Canonical Allele Identifier: CA350321784
Community Standard Title: NM_020919.4(ALS2):c.4626+1G>A
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201705415C>T , CM000664.2:g.201705415C>T GRCh38
NC_000002.11:g.202570138C>T , CM000664.1:g.202570138C>T GRCh37
NC_000002.10:g.202278383C>T NCBI36
NG_008775.1:g.80758G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4626+1G>A MANE Select NP_065970.2:n.4626+1G>A
ENST00000264276.11:c.4626+1G>A MANE Select ENSP00000264276.6:n.4626+1G>A
NM_020919.3:c.4626+1G>A NP_065970.2:n.4626+1G>A
ENST00000264276.10:c.4626+1G>A ENSP00000264276.6:n.4626+1G>A
ENST00000439495.5:c.2730+1G>A
ENST00000439495.6:c.*806+1G>A ENSP00000403832.2:n.*806+1G>A
ENST00000679409.1:c.*1096+1G>A ENSP00000506531.1:n.*1096+1G>A
ENST00000679416.1:n.6130+1G>A
ENST00000679427.1:n.2062+1G>A
ENST00000679435.1:c.4626+1G>A ENSP00000505218.1:n.4626+1G>A
ENST00000679516.1:c.4626+1G>A ENSP00000505187.1:n.4626+1G>A
ENST00000679618.1:c.*1714+1G>A ENSP00000506274.1:n.*1714+1G>A
ENST00000679630.1:n.6475+1G>A
ENST00000679635.1:n.2653+1G>A
ENST00000679686.1:n.4740+1G>A
ENST00000679701.1:n.7618+1G>A
ENST00000679916.1:c.*974+1G>A ENSP00000506172.1:n.*974+1G>A
ENST00000680000.1:c.4626+1G>A ENSP00000506173.1:n.4626+1G>A
ENST00000680135.1:c.*2587+1G>A ENSP00000506211.1:n.*2587+1G>A
ENST00000680149.1:c.4623+1G>A ENSP00000506497.1:n.4623+1G>A
ENST00000680163.1:c.4626+1G>A ENSP00000505092.1:n.4626+1G>A
ENST00000680174.1:n.5317+1G>A
ENST00000680236.1:c.*1687+1G>A ENSP00000506212.1:n.*1687+1G>A
ENST00000680441.1:n.3184+1G>A
ENST00000680497.1:c.4728+1G>A ENSP00000505954.1:n.4728+1G>A
ENST00000680508.1:c.4623+1G>A ENSP00000505749.1:n.4623+1G>A
ENST00000680569.1:c.*2334+1G>A ENSP00000505522.1:n.*2334+1G>A
ENST00000680634.1:n.1134+1G>A
ENST00000680722.1:n.2426+1G>A
ENST00000680726.1:c.4626+1G>A ENSP00000505505.1:n.4626+1G>A
ENST00000680759.1:c.4458+1G>A ENSP00000505848.1:n.4458+1G>A
ENST00000680814.1:c.4626+1G>A ENSP00000505710.1:n.4626+1G>A
ENST00000680828.1:c.*2320+1G>A ENSP00000505249.1:n.*2320+1G>A
ENST00000680861.1:c.4626+1G>A ENSP00000505043.1:n.4626+1G>A
ENST00000680927.1:c.*806+1G>A ENSP00000505473.1:n.*806+1G>A
ENST00000680939.1:n.6352+1G>A
ENST00000681250.1:c.*1343+1G>A ENSP00000505684.1:n.*1343+1G>A
ENST00000681256.1:c.*2641+1G>A ENSP00000505446.1:n.*2641+1G>A
ENST00000681279.1:n.5492+1G>A
ENST00000681307.1:n.5739+1G>A
ENST00000681461.1:n.5394+1G>A
ENST00000681495.1:c.2163+1G>A ENSP00000506085.1:n.2163+1G>A
ENST00000681558.1:c.2304+1G>A ENSP00000505568.1:n.2304+1G>A
ENST00000681619.1:c.4623+1G>A ENSP00000505071.1:n.4623+1G>A
ENST00000681663.1:n.1532+1G>A
ENST00000681692.1:n.2586+1G>A
ENST00000681716.1:c.*2480+1G>A ENSP00000505078.1:n.*2480+1G>A
ENST00000681768.1:c.*2290+1G>A ENSP00000506311.1:n.*2290+1G>A
ENST00000681808.1:c.4449+1G>A ENSP00000505219.1:n.4449+1G>A
XM_005246709.2:c.4623+1G>A XP_005246766.1:n.4623+1G>A
XM_006712654.1:c.4626+1G>A XP_006712717.1:n.4626+1G>A
XM_006712654.3:c.4626+1G>A XP_006712717.1:n.4626+1G>A
XM_006712655.2:c.2562+1G>A XP_006712718.1:n.2562+1G>A
XM_006712655.3:c.2562+1G>A XP_006712718.1:n.2562+1G>A
XM_011511530.1:c.4287+1G>A XP_011509832.1:n.4287+1G>A
XM_017004569.2:c.4623+1G>A XP_016860058.1:n.4623+1G>A
XM_017004572.2:c.2244+1G>A XP_016860061.1:n.2244+1G>A
XM_024453024.1:c.4287+1G>A XP_024308792.1:n.4287+1G>A
XM_024453025.1:c.2559+1G>A XP_024308793.1:n.2559+1G>A
XR_001738864.2:n.4761+1G>A
XR_001738865.2:n.4758+1G>A
XR_001738866.2:n.4904+1G>A
XR_001738867.2:n.4901+1G>A
XR_002959320.1:n.3817+1G>A
XR_922974.1:n.4904+1G>A