Canonical Allele Identifier: CA430667142

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568923A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704200A>T , CM000664.2:g.201704200A>T	GRCh38
NC_000002.11:g.202568923A>T , CM000664.1:g.202568923A>T	GRCh37
NC_000002.10:g.202277168A>T	NCBI36
NG_008775.1:g.81973T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4857T>A MANE Select	ENSP00000264276.6:p.Ser1619=
ENST00000439495.6:c.*1037T>A	ENSP00000403832.2:n.*1037T>A
ENST00000679409.1:c.*1562T>A	ENSP00000506531.1:n.*1562T>A
ENST00000679416.1:n.6361T>A
ENST00000679427.1:n.2528T>A
ENST00000679435.1:c.4857T>A	ENSP00000505218.1:p.Ser1619=
ENST00000679516.1:c.4857T>A	ENSP00000505187.1:p.Ser1619=
ENST00000679618.1:c.*1945T>A	ENSP00000506274.1:n.*1945T>A
ENST00000679630.1:n.6706T>A
ENST00000679635.1:n.3119T>A
ENST00000679686.1:n.4971T>A
ENST00000679701.1:n.7849T>A
ENST00000679916.1:c.*1205T>A	ENSP00000506172.1:n.*1205T>A
ENST00000680000.1:c.4857T>A	ENSP00000506173.1:p.Ser1619=
ENST00000680135.1:c.*2818T>A	ENSP00000506211.1:n.*2818T>A
ENST00000680149.1:c.*139T>A	ENSP00000506497.1:n.*139T>A
ENST00000680163.1:c.4857T>A	ENSP00000505092.1:p.Ser1619=
ENST00000680174.1:n.5548T>A
ENST00000680236.1:c.*1918T>A	ENSP00000506212.1:n.*1918T>A
ENST00000680404.1:n.372T>A
ENST00000680441.1:n.3415T>A
ENST00000680497.1:c.4959T>A	ENSP00000505954.1:p.Ser1653=
ENST00000680508.1:c.*13T>A	ENSP00000505749.1:n.*13T>A
ENST00000680569.1:c.*2800T>A	ENSP00000505522.1:n.*2800T>A
ENST00000680634.1:n.1365T>A
ENST00000680722.1:n.2657T>A
ENST00000680726.1:c.*139T>A	ENSP00000505505.1:n.*139T>A
ENST00000680759.1:c.4689T>A	ENSP00000505848.1:p.Ser1563=
ENST00000680814.1:c.4838+254T>A	ENSP00000505710.1:n.4838+254T>A
ENST00000680828.1:c.*2551T>A	ENSP00000505249.1:n.*2551T>A
ENST00000680861.1:c.4857T>A	ENSP00000505043.1:p.Ser1619=
ENST00000680927.1:c.*1037T>A	ENSP00000505473.1:n.*1037T>A
ENST00000680939.1:n.6798T>A
ENST00000681250.1:c.*1574T>A	ENSP00000505684.1:n.*1574T>A
ENST00000681256.1:c.*2872T>A	ENSP00000505446.1:n.*2872T>A
ENST00000681279.1:n.5723T>A
ENST00000681307.1:n.5970T>A
ENST00000681461.1:n.5625T>A
ENST00000681495.1:c.2394T>A	ENSP00000506085.1:p.Ser798=
ENST00000681558.1:c.2535T>A	ENSP00000505568.1:p.Ser845=
ENST00000681619.1:c.4854T>A	ENSP00000505071.1:p.Ser1618=
ENST00000681663.1:n.1763T>A
ENST00000681692.1:n.2817T>A
ENST00000681716.1:c.*2711T>A	ENSP00000505078.1:n.*2711T>A
ENST00000681768.1:c.*2521T>A	ENSP00000506311.1:n.*2521T>A
ENST00000681808.1:c.4680T>A	ENSP00000505219.1:p.Ser1560=
ENST00000264276.10:c.4857T>A	ENSP00000264276.6:p.Ser1619=
ENST00000439495.5:c.2961T>A
NM_020919.3:c.4857T>A	NP_065970.2:p.Ser1619=
XM_005246709.2:c.4854T>A	XP_005246766.1:p.Ser1618=
XM_006712654.1:c.4857T>A	XP_006712717.1:p.Ser1619=
XM_006712655.2:c.2793T>A	XP_006712718.1:p.Ser931=
XM_011511530.1:c.4518T>A	XP_011509832.1:p.Ser1506=
XR_922974.1:n.5135T>A
XM_006712654.3:c.4857T>A	XP_006712717.1:p.Ser1619=
XM_006712655.3:c.2793T>A	XP_006712718.1:p.Ser931=
XM_017004569.2:c.4854T>A	XP_016860058.1:p.Ser1618=
XM_017004572.2:c.2475T>A	XP_016860061.1:p.Ser825=
XM_024453024.1:c.4518T>A	XP_024308792.1:p.Ser1506=
XM_024453025.1:c.2790T>A	XP_024308793.1:p.Ser930=
XR_001738864.2:n.4972T>A
XR_001738865.2:n.4969T>A
XR_001738866.2:n.5135T>A
XR_001738867.2:n.5132T>A
XR_002959320.1:n.4028T>A
NM_020919.4:c.4857T>A MANE Select	NP_065970.2:p.Ser1619=