Canonical Allele Identifier: CA350317000
Community Standard Title: NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)
Gene: ALS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201715693C>T , CM000664.2:g.201715693C>T GRCh38
NC_000002.11:g.202580416C>T , CM000664.1:g.202580416C>T GRCh37
NC_000002.10:g.202288661C>T NCBI36
NG_008775.1:g.70480G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020919.4:c.3983G>A MANE Select NP_065970.2:p.Ser1328Asn
ENST00000264276.11:c.3983G>A MANE Select ENSP00000264276.6:p.Ser1328Asn
NM_020919.3:c.3983G>A NP_065970.2:p.Ser1328Asn
ENST00000264276.10:c.3983G>A ENSP00000264276.6:p.Ser1328Asn
ENST00000439495.5:c.2087G>A
ENST00000439495.6:c.*163G>A ENSP00000403832.2:n.*163G>A
ENST00000679409.1:c.*453G>A ENSP00000506531.1:n.*453G>A
ENST00000679416.1:n.5487G>A
ENST00000679435.1:c.3983G>A ENSP00000505218.1:p.Ser1328Asn
ENST00000679516.1:c.3983G>A ENSP00000505187.1:p.Ser1328Asn
ENST00000679618.1:c.*1071G>A ENSP00000506274.1:n.*1071G>A
ENST00000679630.1:n.5832G>A
ENST00000679686.1:n.4097G>A
ENST00000679701.1:n.6975G>A
ENST00000679916.1:c.*331G>A ENSP00000506172.1:n.*331G>A
ENST00000680000.1:c.3983G>A ENSP00000506173.1:p.Ser1328Asn
ENST00000680135.1:c.*1944G>A ENSP00000506211.1:n.*1944G>A
ENST00000680149.1:c.3980G>A ENSP00000506497.1:p.Ser1327Asn
ENST00000680163.1:c.3983G>A ENSP00000505092.1:p.Ser1328Asn
ENST00000680174.1:n.4674G>A
ENST00000680236.1:c.*1044G>A ENSP00000506212.1:n.*1044G>A
ENST00000680441.1:n.2541G>A
ENST00000680497.1:c.4085G>A ENSP00000505954.1:p.Ser1362Asn
ENST00000680508.1:c.3980G>A ENSP00000505749.1:p.Ser1327Asn
ENST00000680569.1:c.*1691G>A ENSP00000505522.1:n.*1691G>A
ENST00000680630.1:n.4415G>A
ENST00000680634.1:n.491G>A
ENST00000680722.1:n.1783G>A
ENST00000680726.1:c.3983G>A ENSP00000505505.1:p.Ser1328Asn
ENST00000680737.1:n.4254G>A
ENST00000680759.1:c.3836+2384G>A ENSP00000505848.1:n.3836+2384G>A
ENST00000680814.1:c.3983G>A ENSP00000505710.1:p.Ser1328Asn
ENST00000680828.1:c.*1677G>A ENSP00000505249.1:n.*1677G>A
ENST00000680861.1:c.3983G>A ENSP00000505043.1:p.Ser1328Asn
ENST00000680927.1:c.*163G>A ENSP00000505473.1:n.*163G>A
ENST00000680939.1:n.4325G>A
ENST00000681250.1:c.*700G>A ENSP00000505684.1:n.*700G>A
ENST00000681256.1:c.*1998G>A ENSP00000505446.1:n.*1998G>A
ENST00000681279.1:n.4849G>A
ENST00000681307.1:n.5096G>A
ENST00000681461.1:n.4751G>A
ENST00000681495.1:c.1520G>A ENSP00000506085.1:p.Ser507Asn
ENST00000681558.1:c.1661G>A ENSP00000505568.1:p.Ser554Asn
ENST00000681619.1:c.3980G>A ENSP00000505071.1:p.Ser1327Asn
ENST00000681663.1:n.889G>A
ENST00000681716.1:c.*1837G>A ENSP00000505078.1:n.*1837G>A
ENST00000681758.1:n.4325G>A
ENST00000681768.1:c.*1647G>A ENSP00000506311.1:n.*1647G>A
ENST00000681808.1:c.3983G>A ENSP00000505219.1:p.Ser1328Asn
XM_005246709.2:c.3980G>A XP_005246766.1:p.Ser1327Asn
XM_006712654.1:c.3983G>A XP_006712717.1:p.Ser1328Asn
XM_006712654.3:c.3983G>A XP_006712717.1:p.Ser1328Asn
XM_006712655.2:c.1919G>A XP_006712718.1:p.Ser640Asn
XM_006712655.3:c.1919G>A XP_006712718.1:p.Ser640Asn
XM_011511530.1:c.3644G>A XP_011509832.1:p.Ser1215Asn
XM_011511531.1:c.3983G>A XP_011509833.1:p.Ser1328Asn
XM_017004569.2:c.3980G>A XP_016860058.1:p.Ser1327Asn
XM_017004570.2:c.3983G>A XP_016860059.1:p.Ser1328Asn
XM_017004572.2:c.1601G>A XP_016860061.1:p.Ser534Asn
XM_024453024.1:c.3644G>A XP_024308792.1:p.Ser1215Asn
XM_024453025.1:c.1916G>A XP_024308793.1:p.Ser639Asn
XR_001738864.2:n.4118G>A
XR_001738865.2:n.4115G>A
XR_001738866.2:n.4261G>A
XR_001738867.2:n.4258G>A
XR_002959320.1:n.3174G>A
XR_922974.1:n.4261G>A