Canonical Allele Identifier: CA430666953
Gene: ALS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.202568869C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201704146C>T , CM000664.2:g.201704146C>T GRCh38
NC_000002.11:g.202568869C>T , CM000664.1:g.202568869C>T GRCh37
NC_000002.10:g.202277114C>T NCBI36
NG_008775.1:g.82027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264276.11:c.4911G>A MANE Select ENSP00000264276.6:p.Gln1637=
ENST00000439495.6:c.*1091G>A ENSP00000403832.2:n.*1091G>A
ENST00000679409.1:c.*1616G>A ENSP00000506531.1:n.*1616G>A
ENST00000679416.1:n.6415G>A
ENST00000679427.1:n.2582G>A
ENST00000679435.1:c.4911G>A ENSP00000505218.1:p.Gln1637=
ENST00000679516.1:c.4911G>A ENSP00000505187.1:p.Gln1637=
ENST00000679618.1:c.*1999G>A ENSP00000506274.1:n.*1999G>A
ENST00000679630.1:n.6760G>A
ENST00000679635.1:n.3173G>A
ENST00000679686.1:n.5025G>A
ENST00000679701.1:n.7903G>A
ENST00000679916.1:c.*1259G>A ENSP00000506172.1:n.*1259G>A
ENST00000680000.1:c.4911G>A ENSP00000506173.1:p.Gln1637=
ENST00000680135.1:c.*2872G>A ENSP00000506211.1:n.*2872G>A
ENST00000680149.1:c.*193G>A ENSP00000506497.1:n.*193G>A
ENST00000680163.1:c.4911G>A ENSP00000505092.1:p.Gln1637=
ENST00000680174.1:n.5602G>A
ENST00000680236.1:c.*1972G>A ENSP00000506212.1:n.*1972G>A
ENST00000680404.1:n.426G>A
ENST00000680441.1:n.3469G>A
ENST00000680497.1:c.5013G>A ENSP00000505954.1:p.Gln1671=
ENST00000680508.1:c.*67G>A ENSP00000505749.1:n.*67G>A
ENST00000680569.1:c.*2854G>A ENSP00000505522.1:n.*2854G>A
ENST00000680634.1:n.1419G>A
ENST00000680722.1:n.2711G>A
ENST00000680726.1:c.*193G>A ENSP00000505505.1:n.*193G>A
ENST00000680759.1:c.4743G>A ENSP00000505848.1:p.Gln1581=
ENST00000680814.1:c.4838+308G>A ENSP00000505710.1:n.4838+308G>A
ENST00000680828.1:c.*2605G>A ENSP00000505249.1:n.*2605G>A
ENST00000680861.1:c.4911G>A ENSP00000505043.1:p.Gln1637=
ENST00000680927.1:c.*1091G>A ENSP00000505473.1:n.*1091G>A
ENST00000680939.1:n.6852G>A
ENST00000681250.1:c.*1628G>A ENSP00000505684.1:n.*1628G>A
ENST00000681256.1:c.*2926G>A ENSP00000505446.1:n.*2926G>A
ENST00000681279.1:n.5777G>A
ENST00000681307.1:n.6024G>A
ENST00000681461.1:n.5679G>A
ENST00000681495.1:c.2448G>A ENSP00000506085.1:p.Gln816=
ENST00000681558.1:c.2589G>A ENSP00000505568.1:p.Gln863=
ENST00000681619.1:c.4908G>A ENSP00000505071.1:p.Gln1636=
ENST00000681663.1:n.1817G>A
ENST00000681692.1:n.2871G>A
ENST00000681716.1:c.*2765G>A ENSP00000505078.1:n.*2765G>A
ENST00000681768.1:c.*2575G>A ENSP00000506311.1:n.*2575G>A
ENST00000681808.1:c.4734G>A ENSP00000505219.1:p.Gln1578=
ENST00000264276.10:c.4911G>A ENSP00000264276.6:p.Gln1637=
ENST00000439495.5:c.3015G>A
NM_020919.3:c.4911G>A NP_065970.2:p.Gln1637=
XM_005246709.2:c.4908G>A XP_005246766.1:p.Gln1636=
XM_006712654.1:c.4911G>A XP_006712717.1:p.Gln1637=
XM_006712655.2:c.2847G>A XP_006712718.1:p.Gln949=
XM_011511530.1:c.4572G>A XP_011509832.1:p.Gln1524=
XR_922974.1:n.5189G>A
XM_006712654.3:c.4911G>A XP_006712717.1:p.Gln1637=
XM_006712655.3:c.2847G>A XP_006712718.1:p.Gln949=
XM_017004569.2:c.4908G>A XP_016860058.1:p.Gln1636=
XM_017004572.2:c.2529G>A XP_016860061.1:p.Gln843=
XM_024453024.1:c.4572G>A XP_024308792.1:p.Gln1524=
XM_024453025.1:c.2844G>A XP_024308793.1:p.Gln948=
XR_001738864.2:n.5026G>A
XR_001738865.2:n.5023G>A
XR_001738866.2:n.5189G>A
XR_001738867.2:n.5186G>A
XR_002959320.1:n.4082G>A
NM_020919.4:c.4911G>A MANE Select NP_065970.2:p.Gln1637=