Canonical Allele Identifier: CA350321025

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569296C>A (hg19) ; chr2:g.201704573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704573C>A , CM000664.2:g.201704573C>A	GRCh38
NC_000002.11:g.202569296C>A , CM000664.1:g.202569296C>A	GRCh37
NC_000002.10:g.202277541C>A	NCBI36
NG_008775.1:g.81600G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4719G>T MANE Select	ENSP00000264276.6:p.Lys1573Asn
ENST00000439495.6:c.*899G>T	ENSP00000403832.2:n.*899G>T
ENST00000679409.1:c.*1189G>T	ENSP00000506531.1:n.*1189G>T
ENST00000679416.1:n.6223G>T
ENST00000679427.1:n.2155G>T
ENST00000679435.1:c.4719G>T	ENSP00000505218.1:p.Lys1573Asn
ENST00000679516.1:c.4719G>T	ENSP00000505187.1:p.Lys1573Asn
ENST00000679618.1:c.*1807G>T	ENSP00000506274.1:n.*1807G>T
ENST00000679630.1:n.6568G>T
ENST00000679635.1:n.2746G>T
ENST00000679686.1:n.4833G>T
ENST00000679701.1:n.7711G>T
ENST00000679916.1:c.*1067G>T	ENSP00000506172.1:n.*1067G>T
ENST00000680000.1:c.4719G>T	ENSP00000506173.1:p.Lys1573Asn
ENST00000680135.1:c.*2680G>T	ENSP00000506211.1:n.*2680G>T
ENST00000680149.1:c.*1G>T	ENSP00000506497.1:n.*1G>T
ENST00000680163.1:c.4719G>T	ENSP00000505092.1:p.Lys1573Asn
ENST00000680174.1:n.5410G>T
ENST00000680236.1:c.*1780G>T	ENSP00000506212.1:n.*1780G>T
ENST00000680404.1:n.234G>T
ENST00000680441.1:n.3277G>T
ENST00000680497.1:c.4821G>T	ENSP00000505954.1:p.Lys1607Asn
ENST00000680508.1:c.4716G>T	ENSP00000505749.1:p.Lys1572Asn
ENST00000680569.1:c.*2427G>T	ENSP00000505522.1:n.*2427G>T
ENST00000680634.1:n.1227G>T
ENST00000680722.1:n.2519G>T
ENST00000680726.1:c.*1G>T	ENSP00000505505.1:n.*1G>T
ENST00000680759.1:c.4551G>T	ENSP00000505848.1:p.Lys1517Asn
ENST00000680814.1:c.4719G>T	ENSP00000505710.1:p.Lys1573Asn
ENST00000680828.1:c.*2413G>T	ENSP00000505249.1:n.*2413G>T
ENST00000680861.1:c.4719G>T	ENSP00000505043.1:p.Lys1573Asn
ENST00000680927.1:c.*899G>T	ENSP00000505473.1:n.*899G>T
ENST00000680939.1:n.6425G>T
ENST00000681250.1:c.*1436G>T	ENSP00000505684.1:n.*1436G>T
ENST00000681256.1:c.*2734G>T	ENSP00000505446.1:n.*2734G>T
ENST00000681279.1:n.5585G>T
ENST00000681307.1:n.5832G>T
ENST00000681461.1:n.5487G>T
ENST00000681495.1:c.2256G>T	ENSP00000506085.1:p.Lys752Asn
ENST00000681558.1:c.2397G>T	ENSP00000505568.1:p.Lys799Asn
ENST00000681619.1:c.4716G>T	ENSP00000505071.1:p.Lys1572Asn
ENST00000681663.1:n.1625G>T
ENST00000681692.1:n.2679G>T
ENST00000681716.1:c.*2573G>T	ENSP00000505078.1:n.*2573G>T
ENST00000681768.1:c.*2383G>T	ENSP00000506311.1:n.*2383G>T
ENST00000681808.1:c.4542G>T	ENSP00000505219.1:p.Lys1514Asn
ENST00000264276.10:c.4719G>T	ENSP00000264276.6:p.Lys1573Asn
ENST00000439495.5:c.2823G>T
NM_020919.3:c.4719G>T	NP_065970.2:p.Lys1573Asn
XM_005246709.2:c.4716G>T	XP_005246766.1:p.Lys1572Asn
XM_006712654.1:c.4719G>T	XP_006712717.1:p.Lys1573Asn
XM_006712655.2:c.2655G>T	XP_006712718.1:p.Lys885Asn
XM_011511530.1:c.4380G>T	XP_011509832.1:p.Lys1460Asn
XR_922974.1:n.4997G>T
XM_006712654.3:c.4719G>T	XP_006712717.1:p.Lys1573Asn
XM_006712655.3:c.2655G>T	XP_006712718.1:p.Lys885Asn
XM_017004569.2:c.4716G>T	XP_016860058.1:p.Lys1572Asn
XM_017004572.2:c.2337G>T	XP_016860061.1:p.Lys779Asn
XM_024453024.1:c.4380G>T	XP_024308792.1:p.Lys1460Asn
XM_024453025.1:c.2652G>T	XP_024308793.1:p.Lys884Asn
XR_001738864.2:n.4834G>T
XR_001738865.2:n.4831G>T
XR_001738866.2:n.4997G>T
XR_001738867.2:n.4994G>T
XR_002959320.1:n.3890G>T
NM_020919.4:c.4719G>T MANE Select	NP_065970.2:p.Lys1573Asn