Canonical Allele Identifier: CA350320524

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568940T>A (hg19) ; chr2:g.201704217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704217T>A , CM000664.2:g.201704217T>A	GRCh38
NC_000002.11:g.202568940T>A , CM000664.1:g.202568940T>A	GRCh37
NC_000002.10:g.202277185T>A	NCBI36
NG_008775.1:g.81956A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4840A>T MANE Select	ENSP00000264276.6:p.Ile1614Phe
ENST00000439495.6:c.*1020A>T	ENSP00000403832.2:n.*1020A>T
ENST00000679409.1:c.*1545A>T	ENSP00000506531.1:n.*1545A>T
ENST00000679416.1:n.6344A>T
ENST00000679427.1:n.2511A>T
ENST00000679435.1:c.4840A>T	ENSP00000505218.1:p.Ile1614Phe
ENST00000679516.1:c.4840A>T	ENSP00000505187.1:p.Ile1614Phe
ENST00000679618.1:c.*1928A>T	ENSP00000506274.1:n.*1928A>T
ENST00000679630.1:n.6689A>T
ENST00000679635.1:n.3102A>T
ENST00000679686.1:n.4954A>T
ENST00000679701.1:n.7832A>T
ENST00000679916.1:c.*1188A>T	ENSP00000506172.1:n.*1188A>T
ENST00000680000.1:c.4840A>T	ENSP00000506173.1:p.Ile1614Phe
ENST00000680135.1:c.*2801A>T	ENSP00000506211.1:n.*2801A>T
ENST00000680149.1:c.*122A>T	ENSP00000506497.1:n.*122A>T
ENST00000680163.1:c.4840A>T	ENSP00000505092.1:p.Ile1614Phe
ENST00000680174.1:n.5531A>T
ENST00000680236.1:c.*1901A>T	ENSP00000506212.1:n.*1901A>T
ENST00000680404.1:n.355A>T
ENST00000680441.1:n.3398A>T
ENST00000680497.1:c.4942A>T	ENSP00000505954.1:p.Ile1648Phe
ENST00000680508.1:c.4859A>T	ENSP00000505749.1:p.Asp1620Val
ENST00000680569.1:c.*2783A>T	ENSP00000505522.1:n.*2783A>T
ENST00000680634.1:n.1348A>T
ENST00000680722.1:n.2640A>T
ENST00000680726.1:c.*122A>T	ENSP00000505505.1:n.*122A>T
ENST00000680759.1:c.4672A>T	ENSP00000505848.1:p.Ile1558Phe
ENST00000680814.1:c.4838+237A>T	ENSP00000505710.1:n.4838+237A>T
ENST00000680828.1:c.*2534A>T	ENSP00000505249.1:n.*2534A>T
ENST00000680861.1:c.4840A>T	ENSP00000505043.1:p.Ile1614Phe
ENST00000680927.1:c.*1020A>T	ENSP00000505473.1:n.*1020A>T
ENST00000680939.1:n.6781A>T
ENST00000681250.1:c.*1557A>T	ENSP00000505684.1:n.*1557A>T
ENST00000681256.1:c.*2855A>T	ENSP00000505446.1:n.*2855A>T
ENST00000681279.1:n.5706A>T
ENST00000681307.1:n.5953A>T
ENST00000681461.1:n.5608A>T
ENST00000681495.1:c.2377A>T	ENSP00000506085.1:p.Ile793Phe
ENST00000681558.1:c.2518A>T	ENSP00000505568.1:p.Ile840Phe
ENST00000681619.1:c.4837A>T	ENSP00000505071.1:p.Ile1613Phe
ENST00000681663.1:n.1746A>T
ENST00000681692.1:n.2800A>T
ENST00000681716.1:c.*2694A>T	ENSP00000505078.1:n.*2694A>T
ENST00000681768.1:c.*2504A>T	ENSP00000506311.1:n.*2504A>T
ENST00000681808.1:c.4663A>T	ENSP00000505219.1:p.Ile1555Phe
ENST00000264276.10:c.4840A>T	ENSP00000264276.6:p.Ile1614Phe
ENST00000439495.5:c.2944A>T
NM_020919.3:c.4840A>T	NP_065970.2:p.Ile1614Phe
XM_005246709.2:c.4837A>T	XP_005246766.1:p.Ile1613Phe
XM_006712654.1:c.4840A>T	XP_006712717.1:p.Ile1614Phe
XM_006712655.2:c.2776A>T	XP_006712718.1:p.Ile926Phe
XM_011511530.1:c.4501A>T	XP_011509832.1:p.Ile1501Phe
XR_922974.1:n.5118A>T
XM_006712654.3:c.4840A>T	XP_006712717.1:p.Ile1614Phe
XM_006712655.3:c.2776A>T	XP_006712718.1:p.Ile926Phe
XM_017004569.2:c.4837A>T	XP_016860058.1:p.Ile1613Phe
XM_017004572.2:c.2458A>T	XP_016860061.1:p.Ile820Phe
XM_024453024.1:c.4501A>T	XP_024308792.1:p.Ile1501Phe
XM_024453025.1:c.2773A>T	XP_024308793.1:p.Ile925Phe
XR_001738864.2:n.4955A>T
XR_001738865.2:n.4952A>T
XR_001738866.2:n.5118A>T
XR_001738867.2:n.5115A>T
XR_002959320.1:n.4011A>T
NM_020919.4:c.4840A>T MANE Select	NP_065970.2:p.Ile1614Phe