Canonical Allele Identifier: CA350320378

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568894T>A (hg19) ; chr2:g.201704171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704171T>A , CM000664.2:g.201704171T>A	GRCh38
NC_000002.11:g.202568894T>A , CM000664.1:g.202568894T>A	GRCh37
NC_000002.10:g.202277139T>A	NCBI36
NG_008775.1:g.82002A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4886A>T MANE Select	ENSP00000264276.6:p.Asp1629Val
ENST00000439495.6:c.*1066A>T	ENSP00000403832.2:n.*1066A>T
ENST00000679409.1:c.*1591A>T	ENSP00000506531.1:n.*1591A>T
ENST00000679416.1:n.6390A>T
ENST00000679427.1:n.2557A>T
ENST00000679435.1:c.4886A>T	ENSP00000505218.1:p.Asp1629Val
ENST00000679516.1:c.4886A>T	ENSP00000505187.1:p.Asp1629Val
ENST00000679618.1:c.*1974A>T	ENSP00000506274.1:n.*1974A>T
ENST00000679630.1:n.6735A>T
ENST00000679635.1:n.3148A>T
ENST00000679686.1:n.5000A>T
ENST00000679701.1:n.7878A>T
ENST00000679916.1:c.*1234A>T	ENSP00000506172.1:n.*1234A>T
ENST00000680000.1:c.4886A>T	ENSP00000506173.1:p.Asp1629Val
ENST00000680135.1:c.*2847A>T	ENSP00000506211.1:n.*2847A>T
ENST00000680149.1:c.*168A>T	ENSP00000506497.1:n.*168A>T
ENST00000680163.1:c.4886A>T	ENSP00000505092.1:p.Asp1629Val
ENST00000680174.1:n.5577A>T
ENST00000680236.1:c.*1947A>T	ENSP00000506212.1:n.*1947A>T
ENST00000680404.1:n.401A>T
ENST00000680441.1:n.3444A>T
ENST00000680497.1:c.4988A>T	ENSP00000505954.1:p.Asp1663Val
ENST00000680508.1:c.*42A>T	ENSP00000505749.1:n.*42A>T
ENST00000680569.1:c.*2829A>T	ENSP00000505522.1:n.*2829A>T
ENST00000680634.1:n.1394A>T
ENST00000680722.1:n.2686A>T
ENST00000680726.1:c.*168A>T	ENSP00000505505.1:n.*168A>T
ENST00000680759.1:c.4718A>T	ENSP00000505848.1:p.Asp1573Val
ENST00000680814.1:c.4838+283A>T	ENSP00000505710.1:n.4838+283A>T
ENST00000680828.1:c.*2580A>T	ENSP00000505249.1:n.*2580A>T
ENST00000680861.1:c.4886A>T	ENSP00000505043.1:p.Asp1629Val
ENST00000680927.1:c.*1066A>T	ENSP00000505473.1:n.*1066A>T
ENST00000680939.1:n.6827A>T
ENST00000681250.1:c.*1603A>T	ENSP00000505684.1:n.*1603A>T
ENST00000681256.1:c.*2901A>T	ENSP00000505446.1:n.*2901A>T
ENST00000681279.1:n.5752A>T
ENST00000681307.1:n.5999A>T
ENST00000681461.1:n.5654A>T
ENST00000681495.1:c.2423A>T	ENSP00000506085.1:p.Asp808Val
ENST00000681558.1:c.2564A>T	ENSP00000505568.1:p.Asp855Val
ENST00000681619.1:c.4883A>T	ENSP00000505071.1:p.Asp1628Val
ENST00000681663.1:n.1792A>T
ENST00000681692.1:n.2846A>T
ENST00000681716.1:c.*2740A>T	ENSP00000505078.1:n.*2740A>T
ENST00000681768.1:c.*2550A>T	ENSP00000506311.1:n.*2550A>T
ENST00000681808.1:c.4709A>T	ENSP00000505219.1:p.Asp1570Val
ENST00000264276.10:c.4886A>T	ENSP00000264276.6:p.Asp1629Val
ENST00000439495.5:c.2990A>T
NM_020919.3:c.4886A>T	NP_065970.2:p.Asp1629Val
XM_005246709.2:c.4883A>T	XP_005246766.1:p.Asp1628Val
XM_006712654.1:c.4886A>T	XP_006712717.1:p.Asp1629Val
XM_006712655.2:c.2822A>T	XP_006712718.1:p.Asp941Val
XM_011511530.1:c.4547A>T	XP_011509832.1:p.Asp1516Val
XR_922974.1:n.5164A>T
XM_006712654.3:c.4886A>T	XP_006712717.1:p.Asp1629Val
XM_006712655.3:c.2822A>T	XP_006712718.1:p.Asp941Val
XM_017004569.2:c.4883A>T	XP_016860058.1:p.Asp1628Val
XM_017004572.2:c.2504A>T	XP_016860061.1:p.Asp835Val
XM_024453024.1:c.4547A>T	XP_024308792.1:p.Asp1516Val
XM_024453025.1:c.2819A>T	XP_024308793.1:p.Asp940Val
XR_001738864.2:n.5001A>T
XR_001738865.2:n.4998A>T
XR_001738866.2:n.5164A>T
XR_001738867.2:n.5161A>T
XR_002959320.1:n.4057A>T
NM_020919.4:c.4886A>T MANE Select	NP_065970.2:p.Asp1629Val