Canonical Allele Identifier: CA350320405

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568903T>A (hg19) ; chr2:g.201704180T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704180T>A , CM000664.2:g.201704180T>A	GRCh38
NC_000002.11:g.202568903T>A , CM000664.1:g.202568903T>A	GRCh37
NC_000002.10:g.202277148T>A	NCBI36
NG_008775.1:g.81993A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4877A>T MANE Select	ENSP00000264276.6:p.Asp1626Val
ENST00000439495.6:c.*1057A>T	ENSP00000403832.2:n.*1057A>T
ENST00000679409.1:c.*1582A>T	ENSP00000506531.1:n.*1582A>T
ENST00000679416.1:n.6381A>T
ENST00000679427.1:n.2548A>T
ENST00000679435.1:c.4877A>T	ENSP00000505218.1:p.Asp1626Val
ENST00000679516.1:c.4877A>T	ENSP00000505187.1:p.Asp1626Val
ENST00000679618.1:c.*1965A>T	ENSP00000506274.1:n.*1965A>T
ENST00000679630.1:n.6726A>T
ENST00000679635.1:n.3139A>T
ENST00000679686.1:n.4991A>T
ENST00000679701.1:n.7869A>T
ENST00000679916.1:c.*1225A>T	ENSP00000506172.1:n.*1225A>T
ENST00000680000.1:c.4877A>T	ENSP00000506173.1:p.Asp1626Val
ENST00000680135.1:c.*2838A>T	ENSP00000506211.1:n.*2838A>T
ENST00000680149.1:c.*159A>T	ENSP00000506497.1:n.*159A>T
ENST00000680163.1:c.4877A>T	ENSP00000505092.1:p.Asp1626Val
ENST00000680174.1:n.5568A>T
ENST00000680236.1:c.*1938A>T	ENSP00000506212.1:n.*1938A>T
ENST00000680404.1:n.392A>T
ENST00000680441.1:n.3435A>T
ENST00000680497.1:c.4979A>T	ENSP00000505954.1:p.Asp1660Val
ENST00000680508.1:c.*33A>T	ENSP00000505749.1:n.*33A>T
ENST00000680569.1:c.*2820A>T	ENSP00000505522.1:n.*2820A>T
ENST00000680634.1:n.1385A>T
ENST00000680722.1:n.2677A>T
ENST00000680726.1:c.*159A>T	ENSP00000505505.1:n.*159A>T
ENST00000680759.1:c.4709A>T	ENSP00000505848.1:p.Asp1570Val
ENST00000680814.1:c.4838+274A>T	ENSP00000505710.1:n.4838+274A>T
ENST00000680828.1:c.*2571A>T	ENSP00000505249.1:n.*2571A>T
ENST00000680861.1:c.4877A>T	ENSP00000505043.1:p.Asp1626Val
ENST00000680927.1:c.*1057A>T	ENSP00000505473.1:n.*1057A>T
ENST00000680939.1:n.6818A>T
ENST00000681250.1:c.*1594A>T	ENSP00000505684.1:n.*1594A>T
ENST00000681256.1:c.*2892A>T	ENSP00000505446.1:n.*2892A>T
ENST00000681279.1:n.5743A>T
ENST00000681307.1:n.5990A>T
ENST00000681461.1:n.5645A>T
ENST00000681495.1:c.2414A>T	ENSP00000506085.1:p.Asp805Val
ENST00000681558.1:c.2555A>T	ENSP00000505568.1:p.Asp852Val
ENST00000681619.1:c.4874A>T	ENSP00000505071.1:p.Asp1625Val
ENST00000681663.1:n.1783A>T
ENST00000681692.1:n.2837A>T
ENST00000681716.1:c.*2731A>T	ENSP00000505078.1:n.*2731A>T
ENST00000681768.1:c.*2541A>T	ENSP00000506311.1:n.*2541A>T
ENST00000681808.1:c.4700A>T	ENSP00000505219.1:p.Asp1567Val
ENST00000264276.10:c.4877A>T	ENSP00000264276.6:p.Asp1626Val
ENST00000439495.5:c.2981A>T
NM_020919.3:c.4877A>T	NP_065970.2:p.Asp1626Val
XM_005246709.2:c.4874A>T	XP_005246766.1:p.Asp1625Val
XM_006712654.1:c.4877A>T	XP_006712717.1:p.Asp1626Val
XM_006712655.2:c.2813A>T	XP_006712718.1:p.Asp938Val
XM_011511530.1:c.4538A>T	XP_011509832.1:p.Asp1513Val
XR_922974.1:n.5155A>T
XM_006712654.3:c.4877A>T	XP_006712717.1:p.Asp1626Val
XM_006712655.3:c.2813A>T	XP_006712718.1:p.Asp938Val
XM_017004569.2:c.4874A>T	XP_016860058.1:p.Asp1625Val
XM_017004572.2:c.2495A>T	XP_016860061.1:p.Asp832Val
XM_024453024.1:c.4538A>T	XP_024308792.1:p.Asp1513Val
XM_024453025.1:c.2810A>T	XP_024308793.1:p.Asp937Val
XR_001738864.2:n.4992A>T
XR_001738865.2:n.4989A>T
XR_001738866.2:n.5155A>T
XR_001738867.2:n.5152A>T
XR_002959320.1:n.4048A>T
NM_020919.4:c.4877A>T MANE Select	NP_065970.2:p.Asp1626Val