Canonical Allele Identifier: CA63975592
Community Standard Title: NM_020919.4(ALS2):c.4936-120G>T
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201702009C>A , CM000664.2:g.201702009C>A GRCh38
NC_000002.11:g.202566732C>A , CM000664.1:g.202566732C>A GRCh37
NC_000002.10:g.202274977C>A NCBI36
NG_008775.1:g.84164G>T
NG_012654.1:g.1686G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4936-120G>T MANE Select NP_065970.2:n.4936-120G>T
ENST00000264276.11:c.4936-120G>T MANE Select ENSP00000264276.6:n.4936-120G>T
NM_020919.3:c.4936-120G>T NP_065970.2:n.4936-120G>T
ENST00000264276.10:c.4936-120G>T ENSP00000264276.6:n.4936-120G>T
ENST00000439495.5:c.3040-120G>T
ENST00000439495.6:c.*1116-120G>T ENSP00000403832.2:n.*1116-120G>T
ENST00000679409.1:c.*3753G>T ENSP00000506531.1:n.*3753G>T
ENST00000679416.1:n.6440-120G>T
ENST00000679427.1:n.4719G>T
ENST00000679435.1:c.4936-120G>T ENSP00000505218.1:n.4936-120G>T
ENST00000679516.1:c.4936-120G>T ENSP00000505187.1:n.4936-120G>T
ENST00000679618.1:c.*2024-120G>T ENSP00000506274.1:n.*2024-120G>T
ENST00000679630.1:n.6785-120G>T
ENST00000679635.1:n.3198-120G>T
ENST00000679686.1:n.5050-120G>T
ENST00000679701.1:n.7928-120G>T
ENST00000679916.1:c.*1284-120G>T ENSP00000506172.1:n.*1284-120G>T
ENST00000680000.1:c.*2092G>T ENSP00000506173.1:n.*2092G>T
ENST00000680135.1:c.*2897-120G>T ENSP00000506211.1:n.*2897-120G>T
ENST00000680149.1:c.*218-120G>T ENSP00000506497.1:n.*218-120G>T
ENST00000680163.1:c.4936-120G>T ENSP00000505092.1:n.4936-120G>T
ENST00000680174.1:n.5627-120G>T
ENST00000680236.1:c.*1997-120G>T ENSP00000506212.1:n.*1997-120G>T
ENST00000680404.1:n.2563G>T
ENST00000680441.1:n.3494-120G>T
ENST00000680497.1:c.5038-120G>T ENSP00000505954.1:n.5038-120G>T
ENST00000680508.1:c.*92-120G>T ENSP00000505749.1:n.*92-120G>T
ENST00000680569.1:c.*2879-120G>T ENSP00000505522.1:n.*2879-120G>T
ENST00000680634.1:n.1444-120G>T
ENST00000680722.1:n.2736-120G>T
ENST00000680726.1:c.*218-120G>T ENSP00000505505.1:n.*218-120G>T
ENST00000680759.1:c.4768-120G>T ENSP00000505848.1:n.4768-120G>T
ENST00000680814.1:c.4839-871G>T ENSP00000505710.1:n.4839-871G>T
ENST00000680828.1:c.*2630-120G>T ENSP00000505249.1:n.*2630-120G>T
ENST00000680861.1:c.4936-120G>T ENSP00000505043.1:n.4936-120G>T
ENST00000680927.1:c.*1116-120G>T ENSP00000505473.1:n.*1116-120G>T
ENST00000680939.1:n.8989G>T
ENST00000681250.1:c.*1653-120G>T ENSP00000505684.1:n.*1653-120G>T
ENST00000681256.1:c.*2951-120G>T ENSP00000505446.1:n.*2951-120G>T
ENST00000681279.1:n.5802-120G>T
ENST00000681307.1:n.6049-120G>T
ENST00000681461.1:n.5704-120G>T
ENST00000681495.1:c.2473-120G>T ENSP00000506085.1:n.2473-120G>T
ENST00000681558.1:c.2614-120G>T ENSP00000505568.1:n.2614-120G>T
ENST00000681619.1:c.4933-120G>T ENSP00000505071.1:n.4933-120G>T
ENST00000681663.1:n.1842-120G>T
ENST00000681692.1:n.2896-120G>T
ENST00000681716.1:c.*2790-120G>T ENSP00000505078.1:n.*2790-120G>T
ENST00000681768.1:c.*2600-120G>T ENSP00000506311.1:n.*2600-120G>T
ENST00000681808.1:c.4759-120G>T ENSP00000505219.1:n.4759-120G>T
XM_005246709.2:c.4933-120G>T XP_005246766.1:n.4933-120G>T
XM_006712654.1:c.4936-120G>T XP_006712717.1:n.4936-120G>T
XM_006712654.3:c.4936-120G>T XP_006712717.1:n.4936-120G>T
XM_006712655.2:c.2872-120G>T XP_006712718.1:n.2872-120G>T
XM_006712655.3:c.2872-120G>T XP_006712718.1:n.2872-120G>T
XM_011511530.1:c.4597-120G>T XP_011509832.1:n.4597-120G>T
XM_017004569.2:c.4933-120G>T XP_016860058.1:n.4933-120G>T
XM_017004572.2:c.2554-120G>T XP_016860061.1:n.2554-120G>T
XM_024453024.1:c.4597-120G>T XP_024308792.1:n.4597-120G>T
XM_024453025.1:c.2869-120G>T XP_024308793.1:n.2869-120G>T
XR_001738864.2:n.5051-120G>T
XR_001738865.2:n.5048-120G>T
XR_001738866.2:n.5214-120G>T
XR_001738867.2:n.5211-120G>T
XR_002959320.1:n.4107-120G>T
XR_922974.1:n.5214-120G>T