Canonical Allele Identifier: CA2058053
Community Standard Title: NM_020919.4(ALS2):c.2912+8C>T
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201727697G>A , CM000664.2:g.201727697G>A GRCh38
NC_000002.11:g.202592420G>A , CM000664.1:g.202592420G>A GRCh37
NC_000002.10:g.202300665G>A NCBI36
NG_008775.1:g.58476C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.2912+8C>T MANE Select NP_065970.2:n.2912+8C>T
ENST00000264276.11:c.2912+8C>T MANE Select ENSP00000264276.6:n.2912+8C>T
NM_020919.3:c.2912+8C>T NP_065970.2:n.2912+8C>T
ENST00000264276.10:c.2912+8C>T ENSP00000264276.6:n.2912+8C>T
ENST00000439495.5:c.873+8C>T
ENST00000439495.6:c.590+8C>T ENSP00000403832.2:n.590+8C>T
ENST00000482891.5:n.3052+8C>T
ENST00000482891.6:n.3262C>T
ENST00000494017.5:n.440-419C>T
ENST00000494017.6:n.644+8C>T
ENST00000679409.1:c.590+8C>T ENSP00000506531.1:n.590+8C>T
ENST00000679416.1:n.3998C>T
ENST00000679435.1:c.2912+8C>T ENSP00000505218.1:n.2912+8C>T
ENST00000679516.1:c.2912+8C>T ENSP00000505187.1:n.2912+8C>T
ENST00000679618.1:c.2916+4C>T ENSP00000506274.1:n.2916+4C>T
ENST00000679630.1:n.3998C>T
ENST00000679686.1:n.3026+8C>T
ENST00000679701.1:n.3998C>T
ENST00000679916.1:c.2912+8C>T ENSP00000506172.1:n.2912+8C>T
ENST00000680000.1:c.2912+8C>T ENSP00000506173.1:n.2912+8C>T
ENST00000680135.1:c.*876+8C>T ENSP00000506211.1:n.*876+8C>T
ENST00000680149.1:c.2912+8C>T ENSP00000506497.1:n.2912+8C>T
ENST00000680163.1:c.2912+8C>T ENSP00000505092.1:n.2912+8C>T
ENST00000680174.1:n.3603+8C>T
ENST00000680236.1:c.2842-419C>T ENSP00000506212.1:n.2842-419C>T
ENST00000680497.1:c.3014+8C>T ENSP00000505954.1:n.3014+8C>T
ENST00000680508.1:c.2912+8C>T ENSP00000505749.1:n.2912+8C>T
ENST00000680569.1:c.*623+8C>T ENSP00000505522.1:n.*623+8C>T
ENST00000680630.1:n.3344+8C>T
ENST00000680634.1:n.21-7208C>T
ENST00000680722.1:n.712+8C>T
ENST00000680723.1:n.1789C>T
ENST00000680726.1:c.2912+8C>T ENSP00000505505.1:n.2912+8C>T
ENST00000680737.1:n.3184-419C>T
ENST00000680759.1:c.2912+8C>T ENSP00000505848.1:n.2912+8C>T
ENST00000680814.1:c.2912+8C>T ENSP00000505710.1:n.2912+8C>T
ENST00000680828.1:c.*484+8C>T ENSP00000505249.1:n.*484+8C>T
ENST00000680861.1:c.2912+8C>T ENSP00000505043.1:n.2912+8C>T
ENST00000680927.1:c.2912+8C>T ENSP00000505473.1:n.2912+8C>T
ENST00000680939.1:n.3254+8C>T
ENST00000681152.1:c.2912+8C>T ENSP00000505388.1:n.2912+8C>T
ENST00000681250.1:c.1472-2243C>T ENSP00000505684.1:n.1472-2243C>T
ENST00000681256.1:c.*512C>T ENSP00000505446.1:n.*512C>T
ENST00000681279.1:n.3262C>T
ENST00000681303.1:c.2912+8C>T ENSP00000505576.1:n.2912+8C>T
ENST00000681307.1:n.3262C>T
ENST00000681461.1:n.3262C>T
ENST00000681495.1:c.519+815C>T ENSP00000506085.1:n.519+815C>T
ENST00000681558.1:c.590+8C>T ENSP00000505568.1:n.590+8C>T
ENST00000681619.1:c.2912+8C>T ENSP00000505071.1:n.2912+8C>T
ENST00000681716.1:c.*623+8C>T ENSP00000505078.1:n.*623+8C>T
ENST00000681758.1:n.3254+8C>T
ENST00000681768.1:c.*576+8C>T ENSP00000506311.1:n.*576+8C>T
ENST00000681808.1:c.2912+8C>T ENSP00000505219.1:n.2912+8C>T
XM_005246709.2:c.2912+8C>T XP_005246766.1:n.2912+8C>T
XM_006712654.1:c.2912+8C>T XP_006712717.1:n.2912+8C>T
XM_006712654.3:c.2912+8C>T XP_006712717.1:n.2912+8C>T
XM_006712655.2:c.848+8C>T XP_006712718.1:n.848+8C>T
XM_006712655.3:c.848+8C>T XP_006712718.1:n.848+8C>T
XM_011511530.1:c.2573+8C>T XP_011509832.1:n.2573+8C>T
XM_011511531.1:c.2912+8C>T XP_011509833.1:n.2912+8C>T
XM_017004569.2:c.2912+8C>T XP_016860058.1:n.2912+8C>T
XM_017004570.2:c.2912+8C>T XP_016860059.1:n.2912+8C>T
XM_017004572.2:c.530+8C>T XP_016860061.1:n.530+8C>T
XM_024453024.1:c.2573+8C>T XP_024308792.1:n.2573+8C>T
XM_024453025.1:c.848+8C>T XP_024308793.1:n.848+8C>T
XR_001738864.2:n.3047+8C>T
XR_001738865.2:n.3047+8C>T
XR_001738866.2:n.3047+8C>T
XR_001738867.2:n.3047+8C>T
XR_002959320.1:n.2103+8C>T
XR_922974.1:n.3047+8C>T