149.1:c.*215A>G	ENSP00000506497.1:n.*215A>G
ENST00000680163.1:c.4933A>G	ENSP00000505092.1:p.Lys1645Glu
ENST00000680174.1:n.5624A>G
ENST00000680236.1:c.*1994A>G	ENSP00000506212.1:n.*1994A>G
ENST00000680404.1:n.448A>G
ENST00000680441.1:n.3491A>G
ENST00000680497.1:c.5035A>G	ENSP00000505954.1:p.Lys1679Glu
ENST00000680508.1:c.*89A>G	ENSP00000505749.1:n.*89A>G
ENST00000680569.1:c.*2876A>G	ENSP00000505522.1:n.*2876A>G
ENST00000680634.1:n.1441A>G
ENST00000680722.1:n.2733A>G
ENST00000680726.1:c.*215A>G	ENSP00000505505.1:n.*215A>G
ENST00000680759.1:c.4765A>G	ENSP00000505848.1:p.Lys1589Glu
ENST00000680814.1:c.4838+330A>G	ENSP00000505710.1:n.4838+330A>G
ENST00000680828.1:c.*2627A>G	ENSP00000505249.1:n.*2627A>G
ENST00000680861.1:c.4933A>G	ENSP00000505043.1:p.Lys1645Glu
ENST00000680927.1:c.*1113A>G	ENSP00000505473.1:n.*1113A>G
ENST00000680939.1:n.6874A>G
ENST00000681250.1:c.*1650A>G	ENSP00000505684.1:n.*1650A>G
ENST00000681256.1:c.*2948A>G	ENSP00000505446.1:n.*2948A>G
ENST00000681279.1:n.5799A>G
ENST00000681307.1:n.6046A>G
ENST00000681461.1:n.5701A>G
ENST00000681495.1:c.2470A>G	ENSP00000506085.1:p.Lys824Glu
ENST00000681558.1:c.2611A>G	ENSP00000505568.1:p.Lys871Glu
ENST00000681619.1:c.4930A>G	ENSP00000505071.1:p.Lys1644Glu
ENST00000681663.1:n.1839A>G
ENST00000681692.1:n.2893A>G
ENST00000681716.1:c.*2787A>G	ENSP00000505078.1:n.*2787A>G
ENST00000681768.1:c.*2597A>G	ENSP00000506311.1:n.*2597A>G
ENST00000681808.1:c.4756A>G	ENSP00000505219.1:p.Lys1586Glu
ENST00000264276.10:c.4933A>G	ENSP00000264276.6:p.Lys1645Glu
ENST00000439495.5:c.3037A>G
NM_020919.3:c.4933A>G	NP_065970.2:p.Lys1645Glu
XM_005246709.2:c.4930A>G	XP_005246766.1:p.Lys1644Glu
XM_006712654.1:c.4933A>G	XP_006712717.1:p.Lys1645Glu
XM_006712655.2:c.2869A>G	XP_006712718.1:p.Lys957Glu
XM_011511530.1:c.4594A>G	XP_011509832.1:p.Lys1532Glu
XR_922974.1:n.5211A>G
XM_006712654.3:c.4933A>G	XP_006712717.1:p.Lys1645Glu
XM_006712655.3:c.2869A>G	XP_006712718.1:p.Lys957Glu
XM_017004569.2:c.4930A>G	XP_016860058.1:p.Lys1644Glu
XM_017004572.2:c.2551A>G	XP_016860061.1:p.Lys851Glu
XM_024453024.1:c.4594A>G	XP_024308792.1:p.Lys1532Glu
XM_024453025.1:c.2866A>G	XP_024308793.1:p.Lys956Glu
XR_001738864.2:n.5048A>G
XR_001738865.2:n.5045A>G
XR_001738866.2:n.5211A>G
XR_001738867.2:n.5208A>G
XR_002959320.1:n.4104A>G
NM_020919.4:c.4933A>G MANE Select	NP_065970.2:p.Lys1645Glu