Canonical Allele Identifier: CA3085598036
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704571A= , CM000664.2:g.201704571A= GRCh38
NC_000002.11:g.202569294A= , CM000664.1:g.202569294A= GRCh37
NC_000002.10:g.202277539A= NCBI36
NG_008775.1:g.81602T=

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.4721T= MANE Select NP_065970.2:p.Val1574=
ENST00000264276.11:c.4721T= MANE Select ENSP00000264276.6:p.Val1574=
NM_020919.3:c.4721T= NP_065970.2:p.Val1574=
ENST00000264276.10:c.4721T= ENSP00000264276.6:p.Val1574=
ENST00000439495.5:c.2825T=
ENST00000439495.6:c.*901T= ENSP00000403832.2:n.*901T=
ENST00000679409.1:c.*1191T= ENSP00000506531.1:n.*1191T=
ENST00000679416.1:n.6225T=
ENST00000679427.1:n.2157T=
ENST00000679435.1:c.4721T= ENSP00000505218.1:p.Val1574=
ENST00000679516.1:c.4721T= ENSP00000505187.1:p.Val1574=
ENST00000679618.1:c.*1809T= ENSP00000506274.1:n.*1809T=
ENST00000679630.1:n.6570T=
ENST00000679635.1:n.2748T=
ENST00000679686.1:n.4835T=
ENST00000679701.1:n.7713T=
ENST00000679916.1:c.*1069T= ENSP00000506172.1:n.*1069T=
ENST00000680000.1:c.4721T= ENSP00000506173.1:p.Val1574=
ENST00000680135.1:c.*2682T= ENSP00000506211.1:n.*2682T=
ENST00000680149.1:c.*3T= ENSP00000506497.1:n.*3T=
ENST00000680163.1:c.4721T= ENSP00000505092.1:p.Val1574=
ENST00000680174.1:n.5412T=
ENST00000680236.1:c.*1782T= ENSP00000506212.1:n.*1782T=
ENST00000680404.1:n.236T=
ENST00000680441.1:n.3279T=
ENST00000680497.1:c.4823T= ENSP00000505954.1:p.Val1608=
ENST00000680508.1:c.4718T= ENSP00000505749.1:p.Val1573=
ENST00000680569.1:c.*2429T= ENSP00000505522.1:n.*2429T=
ENST00000680634.1:n.1229T=
ENST00000680722.1:n.2521T=
ENST00000680726.1:c.*3T= ENSP00000505505.1:n.*3T=
ENST00000680759.1:c.4553T= ENSP00000505848.1:p.Val1518=
ENST00000680814.1:c.4721T= ENSP00000505710.1:p.Val1574=
ENST00000680828.1:c.*2415T= ENSP00000505249.1:n.*2415T=
ENST00000680861.1:c.4721T= ENSP00000505043.1:p.Val1574=
ENST00000680927.1:c.*901T= ENSP00000505473.1:n.*901T=
ENST00000680939.1:n.6427T=
ENST00000681250.1:c.*1438T= ENSP00000505684.1:n.*1438T=
ENST00000681256.1:c.*2736T= ENSP00000505446.1:n.*2736T=
ENST00000681279.1:n.5587T=
ENST00000681307.1:n.5834T=
ENST00000681461.1:n.5489T=
ENST00000681495.1:c.2258T= ENSP00000506085.1:p.Val753=
ENST00000681558.1:c.2399T= ENSP00000505568.1:p.Val800=
ENST00000681619.1:c.4718T= ENSP00000505071.1:p.Val1573=
ENST00000681663.1:n.1627T=
ENST00000681692.1:n.2681T=
ENST00000681716.1:c.*2575T= ENSP00000505078.1:n.*2575T=
ENST00000681768.1:c.*2385T= ENSP00000506311.1:n.*2385T=
ENST00000681808.1:c.4544T= ENSP00000505219.1:p.Val1515=
XM_005246709.2:c.4718T= XP_005246766.1:p.Val1573=
XM_006712654.1:c.4721T= XP_006712717.1:p.Val1574=
XM_006712654.3:c.4721T= XP_006712717.1:p.Val1574=
XM_006712655.2:c.2657T= XP_006712718.1:p.Val886=
XM_006712655.3:c.2657T= XP_006712718.1:p.Val886=
XM_011511530.1:c.4382T= XP_011509832.1:p.Val1461=
XM_017004569.2:c.4718T= XP_016860058.1:p.Val1573=
XM_017004572.2:c.2339T= XP_016860061.1:p.Val780=
XM_024453024.1:c.4382T= XP_024308792.1:p.Val1461=
XM_024453025.1:c.2654T= XP_024308793.1:p.Val885=
XR_001738864.2:n.4836T=
XR_001738865.2:n.4833T=
XR_001738866.2:n.4999T=
XR_001738867.2:n.4996T=
XR_002959320.1:n.3892T=
XR_922974.1:n.4999T=