Canonical Allele Identifier: CA2057641
Community Standard Title: NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201709967G>A , CM000664.2:g.201709967G>A GRCh38
NC_000002.11:g.202574690G>A , CM000664.1:g.202574690G>A GRCh37
NC_000002.10:g.202282935G>A NCBI36
NG_008775.1:g.76206C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4194C>T MANE Select NP_065970.2:p.Tyr1398=
ENST00000264276.11:c.4194C>T MANE Select ENSP00000264276.6:p.Tyr1398=
NM_020919.3:c.4194C>T NP_065970.2:p.Tyr1398=
ENST00000264276.10:c.4194C>T ENSP00000264276.6:p.Tyr1398=
ENST00000439495.5:c.2298C>T
ENST00000439495.6:c.*374C>T ENSP00000403832.2:n.*374C>T
ENST00000679409.1:c.*664C>T ENSP00000506531.1:n.*664C>T
ENST00000679416.1:n.5698C>T
ENST00000679427.1:n.1630C>T
ENST00000679435.1:c.4194C>T ENSP00000505218.1:p.Tyr1398=
ENST00000679516.1:c.4194C>T ENSP00000505187.1:p.Tyr1398=
ENST00000679618.1:c.*1282C>T ENSP00000506274.1:n.*1282C>T
ENST00000679630.1:n.6043C>T
ENST00000679635.1:n.2221C>T
ENST00000679686.1:n.4308C>T
ENST00000679701.1:n.7186C>T
ENST00000679916.1:c.*542C>T ENSP00000506172.1:n.*542C>T
ENST00000680000.1:c.4194C>T ENSP00000506173.1:p.Tyr1398=
ENST00000680135.1:c.*2155C>T ENSP00000506211.1:n.*2155C>T
ENST00000680149.1:c.4191C>T ENSP00000506497.1:p.Tyr1397=
ENST00000680163.1:c.4194C>T ENSP00000505092.1:p.Tyr1398=
ENST00000680174.1:n.4885C>T
ENST00000680236.1:c.*1255C>T ENSP00000506212.1:n.*1255C>T
ENST00000680441.1:n.2752C>T
ENST00000680497.1:c.4296C>T ENSP00000505954.1:p.Tyr1432=
ENST00000680508.1:c.4191C>T ENSP00000505749.1:p.Tyr1397=
ENST00000680569.1:c.*1902C>T ENSP00000505522.1:n.*1902C>T
ENST00000680634.1:n.702C>T
ENST00000680722.1:n.1994C>T
ENST00000680726.1:c.4194C>T ENSP00000505505.1:p.Tyr1398=
ENST00000680759.1:c.4026C>T ENSP00000505848.1:p.Tyr1342=
ENST00000680814.1:c.4194C>T ENSP00000505710.1:p.Tyr1398=
ENST00000680828.1:c.*1888C>T ENSP00000505249.1:n.*1888C>T
ENST00000680861.1:c.4194C>T ENSP00000505043.1:p.Tyr1398=
ENST00000680927.1:c.*374C>T ENSP00000505473.1:n.*374C>T
ENST00000680939.1:n.4536C>T
ENST00000681250.1:c.*911C>T ENSP00000505684.1:n.*911C>T
ENST00000681256.1:c.*2209C>T ENSP00000505446.1:n.*2209C>T
ENST00000681279.1:n.5060C>T
ENST00000681307.1:n.5307C>T
ENST00000681461.1:n.4962C>T
ENST00000681495.1:c.1731C>T ENSP00000506085.1:p.Tyr577=
ENST00000681558.1:c.1872C>T ENSP00000505568.1:p.Tyr624=
ENST00000681619.1:c.4191C>T ENSP00000505071.1:p.Tyr1397=
ENST00000681663.1:n.1100C>T
ENST00000681692.1:n.2154C>T
ENST00000681716.1:c.*2048C>T ENSP00000505078.1:n.*2048C>T
ENST00000681768.1:c.*1858C>T ENSP00000506311.1:n.*1858C>T
ENST00000681808.1:c.4194C>T ENSP00000505219.1:p.Tyr1398=
XM_005246709.2:c.4191C>T XP_005246766.1:p.Tyr1397=
XM_006712654.1:c.4194C>T XP_006712717.1:p.Tyr1398=
XM_006712654.3:c.4194C>T XP_006712717.1:p.Tyr1398=
XM_006712655.2:c.2130C>T XP_006712718.1:p.Tyr710=
XM_006712655.3:c.2130C>T XP_006712718.1:p.Tyr710=
XM_011511530.1:c.3855C>T XP_011509832.1:p.Tyr1285=
XM_017004569.2:c.4191C>T XP_016860058.1:p.Tyr1397=
XM_017004572.2:c.1812C>T XP_016860061.1:p.Tyr604=
XM_024453024.1:c.3855C>T XP_024308792.1:p.Tyr1285=
XM_024453025.1:c.2127C>T XP_024308793.1:p.Tyr709=
XR_001738864.2:n.4329C>T
XR_001738865.2:n.4326C>T
XR_001738866.2:n.4472C>T
XR_001738867.2:n.4469C>T
XR_002959320.1:n.3385C>T
XR_922974.1:n.4472C>T