Canonical Allele Identifier: CA350320159

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704129-G-A
• MyVariant Identifiers: chr2:g.202568852G>A (hg19) ; chr2:g.201704129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704129G>A , CM000664.2:g.201704129G>A	GRCh38
NC_000002.11:g.202568852G>A , CM000664.1:g.202568852G>A	GRCh37
NC_000002.10:g.202277097G>A	NCBI36
NG_008775.1:g.82044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4928C>T MANE Select	ENSP00000264276.6:p.Thr1643Ile
ENST00000439495.6:c.*1108C>T	ENSP00000403832.2:n.*1108C>T
ENST00000679409.1:c.*1633C>T	ENSP00000506531.1:n.*1633C>T
ENST00000679416.1:n.6432C>T
ENST00000679427.1:n.2599C>T
ENST00000679435.1:c.4928C>T	ENSP00000505218.1:p.Thr1643Ile
ENST00000679516.1:c.4928C>T	ENSP00000505187.1:p.Thr1643Ile
ENST00000679618.1:c.*2016C>T	ENSP00000506274.1:n.*2016C>T
ENST00000679630.1:n.6777C>T
ENST00000679635.1:n.3190C>T
ENST00000679686.1:n.5042C>T
ENST00000679701.1:n.7920C>T
ENST00000679916.1:c.*1276C>T	ENSP00000506172.1:n.*1276C>T
ENST00000680000.1:c.4928C>T	ENSP00000506173.1:p.Thr1643Ile
ENST00000680135.1:c.*2889C>T	ENSP00000506211.1:n.*2889C>T
ENST00000680149.1:c.*210C>T	ENSP00000506497.1:n.*210C>T
ENST00000680163.1:c.4928C>T	ENSP00000505092.1:p.Thr1643Ile
ENST00000680174.1:n.5619C>T
ENST00000680236.1:c.*1989C>T	ENSP00000506212.1:n.*1989C>T
ENST00000680404.1:n.443C>T
ENST00000680441.1:n.3486C>T
ENST00000680497.1:c.5030C>T	ENSP00000505954.1:p.Thr1677Ile
ENST00000680508.1:c.*84C>T	ENSP00000505749.1:n.*84C>T
ENST00000680569.1:c.*2871C>T	ENSP00000505522.1:n.*2871C>T
ENST00000680634.1:n.1436C>T
ENST00000680722.1:n.2728C>T
ENST00000680726.1:c.*210C>T	ENSP00000505505.1:n.*210C>T
ENST00000680759.1:c.4760C>T	ENSP00000505848.1:p.Thr1587Ile
ENST00000680814.1:c.4838+325C>T	ENSP00000505710.1:n.4838+325C>T
ENST00000680828.1:c.*2622C>T	ENSP00000505249.1:n.*2622C>T
ENST00000680861.1:c.4928C>T	ENSP00000505043.1:p.Thr1643Ile
ENST00000680927.1:c.*1108C>T	ENSP00000505473.1:n.*1108C>T
ENST00000680939.1:n.6869C>T
ENST00000681250.1:c.*1645C>T	ENSP00000505684.1:n.*1645C>T
ENST00000681256.1:c.*2943C>T	ENSP00000505446.1:n.*2943C>T
ENST00000681279.1:n.5794C>T
ENST00000681307.1:n.6041C>T
ENST00000681461.1:n.5696C>T
ENST00000681495.1:c.2465C>T	ENSP00000506085.1:p.Thr822Ile
ENST00000681558.1:c.2606C>T	ENSP00000505568.1:p.Thr869Ile
ENST00000681619.1:c.4925C>T	ENSP00000505071.1:p.Thr1642Ile
ENST00000681663.1:n.1834C>T
ENST00000681692.1:n.2888C>T
ENST00000681716.1:c.*2782C>T	ENSP00000505078.1:n.*2782C>T
ENST00000681768.1:c.*2592C>T	ENSP00000506311.1:n.*2592C>T
ENST00000681808.1:c.4751C>T	ENSP00000505219.1:p.Thr1584Ile
ENST00000264276.10:c.4928C>T	ENSP00000264276.6:p.Thr1643Ile
ENST00000439495.5:c.3032C>T
NM_020919.3:c.4928C>T	NP_065970.2:p.Thr1643Ile
XM_005246709.2:c.4925C>T	XP_005246766.1:p.Thr1642Ile
XM_006712654.1:c.4928C>T	XP_006712717.1:p.Thr1643Ile
XM_006712655.2:c.2864C>T	XP_006712718.1:p.Thr955Ile
XM_011511530.1:c.4589C>T	XP_011509832.1:p.Thr1530Ile
XR_922974.1:n.5206C>T
XM_006712654.3:c.4928C>T	XP_006712717.1:p.Thr1643Ile
XM_006712655.3:c.2864C>T	XP_006712718.1:p.Thr955Ile
XM_017004569.2:c.4925C>T	XP_016860058.1:p.Thr1642Ile
XM_017004572.2:c.2546C>T	XP_016860061.1:p.Thr849Ile
XM_024453024.1:c.4589C>T	XP_024308792.1:p.Thr1530Ile
XM_024453025.1:c.2861C>T	XP_024308793.1:p.Thr954Ile
XR_001738864.2:n.5043C>T
XR_001738865.2:n.5040C>T
XR_001738866.2:n.5206C>T
XR_001738867.2:n.5203C>T
XR_002959320.1:n.4099C>T
NM_020919.4:c.4928C>T MANE Select	NP_065970.2:p.Thr1643Ile