Canonical Allele Identifier: CA350320410

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568904C>T (hg19) ; chr2:g.201704181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704181C>T , CM000664.2:g.201704181C>T	GRCh38
NC_000002.11:g.202568904C>T , CM000664.1:g.202568904C>T	GRCh37
NC_000002.10:g.202277149C>T	NCBI36
NG_008775.1:g.81992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4876G>A MANE Select	ENSP00000264276.6:p.Asp1626Asn
ENST00000439495.6:c.*1056G>A	ENSP00000403832.2:n.*1056G>A
ENST00000679409.1:c.*1581G>A	ENSP00000506531.1:n.*1581G>A
ENST00000679416.1:n.6380G>A
ENST00000679427.1:n.2547G>A
ENST00000679435.1:c.4876G>A	ENSP00000505218.1:p.Asp1626Asn
ENST00000679516.1:c.4876G>A	ENSP00000505187.1:p.Asp1626Asn
ENST00000679618.1:c.*1964G>A	ENSP00000506274.1:n.*1964G>A
ENST00000679630.1:n.6725G>A
ENST00000679635.1:n.3138G>A
ENST00000679686.1:n.4990G>A
ENST00000679701.1:n.7868G>A
ENST00000679916.1:c.*1224G>A	ENSP00000506172.1:n.*1224G>A
ENST00000680000.1:c.4876G>A	ENSP00000506173.1:p.Asp1626Asn
ENST00000680135.1:c.*2837G>A	ENSP00000506211.1:n.*2837G>A
ENST00000680149.1:c.*158G>A	ENSP00000506497.1:n.*158G>A
ENST00000680163.1:c.4876G>A	ENSP00000505092.1:p.Asp1626Asn
ENST00000680174.1:n.5567G>A
ENST00000680236.1:c.*1937G>A	ENSP00000506212.1:n.*1937G>A
ENST00000680404.1:n.391G>A
ENST00000680441.1:n.3434G>A
ENST00000680497.1:c.4978G>A	ENSP00000505954.1:p.Asp1660Asn
ENST00000680508.1:c.*32G>A	ENSP00000505749.1:n.*32G>A
ENST00000680569.1:c.*2819G>A	ENSP00000505522.1:n.*2819G>A
ENST00000680634.1:n.1384G>A
ENST00000680722.1:n.2676G>A
ENST00000680726.1:c.*158G>A	ENSP00000505505.1:n.*158G>A
ENST00000680759.1:c.4708G>A	ENSP00000505848.1:p.Asp1570Asn
ENST00000680814.1:c.4838+273G>A	ENSP00000505710.1:n.4838+273G>A
ENST00000680828.1:c.*2570G>A	ENSP00000505249.1:n.*2570G>A
ENST00000680861.1:c.4876G>A	ENSP00000505043.1:p.Asp1626Asn
ENST00000680927.1:c.*1056G>A	ENSP00000505473.1:n.*1056G>A
ENST00000680939.1:n.6817G>A
ENST00000681250.1:c.*1593G>A	ENSP00000505684.1:n.*1593G>A
ENST00000681256.1:c.*2891G>A	ENSP00000505446.1:n.*2891G>A
ENST00000681279.1:n.5742G>A
ENST00000681307.1:n.5989G>A
ENST00000681461.1:n.5644G>A
ENST00000681495.1:c.2413G>A	ENSP00000506085.1:p.Asp805Asn
ENST00000681558.1:c.2554G>A	ENSP00000505568.1:p.Asp852Asn
ENST00000681619.1:c.4873G>A	ENSP00000505071.1:p.Asp1625Asn
ENST00000681663.1:n.1782G>A
ENST00000681692.1:n.2836G>A
ENST00000681716.1:c.*2730G>A	ENSP00000505078.1:n.*2730G>A
ENST00000681768.1:c.*2540G>A	ENSP00000506311.1:n.*2540G>A
ENST00000681808.1:c.4699G>A	ENSP00000505219.1:p.Asp1567Asn
ENST00000264276.10:c.4876G>A	ENSP00000264276.6:p.Asp1626Asn
ENST00000439495.5:c.2980G>A
NM_020919.3:c.4876G>A	NP_065970.2:p.Asp1626Asn
XM_005246709.2:c.4873G>A	XP_005246766.1:p.Asp1625Asn
XM_006712654.1:c.4876G>A	XP_006712717.1:p.Asp1626Asn
XM_006712655.2:c.2812G>A	XP_006712718.1:p.Asp938Asn
XM_011511530.1:c.4537G>A	XP_011509832.1:p.Asp1513Asn
XR_922974.1:n.5154G>A
XM_006712654.3:c.4876G>A	XP_006712717.1:p.Asp1626Asn
XM_006712655.3:c.2812G>A	XP_006712718.1:p.Asp938Asn
XM_017004569.2:c.4873G>A	XP_016860058.1:p.Asp1625Asn
XM_017004572.2:c.2494G>A	XP_016860061.1:p.Asp832Asn
XM_024453024.1:c.4537G>A	XP_024308792.1:p.Asp1513Asn
XM_024453025.1:c.2809G>A	XP_024308793.1:p.Asp937Asn
XR_001738864.2:n.4991G>A
XR_001738865.2:n.4988G>A
XR_001738866.2:n.5154G>A
XR_001738867.2:n.5151G>A
XR_002959320.1:n.4047G>A
NM_020919.4:c.4876G>A MANE Select	NP_065970.2:p.Asp1626Asn