Canonical Allele Identifier: CA350320381
Gene: ALS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704172C>G , CM000664.2:g.201704172C>G GRCh38
NC_000002.11:g.202568895C>G , CM000664.1:g.202568895C>G GRCh37
NC_000002.10:g.202277140C>G NCBI36
NG_008775.1:g.82001G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4885G>C MANE Select ENSP00000264276.6:p.Asp1629His
ENST00000439495.6:c.*1065G>C ENSP00000403832.2:n.*1065G>C
ENST00000679409.1:c.*1590G>C ENSP00000506531.1:n.*1590G>C
ENST00000679416.1:n.6389G>C
ENST00000679427.1:n.2556G>C
ENST00000679435.1:c.4885G>C ENSP00000505218.1:p.Asp1629His
ENST00000679516.1:c.4885G>C ENSP00000505187.1:p.Asp1629His
ENST00000679618.1:c.*1973G>C ENSP00000506274.1:n.*1973G>C
ENST00000679630.1:n.6734G>C
ENST00000679635.1:n.3147G>C
ENST00000679686.1:n.4999G>C
ENST00000679701.1:n.7877G>C
ENST00000679916.1:c.*1233G>C ENSP00000506172.1:n.*1233G>C
ENST00000680000.1:c.4885G>C ENSP00000506173.1:p.Asp1629His
ENST00000680135.1:c.*2846G>C ENSP00000506211.1:n.*2846G>C
ENST00000680149.1:c.*167G>C ENSP00000506497.1:n.*167G>C
ENST00000680163.1:c.4885G>C ENSP00000505092.1:p.Asp1629His
ENST00000680174.1:n.5576G>C
ENST00000680236.1:c.*1946G>C ENSP00000506212.1:n.*1946G>C
ENST00000680404.1:n.400G>C
ENST00000680441.1:n.3443G>C
ENST00000680497.1:c.4987G>C ENSP00000505954.1:p.Asp1663His
ENST00000680508.1:c.*41G>C ENSP00000505749.1:n.*41G>C
ENST00000680569.1:c.*2828G>C ENSP00000505522.1:n.*2828G>C
ENST00000680634.1:n.1393G>C
ENST00000680722.1:n.2685G>C
ENST00000680726.1:c.*167G>C ENSP00000505505.1:n.*167G>C
ENST00000680759.1:c.4717G>C ENSP00000505848.1:p.Asp1573His
ENST00000680814.1:c.4838+282G>C ENSP00000505710.1:n.4838+282G>C
ENST00000680828.1:c.*2579G>C ENSP00000505249.1:n.*2579G>C
ENST00000680861.1:c.4885G>C ENSP00000505043.1:p.Asp1629His
ENST00000680927.1:c.*1065G>C ENSP00000505473.1:n.*1065G>C
ENST00000680939.1:n.6826G>C
ENST00000681250.1:c.*1602G>C ENSP00000505684.1:n.*1602G>C
ENST00000681256.1:c.*2900G>C ENSP00000505446.1:n.*2900G>C
ENST00000681279.1:n.5751G>C
ENST00000681307.1:n.5998G>C
ENST00000681461.1:n.5653G>C
ENST00000681495.1:c.2422G>C ENSP00000506085.1:p.Asp808His
ENST00000681558.1:c.2563G>C ENSP00000505568.1:p.Asp855His
ENST00000681619.1:c.4882G>C ENSP00000505071.1:p.Asp1628His
ENST00000681663.1:n.1791G>C
ENST00000681692.1:n.2845G>C
ENST00000681716.1:c.*2739G>C ENSP00000505078.1:n.*2739G>C
ENST00000681768.1:c.*2549G>C ENSP00000506311.1:n.*2549G>C
ENST00000681808.1:c.4708G>C ENSP00000505219.1:p.Asp1570His
ENST00000264276.10:c.4885G>C ENSP00000264276.6:p.Asp1629His
ENST00000439495.5:c.2989G>C
NM_020919.3:c.4885G>C NP_065970.2:p.Asp1629His
XM_005246709.2:c.4882G>C XP_005246766.1:p.Asp1628His
XM_006712654.1:c.4885G>C XP_006712717.1:p.Asp1629His
XM_006712655.2:c.2821G>C XP_006712718.1:p.Asp941His
XM_011511530.1:c.4546G>C XP_011509832.1:p.Asp1516His
XR_922974.1:n.5163G>C
XM_006712654.3:c.4885G>C XP_006712717.1:p.Asp1629His
XM_006712655.3:c.2821G>C XP_006712718.1:p.Asp941His
XM_017004569.2:c.4882G>C XP_016860058.1:p.Asp1628His
XM_017004572.2:c.2503G>C XP_016860061.1:p.Asp835His
XM_024453024.1:c.4546G>C XP_024308792.1:p.Asp1516His
XM_024453025.1:c.2818G>C XP_024308793.1:p.Asp940His
XR_001738864.2:n.5000G>C
XR_001738865.2:n.4997G>C
XR_001738866.2:n.5163G>C
XR_001738867.2:n.5160G>C
XR_002959320.1:n.4056G>C
NM_020919.4:c.4885G>C MANE Select NP_065970.2:p.Asp1629His