Canonical Allele Identifier: CA356571
Gene: ALS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208554
ClinVar RCV Id: RCV000034989
dbSNP Id: rs386134186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723325C>G , CM000664.2:g.201723325C>G GRCh38
NC_000002.11:g.202588048C>G , CM000664.1:g.202588048C>G GRCh37
NC_000002.10:g.202296293C>G NCBI36
NG_008775.1:g.62848G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264276.11:c.3624+5G>C MANE Select ENSP00000264276.6:n.3624+5G>C
ENST00000439495.6:c.1302+5G>C ENSP00000403832.2:n.1302+5G>C
ENST00000482891.6:n.4392+5G>C
ENST00000494017.6:n.1356+5G>C
ENST00000679409.1:c.1302+5G>C ENSP00000506531.1:n.1302+5G>C
ENST00000679416.1:n.5128+5G>C
ENST00000679435.1:c.3624+5G>C ENSP00000505218.1:n.3624+5G>C
ENST00000679516.1:c.3624+5G>C ENSP00000505187.1:n.3624+5G>C
ENST00000679618.1:c.*712+5G>C ENSP00000506274.1:n.*712+5G>C
ENST00000679630.1:n.5473+5G>C
ENST00000679686.1:n.3738+5G>C
ENST00000679701.1:n.6616+5G>C
ENST00000679916.1:c.3624+5G>C ENSP00000506172.1:n.3624+5G>C
ENST00000680000.1:c.3624+5G>C ENSP00000506173.1:n.3624+5G>C
ENST00000680135.1:c.*1588+5G>C ENSP00000506211.1:n.*1588+5G>C
ENST00000680149.1:c.3624+5G>C ENSP00000506497.1:n.3624+5G>C
ENST00000680163.1:c.3624+5G>C ENSP00000505092.1:n.3624+5G>C
ENST00000680174.1:n.4315+5G>C
ENST00000680236.1:c.*685+5G>C ENSP00000506212.1:n.*685+5G>C
ENST00000680497.1:c.3726+5G>C ENSP00000505954.1:n.3726+5G>C
ENST00000680508.1:c.3624+5G>C ENSP00000505749.1:n.3624+5G>C
ENST00000680569.1:c.*1335+5G>C ENSP00000505522.1:n.*1335+5G>C
ENST00000680630.1:n.4056+5G>C
ENST00000680634.1:n.21-2836G>C
ENST00000680722.1:n.1424+5G>C
ENST00000680723.1:n.4407+5G>C
ENST00000680726.1:c.3624+5G>C ENSP00000505505.1:n.3624+5G>C
ENST00000680737.1:n.3895+5G>C
ENST00000680759.1:c.3624+5G>C ENSP00000505848.1:n.3624+5G>C
ENST00000680814.1:c.3624+5G>C ENSP00000505710.1:n.3624+5G>C
ENST00000680828.1:c.*1196+5G>C ENSP00000505249.1:n.*1196+5G>C
ENST00000680861.1:c.3624+5G>C ENSP00000505043.1:n.3624+5G>C
ENST00000680927.1:c.3624+5G>C ENSP00000505473.1:n.3624+5G>C
ENST00000680939.1:n.3966+5G>C
ENST00000681152.1:c.3624+5G>C ENSP00000505388.1:n.3624+5G>C
ENST00000681250.1:c.*341+5G>C ENSP00000505684.1:n.*341+5G>C
ENST00000681256.1:c.*1642+5G>C ENSP00000505446.1:n.*1642+5G>C
ENST00000681279.1:n.4392+5G>C
ENST00000681303.1:c.3624+5G>C ENSP00000505576.1:n.3624+5G>C
ENST00000681307.1:n.4737+5G>C
ENST00000681461.1:n.4392+5G>C
ENST00000681495.1:c.1164+5G>C ENSP00000506085.1:n.1164+5G>C
ENST00000681558.1:c.1302+5G>C ENSP00000505568.1:n.1302+5G>C
ENST00000681619.1:c.3624+5G>C ENSP00000505071.1:n.3624+5G>C
ENST00000681716.1:c.*1335+5G>C ENSP00000505078.1:n.*1335+5G>C
ENST00000681758.1:n.3966+5G>C
ENST00000681768.1:c.*1288+5G>C ENSP00000506311.1:n.*1288+5G>C
ENST00000681808.1:c.3624+5G>C ENSP00000505219.1:n.3624+5G>C
ENST00000264276.10:c.3624+5G>C ENSP00000264276.6:n.3624+5G>C
ENST00000439495.5:c.1585+5G>C
ENST00000482891.5:n.3764+5G>C
ENST00000489440.5:n.445+5G>C
NM_020919.3:c.3624+5G>C NP_065970.2:n.3624+5G>C
XM_005246709.2:c.3624+5G>C XP_005246766.1:n.3624+5G>C
XM_006712654.1:c.3624+5G>C XP_006712717.1:n.3624+5G>C
XM_006712655.2:c.1560+5G>C XP_006712718.1:n.1560+5G>C
XM_011511530.1:c.3285+5G>C XP_011509832.1:n.3285+5G>C
XM_011511531.1:c.3624+5G>C XP_011509833.1:n.3624+5G>C
XR_922974.1:n.3759+5G>C
XM_006712654.3:c.3624+5G>C XP_006712717.1:n.3624+5G>C
XM_006712655.3:c.1560+5G>C XP_006712718.1:n.1560+5G>C
XM_017004569.2:c.3624+5G>C XP_016860058.1:n.3624+5G>C
XM_017004570.2:c.3624+5G>C XP_016860059.1:n.3624+5G>C
XM_017004572.2:c.1242+5G>C XP_016860061.1:n.1242+5G>C
XM_024453024.1:c.3285+5G>C XP_024308792.1:n.3285+5G>C
XM_024453025.1:c.1560+5G>C XP_024308793.1:n.1560+5G>C
XR_001738864.2:n.3759+5G>C
XR_001738865.2:n.3759+5G>C
XR_001738866.2:n.3759+5G>C
XR_001738867.2:n.3759+5G>C
XR_002959320.1:n.2815+5G>C
NM_020919.4:c.3624+5G>C MANE Select NP_065970.2:n.3624+5G>C