Canonical Allele Identifier: CA350320156

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568850A>T (hg19) ; chr2:g.201704127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704127A>T , CM000664.2:g.201704127A>T	GRCh38
NC_000002.11:g.202568850A>T , CM000664.1:g.202568850A>T	GRCh37
NC_000002.10:g.202277095A>T	NCBI36
NG_008775.1:g.82046T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4930T>A MANE Select	ENSP00000264276.6:p.Leu1644Met
ENST00000439495.6:c.*1110T>A	ENSP00000403832.2:n.*1110T>A
ENST00000679409.1:c.*1635T>A	ENSP00000506531.1:n.*1635T>A
ENST00000679416.1:n.6434T>A
ENST00000679427.1:n.2601T>A
ENST00000679435.1:c.4930T>A	ENSP00000505218.1:p.Leu1644Met
ENST00000679516.1:c.4930T>A	ENSP00000505187.1:p.Leu1644Met
ENST00000679618.1:c.*2018T>A	ENSP00000506274.1:n.*2018T>A
ENST00000679630.1:n.6779T>A
ENST00000679635.1:n.3192T>A
ENST00000679686.1:n.5044T>A
ENST00000679701.1:n.7922T>A
ENST00000679916.1:c.*1278T>A	ENSP00000506172.1:n.*1278T>A
ENST00000680000.1:c.4930T>A	ENSP00000506173.1:p.Leu1644Met
ENST00000680135.1:c.*2891T>A	ENSP00000506211.1:n.*2891T>A
ENST00000680149.1:c.*212T>A	ENSP00000506497.1:n.*212T>A
ENST00000680163.1:c.4930T>A	ENSP00000505092.1:p.Leu1644Met
ENST00000680174.1:n.5621T>A
ENST00000680236.1:c.*1991T>A	ENSP00000506212.1:n.*1991T>A
ENST00000680404.1:n.445T>A
ENST00000680441.1:n.3488T>A
ENST00000680497.1:c.5032T>A	ENSP00000505954.1:p.Leu1678Met
ENST00000680508.1:c.*86T>A	ENSP00000505749.1:n.*86T>A
ENST00000680569.1:c.*2873T>A	ENSP00000505522.1:n.*2873T>A
ENST00000680634.1:n.1438T>A
ENST00000680722.1:n.2730T>A
ENST00000680726.1:c.*212T>A	ENSP00000505505.1:n.*212T>A
ENST00000680759.1:c.4762T>A	ENSP00000505848.1:p.Leu1588Met
ENST00000680814.1:c.4838+327T>A	ENSP00000505710.1:n.4838+327T>A
ENST00000680828.1:c.*2624T>A	ENSP00000505249.1:n.*2624T>A
ENST00000680861.1:c.4930T>A	ENSP00000505043.1:p.Leu1644Met
ENST00000680927.1:c.*1110T>A	ENSP00000505473.1:n.*1110T>A
ENST00000680939.1:n.6871T>A
ENST00000681250.1:c.*1647T>A	ENSP00000505684.1:n.*1647T>A
ENST00000681256.1:c.*2945T>A	ENSP00000505446.1:n.*2945T>A
ENST00000681279.1:n.5796T>A
ENST00000681307.1:n.6043T>A
ENST00000681461.1:n.5698T>A
ENST00000681495.1:c.2467T>A	ENSP00000506085.1:p.Leu823Met
ENST00000681558.1:c.2608T>A	ENSP00000505568.1:p.Leu870Met
ENST00000681619.1:c.4927T>A	ENSP00000505071.1:p.Leu1643Met
ENST00000681663.1:n.1836T>A
ENST00000681692.1:n.2890T>A
ENST00000681716.1:c.*2784T>A	ENSP00000505078.1:n.*2784T>A
ENST00000681768.1:c.*2594T>A	ENSP00000506311.1:n.*2594T>A
ENST00000681808.1:c.4753T>A	ENSP00000505219.1:p.Leu1585Met
ENST00000264276.10:c.4930T>A	ENSP00000264276.6:p.Leu1644Met
ENST00000439495.5:c.3034T>A
NM_020919.3:c.4930T>A	NP_065970.2:p.Leu1644Met
XM_005246709.2:c.4927T>A	XP_005246766.1:p.Leu1643Met
XM_006712654.1:c.4930T>A	XP_006712717.1:p.Leu1644Met
XM_006712655.2:c.2866T>A	XP_006712718.1:p.Leu956Met
XM_011511530.1:c.4591T>A	XP_011509832.1:p.Leu1531Met
XR_922974.1:n.5208T>A
XM_006712654.3:c.4930T>A	XP_006712717.1:p.Leu1644Met
XM_006712655.3:c.2866T>A	XP_006712718.1:p.Leu956Met
XM_017004569.2:c.4927T>A	XP_016860058.1:p.Leu1643Met
XM_017004572.2:c.2548T>A	XP_016860061.1:p.Leu850Met
XM_024453024.1:c.4591T>A	XP_024308792.1:p.Leu1531Met
XM_024453025.1:c.2863T>A	XP_024308793.1:p.Leu955Met
XR_001738864.2:n.5045T>A
XR_001738865.2:n.5042T>A
XR_001738866.2:n.5208T>A
XR_001738867.2:n.5205T>A
XR_002959320.1:n.4101T>A
NM_020919.4:c.4930T>A MANE Select	NP_065970.2:p.Leu1644Met