Canonical Allele Identifier: CA430667702

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569308T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704585T>A , CM000664.2:g.201704585T>A	GRCh38
NC_000002.11:g.202569308T>A , CM000664.1:g.202569308T>A	GRCh37
NC_000002.10:g.202277553T>A	NCBI36
NG_008775.1:g.81588A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4707A>T MANE Select	ENSP00000264276.6:p.Ser1569=
ENST00000439495.6:c.*887A>T	ENSP00000403832.2:n.*887A>T
ENST00000679409.1:c.*1177A>T	ENSP00000506531.1:n.*1177A>T
ENST00000679416.1:n.6211A>T
ENST00000679427.1:n.2143A>T
ENST00000679435.1:c.4707A>T	ENSP00000505218.1:p.Ser1569=
ENST00000679516.1:c.4707A>T	ENSP00000505187.1:p.Ser1569=
ENST00000679618.1:c.*1795A>T	ENSP00000506274.1:n.*1795A>T
ENST00000679630.1:n.6556A>T
ENST00000679635.1:n.2734A>T
ENST00000679686.1:n.4821A>T
ENST00000679701.1:n.7699A>T
ENST00000679916.1:c.*1055A>T	ENSP00000506172.1:n.*1055A>T
ENST00000680000.1:c.4707A>T	ENSP00000506173.1:p.Ser1569=
ENST00000680135.1:c.*2668A>T	ENSP00000506211.1:n.*2668A>T
ENST00000680149.1:c.4686-2A>T	ENSP00000506497.1:n.4686-2A>T
ENST00000680163.1:c.4707A>T	ENSP00000505092.1:p.Ser1569=
ENST00000680174.1:n.5398A>T
ENST00000680236.1:c.*1768A>T	ENSP00000506212.1:n.*1768A>T
ENST00000680404.1:n.222A>T
ENST00000680441.1:n.3265A>T
ENST00000680497.1:c.4809A>T	ENSP00000505954.1:p.Ser1603=
ENST00000680508.1:c.4704A>T	ENSP00000505749.1:p.Ser1568=
ENST00000680569.1:c.*2415A>T	ENSP00000505522.1:n.*2415A>T
ENST00000680634.1:n.1215A>T
ENST00000680722.1:n.2507A>T
ENST00000680726.1:c.4689-2A>T	ENSP00000505505.1:n.4689-2A>T
ENST00000680759.1:c.4539A>T	ENSP00000505848.1:p.Ser1513=
ENST00000680814.1:c.4707A>T	ENSP00000505710.1:p.Ser1569=
ENST00000680828.1:c.*2401A>T	ENSP00000505249.1:n.*2401A>T
ENST00000680861.1:c.4707A>T	ENSP00000505043.1:p.Ser1569=
ENST00000680927.1:c.*887A>T	ENSP00000505473.1:n.*887A>T
ENST00000680939.1:n.6415-2A>T
ENST00000681250.1:c.*1424A>T	ENSP00000505684.1:n.*1424A>T
ENST00000681256.1:c.*2722A>T	ENSP00000505446.1:n.*2722A>T
ENST00000681279.1:n.5573A>T
ENST00000681307.1:n.5820A>T
ENST00000681461.1:n.5475A>T
ENST00000681495.1:c.2244A>T	ENSP00000506085.1:p.Ser748=
ENST00000681558.1:c.2385A>T	ENSP00000505568.1:p.Ser795=
ENST00000681619.1:c.4704A>T	ENSP00000505071.1:p.Ser1568=
ENST00000681663.1:n.1613A>T
ENST00000681692.1:n.2667A>T
ENST00000681716.1:c.*2561A>T	ENSP00000505078.1:n.*2561A>T
ENST00000681768.1:c.*2371A>T	ENSP00000506311.1:n.*2371A>T
ENST00000681808.1:c.4530A>T	ENSP00000505219.1:p.Ser1510=
ENST00000264276.10:c.4707A>T	ENSP00000264276.6:p.Ser1569=
ENST00000439495.5:c.2811A>T
NM_020919.3:c.4707A>T	NP_065970.2:p.Ser1569=
XM_005246709.2:c.4704A>T	XP_005246766.1:p.Ser1568=
XM_006712654.1:c.4707A>T	XP_006712717.1:p.Ser1569=
XM_006712655.2:c.2643A>T	XP_006712718.1:p.Ser881=
XM_011511530.1:c.4368A>T	XP_011509832.1:p.Ser1456=
XR_922974.1:n.4985A>T
XM_006712654.3:c.4707A>T	XP_006712717.1:p.Ser1569=
XM_006712655.3:c.2643A>T	XP_006712718.1:p.Ser881=
XM_017004569.2:c.4704A>T	XP_016860058.1:p.Ser1568=
XM_017004572.2:c.2325A>T	XP_016860061.1:p.Ser775=
XM_024453024.1:c.4368A>T	XP_024308792.1:p.Ser1456=
XM_024453025.1:c.2640A>T	XP_024308793.1:p.Ser880=
XR_001738864.2:n.4824-2A>T
XR_001738865.2:n.4821-2A>T
XR_001738866.2:n.4985A>T
XR_001738867.2:n.4982A>T
XR_002959320.1:n.3880-2A>T
NM_020919.4:c.4707A>T MANE Select	NP_065970.2:p.Ser1569=