Canonical Allele Identifier: CA350319887
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201724442A>C , CM000664.2:g.201724442A>C GRCh38
NC_000002.11:g.202589165A>C , CM000664.1:g.202589165A>C GRCh37
NC_000002.10:g.202297410A>C NCBI36
NG_008775.1:g.61731T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.3365T>G MANE Select ENSP00000264276.6:p.Val1122Gly
ENST00000439495.6:c.1043T>G ENSP00000403832.2:p.Val348Gly
ENST00000482891.6:n.4133T>G
ENST00000494017.6:n.1097T>G
ENST00000679409.1:c.1043T>G ENSP00000506531.1:p.Val348Gly
ENST00000679416.1:n.4869T>G
ENST00000679435.1:c.3365T>G ENSP00000505218.1:p.Val1122Gly
ENST00000679516.1:c.3365T>G ENSP00000505187.1:p.Val1122Gly
ENST00000679618.1:c.*453T>G ENSP00000506274.1:n.*453T>G
ENST00000679630.1:n.5214T>G
ENST00000679686.1:n.3479T>G
ENST00000679701.1:n.6357T>G
ENST00000679916.1:c.3365T>G ENSP00000506172.1:p.Val1122Gly
ENST00000680000.1:c.3365T>G ENSP00000506173.1:p.Val1122Gly
ENST00000680135.1:c.*1329T>G ENSP00000506211.1:n.*1329T>G
ENST00000680149.1:c.3365T>G ENSP00000506497.1:p.Val1122Gly
ENST00000680163.1:c.3365T>G ENSP00000505092.1:p.Val1122Gly
ENST00000680174.1:n.4056T>G
ENST00000680236.1:c.*426T>G ENSP00000506212.1:n.*426T>G
ENST00000680497.1:c.3467T>G ENSP00000505954.1:p.Val1156Gly
ENST00000680508.1:c.3365T>G ENSP00000505749.1:p.Val1122Gly
ENST00000680569.1:c.*1076T>G ENSP00000505522.1:n.*1076T>G
ENST00000680630.1:n.3797T>G
ENST00000680634.1:n.21-3953T>G
ENST00000680722.1:n.1165T>G
ENST00000680723.1:n.4148T>G
ENST00000680726.1:c.3365T>G ENSP00000505505.1:p.Val1122Gly
ENST00000680737.1:n.3636T>G
ENST00000680759.1:c.3365T>G ENSP00000505848.1:p.Val1122Gly
ENST00000680814.1:c.3365T>G ENSP00000505710.1:p.Val1122Gly
ENST00000680828.1:c.*937T>G ENSP00000505249.1:n.*937T>G
ENST00000680861.1:c.3365T>G ENSP00000505043.1:p.Val1122Gly
ENST00000680927.1:c.3365T>G ENSP00000505473.1:p.Val1122Gly
ENST00000680939.1:n.3707T>G
ENST00000681152.1:c.3365T>G ENSP00000505388.1:p.Val1122Gly
ENST00000681250.1:c.*82T>G ENSP00000505684.1:n.*82T>G
ENST00000681256.1:c.*1383T>G ENSP00000505446.1:n.*1383T>G
ENST00000681279.1:n.4133T>G
ENST00000681303.1:c.3365T>G ENSP00000505576.1:p.Val1122Gly
ENST00000681307.1:n.4478T>G
ENST00000681461.1:n.4133T>G
ENST00000681495.1:c.905T>G ENSP00000506085.1:p.Val302Gly
ENST00000681558.1:c.1043T>G ENSP00000505568.1:p.Val348Gly
ENST00000681619.1:c.3365T>G ENSP00000505071.1:p.Val1122Gly
ENST00000681716.1:c.*1076T>G ENSP00000505078.1:n.*1076T>G
ENST00000681758.1:n.3707T>G
ENST00000681768.1:c.*1029T>G ENSP00000506311.1:n.*1029T>G
ENST00000681808.1:c.3365T>G ENSP00000505219.1:p.Val1122Gly
ENST00000264276.10:c.3365T>G ENSP00000264276.6:p.Val1122Gly
ENST00000439495.5:c.1326T>G
ENST00000482891.5:n.3505T>G
ENST00000489440.5:n.186T>G
NM_020919.3:c.3365T>G NP_065970.2:p.Val1122Gly
XM_005246709.2:c.3365T>G XP_005246766.1:p.Val1122Gly
XM_006712654.1:c.3365T>G XP_006712717.1:p.Val1122Gly
XM_006712655.2:c.1301T>G XP_006712718.1:p.Val434Gly
XM_011511530.1:c.3026T>G XP_011509832.1:p.Val1009Gly
XM_011511531.1:c.3365T>G XP_011509833.1:p.Val1122Gly
XR_922974.1:n.3500T>G
XM_006712654.3:c.3365T>G XP_006712717.1:p.Val1122Gly
XM_006712655.3:c.1301T>G XP_006712718.1:p.Val434Gly
XM_017004569.2:c.3365T>G XP_016860058.1:p.Val1122Gly
XM_017004570.2:c.3365T>G XP_016860059.1:p.Val1122Gly
XM_017004572.2:c.983T>G XP_016860061.1:p.Val328Gly
XM_024453024.1:c.3026T>G XP_024308792.1:p.Val1009Gly
XM_024453025.1:c.1301T>G XP_024308793.1:p.Val434Gly
XR_001738864.2:n.3500T>G
XR_001738865.2:n.3500T>G
XR_001738866.2:n.3500T>G
XR_001738867.2:n.3500T>G
XR_002959320.1:n.2556T>G
NM_020919.4:c.3365T>G MANE Select NP_065970.2:p.Val1122Gly