Canonical Allele Identifier: CA350321034

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569298T>A (hg19) ; chr2:g.201704575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704575T>A , CM000664.2:g.201704575T>A	GRCh38
NC_000002.11:g.202569298T>A , CM000664.1:g.202569298T>A	GRCh37
NC_000002.10:g.202277543T>A	NCBI36
NG_008775.1:g.81598A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4717A>T MANE Select	ENSP00000264276.6:p.Lys1573Ter
ENST00000439495.6:c.*897A>T	ENSP00000403832.2:n.*897A>T
ENST00000679409.1:c.*1187A>T	ENSP00000506531.1:n.*1187A>T
ENST00000679416.1:n.6221A>T
ENST00000679427.1:n.2153A>T
ENST00000679435.1:c.4717A>T	ENSP00000505218.1:p.Lys1573Ter
ENST00000679516.1:c.4717A>T	ENSP00000505187.1:p.Lys1573Ter
ENST00000679618.1:c.*1805A>T	ENSP00000506274.1:n.*1805A>T
ENST00000679630.1:n.6566A>T
ENST00000679635.1:n.2744A>T
ENST00000679686.1:n.4831A>T
ENST00000679701.1:n.7709A>T
ENST00000679916.1:c.*1065A>T	ENSP00000506172.1:n.*1065A>T
ENST00000680000.1:c.4717A>T	ENSP00000506173.1:p.Lys1573Ter
ENST00000680135.1:c.*2678A>T	ENSP00000506211.1:n.*2678A>T
ENST00000680149.1:c.4694A>T	ENSP00000506497.1:p.Ter1565Leu
ENST00000680163.1:c.4717A>T	ENSP00000505092.1:p.Lys1573Ter
ENST00000680174.1:n.5408A>T
ENST00000680236.1:c.*1778A>T	ENSP00000506212.1:n.*1778A>T
ENST00000680404.1:n.232A>T
ENST00000680441.1:n.3275A>T
ENST00000680497.1:c.4819A>T	ENSP00000505954.1:p.Lys1607Ter
ENST00000680508.1:c.4714A>T	ENSP00000505749.1:p.Lys1572Ter
ENST00000680569.1:c.*2425A>T	ENSP00000505522.1:n.*2425A>T
ENST00000680634.1:n.1225A>T
ENST00000680722.1:n.2517A>T
ENST00000680726.1:c.4697A>T	ENSP00000505505.1:p.Ter1566Leu
ENST00000680759.1:c.4549A>T	ENSP00000505848.1:p.Lys1517Ter
ENST00000680814.1:c.4717A>T	ENSP00000505710.1:p.Lys1573Ter
ENST00000680828.1:c.*2411A>T	ENSP00000505249.1:n.*2411A>T
ENST00000680861.1:c.4717A>T	ENSP00000505043.1:p.Lys1573Ter
ENST00000680927.1:c.*897A>T	ENSP00000505473.1:n.*897A>T
ENST00000680939.1:n.6423A>T
ENST00000681250.1:c.*1434A>T	ENSP00000505684.1:n.*1434A>T
ENST00000681256.1:c.*2732A>T	ENSP00000505446.1:n.*2732A>T
ENST00000681279.1:n.5583A>T
ENST00000681307.1:n.5830A>T
ENST00000681461.1:n.5485A>T
ENST00000681495.1:c.2254A>T	ENSP00000506085.1:p.Lys752Ter
ENST00000681558.1:c.2395A>T	ENSP00000505568.1:p.Lys799Ter
ENST00000681619.1:c.4714A>T	ENSP00000505071.1:p.Lys1572Ter
ENST00000681663.1:n.1623A>T
ENST00000681692.1:n.2677A>T
ENST00000681716.1:c.*2571A>T	ENSP00000505078.1:n.*2571A>T
ENST00000681768.1:c.*2381A>T	ENSP00000506311.1:n.*2381A>T
ENST00000681808.1:c.4540A>T	ENSP00000505219.1:p.Lys1514Ter
ENST00000264276.10:c.4717A>T	ENSP00000264276.6:p.Lys1573Ter
ENST00000439495.5:c.2821A>T
NM_020919.3:c.4717A>T	NP_065970.2:p.Lys1573Ter
XM_005246709.2:c.4714A>T	XP_005246766.1:p.Lys1572Ter
XM_006712654.1:c.4717A>T	XP_006712717.1:p.Lys1573Ter
XM_006712655.2:c.2653A>T	XP_006712718.1:p.Lys885Ter
XM_011511530.1:c.4378A>T	XP_011509832.1:p.Lys1460Ter
XR_922974.1:n.4995A>T
XM_006712654.3:c.4717A>T	XP_006712717.1:p.Lys1573Ter
XM_006712655.3:c.2653A>T	XP_006712718.1:p.Lys885Ter
XM_017004569.2:c.4714A>T	XP_016860058.1:p.Lys1572Ter
XM_017004572.2:c.2335A>T	XP_016860061.1:p.Lys779Ter
XM_024453024.1:c.4378A>T	XP_024308792.1:p.Lys1460Ter
XM_024453025.1:c.2650A>T	XP_024308793.1:p.Lys884Ter
XR_001738864.2:n.4832A>T
XR_001738865.2:n.4829A>T
XR_001738866.2:n.4995A>T
XR_001738867.2:n.4992A>T
XR_002959320.1:n.3888A>T
NM_020919.4:c.4717A>T MANE Select	NP_065970.2:p.Lys1573Ter