Canonical Allele Identifier: CA350320411

Gene: ALS2

Linked Data

• COSMIC: COSM1404519
• MyVariant Identifiers: chr2:g.202568905C>A (hg19) ; chr2:g.201704182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704182C>A , CM000664.2:g.201704182C>A	GRCh38
NC_000002.11:g.202568905C>A , CM000664.1:g.202568905C>A	GRCh37
NC_000002.10:g.202277150C>A	NCBI36
NG_008775.1:g.81991G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4875G>T MANE Select	ENSP00000264276.6:p.Glu1625Asp
ENST00000439495.6:c.*1055G>T	ENSP00000403832.2:n.*1055G>T
ENST00000679409.1:c.*1580G>T	ENSP00000506531.1:n.*1580G>T
ENST00000679416.1:n.6379G>T
ENST00000679427.1:n.2546G>T
ENST00000679435.1:c.4875G>T	ENSP00000505218.1:p.Glu1625Asp
ENST00000679516.1:c.4875G>T	ENSP00000505187.1:p.Glu1625Asp
ENST00000679618.1:c.*1963G>T	ENSP00000506274.1:n.*1963G>T
ENST00000679630.1:n.6724G>T
ENST00000679635.1:n.3137G>T
ENST00000679686.1:n.4989G>T
ENST00000679701.1:n.7867G>T
ENST00000679916.1:c.*1223G>T	ENSP00000506172.1:n.*1223G>T
ENST00000680000.1:c.4875G>T	ENSP00000506173.1:p.Glu1625Asp
ENST00000680135.1:c.*2836G>T	ENSP00000506211.1:n.*2836G>T
ENST00000680149.1:c.*157G>T	ENSP00000506497.1:n.*157G>T
ENST00000680163.1:c.4875G>T	ENSP00000505092.1:p.Glu1625Asp
ENST00000680174.1:n.5566G>T
ENST00000680236.1:c.*1936G>T	ENSP00000506212.1:n.*1936G>T
ENST00000680404.1:n.390G>T
ENST00000680441.1:n.3433G>T
ENST00000680497.1:c.4977G>T	ENSP00000505954.1:p.Glu1659Asp
ENST00000680508.1:c.*31G>T	ENSP00000505749.1:n.*31G>T
ENST00000680569.1:c.*2818G>T	ENSP00000505522.1:n.*2818G>T
ENST00000680634.1:n.1383G>T
ENST00000680722.1:n.2675G>T
ENST00000680726.1:c.*157G>T	ENSP00000505505.1:n.*157G>T
ENST00000680759.1:c.4707G>T	ENSP00000505848.1:p.Glu1569Asp
ENST00000680814.1:c.4838+272G>T	ENSP00000505710.1:n.4838+272G>T
ENST00000680828.1:c.*2569G>T	ENSP00000505249.1:n.*2569G>T
ENST00000680861.1:c.4875G>T	ENSP00000505043.1:p.Glu1625Asp
ENST00000680927.1:c.*1055G>T	ENSP00000505473.1:n.*1055G>T
ENST00000680939.1:n.6816G>T
ENST00000681250.1:c.*1592G>T	ENSP00000505684.1:n.*1592G>T
ENST00000681256.1:c.*2890G>T	ENSP00000505446.1:n.*2890G>T
ENST00000681279.1:n.5741G>T
ENST00000681307.1:n.5988G>T
ENST00000681461.1:n.5643G>T
ENST00000681495.1:c.2412G>T	ENSP00000506085.1:p.Glu804Asp
ENST00000681558.1:c.2553G>T	ENSP00000505568.1:p.Glu851Asp
ENST00000681619.1:c.4872G>T	ENSP00000505071.1:p.Glu1624Asp
ENST00000681663.1:n.1781G>T
ENST00000681692.1:n.2835G>T
ENST00000681716.1:c.*2729G>T	ENSP00000505078.1:n.*2729G>T
ENST00000681768.1:c.*2539G>T	ENSP00000506311.1:n.*2539G>T
ENST00000681808.1:c.4698G>T	ENSP00000505219.1:p.Glu1566Asp
ENST00000264276.10:c.4875G>T	ENSP00000264276.6:p.Glu1625Asp
ENST00000439495.5:c.2979G>T
NM_020919.3:c.4875G>T	NP_065970.2:p.Glu1625Asp
XM_005246709.2:c.4872G>T	XP_005246766.1:p.Glu1624Asp
XM_006712654.1:c.4875G>T	XP_006712717.1:p.Glu1625Asp
XM_006712655.2:c.2811G>T	XP_006712718.1:p.Glu937Asp
XM_011511530.1:c.4536G>T	XP_011509832.1:p.Glu1512Asp
XR_922974.1:n.5153G>T
XM_006712654.3:c.4875G>T	XP_006712717.1:p.Glu1625Asp
XM_006712655.3:c.2811G>T	XP_006712718.1:p.Glu937Asp
XM_017004569.2:c.4872G>T	XP_016860058.1:p.Glu1624Asp
XM_017004572.2:c.2493G>T	XP_016860061.1:p.Glu831Asp
XM_024453024.1:c.4536G>T	XP_024308792.1:p.Glu1512Asp
XM_024453025.1:c.2808G>T	XP_024308793.1:p.Glu936Asp
XR_001738864.2:n.4990G>T
XR_001738865.2:n.4987G>T
XR_001738866.2:n.5153G>T
XR_001738867.2:n.5150G>T
XR_002959320.1:n.4046G>T
NM_020919.4:c.4875G>T MANE Select	NP_065970.2:p.Glu1625Asp