Canonical Allele Identifier: CA430667029

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568884A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704161A>T , CM000664.2:g.201704161A>T	GRCh38
NC_000002.11:g.202568884A>T , CM000664.1:g.202568884A>T	GRCh37
NC_000002.10:g.202277129A>T	NCBI36
NG_008775.1:g.82012T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4896T>A MANE Select	ENSP00000264276.6:p.Leu1632=
ENST00000439495.6:c.*1076T>A	ENSP00000403832.2:n.*1076T>A
ENST00000679409.1:c.*1601T>A	ENSP00000506531.1:n.*1601T>A
ENST00000679416.1:n.6400T>A
ENST00000679427.1:n.2567T>A
ENST00000679435.1:c.4896T>A	ENSP00000505218.1:p.Leu1632=
ENST00000679516.1:c.4896T>A	ENSP00000505187.1:p.Leu1632=
ENST00000679618.1:c.*1984T>A	ENSP00000506274.1:n.*1984T>A
ENST00000679630.1:n.6745T>A
ENST00000679635.1:n.3158T>A
ENST00000679686.1:n.5010T>A
ENST00000679701.1:n.7888T>A
ENST00000679916.1:c.*1244T>A	ENSP00000506172.1:n.*1244T>A
ENST00000680000.1:c.4896T>A	ENSP00000506173.1:p.Leu1632=
ENST00000680135.1:c.*2857T>A	ENSP00000506211.1:n.*2857T>A
ENST00000680149.1:c.*178T>A	ENSP00000506497.1:n.*178T>A
ENST00000680163.1:c.4896T>A	ENSP00000505092.1:p.Leu1632=
ENST00000680174.1:n.5587T>A
ENST00000680236.1:c.*1957T>A	ENSP00000506212.1:n.*1957T>A
ENST00000680404.1:n.411T>A
ENST00000680441.1:n.3454T>A
ENST00000680497.1:c.4998T>A	ENSP00000505954.1:p.Leu1666=
ENST00000680508.1:c.*52T>A	ENSP00000505749.1:n.*52T>A
ENST00000680569.1:c.*2839T>A	ENSP00000505522.1:n.*2839T>A
ENST00000680634.1:n.1404T>A
ENST00000680722.1:n.2696T>A
ENST00000680726.1:c.*178T>A	ENSP00000505505.1:n.*178T>A
ENST00000680759.1:c.4728T>A	ENSP00000505848.1:p.Leu1576=
ENST00000680814.1:c.4838+293T>A	ENSP00000505710.1:n.4838+293T>A
ENST00000680828.1:c.*2590T>A	ENSP00000505249.1:n.*2590T>A
ENST00000680861.1:c.4896T>A	ENSP00000505043.1:p.Leu1632=
ENST00000680927.1:c.*1076T>A	ENSP00000505473.1:n.*1076T>A
ENST00000680939.1:n.6837T>A
ENST00000681250.1:c.*1613T>A	ENSP00000505684.1:n.*1613T>A
ENST00000681256.1:c.*2911T>A	ENSP00000505446.1:n.*2911T>A
ENST00000681279.1:n.5762T>A
ENST00000681307.1:n.6009T>A
ENST00000681461.1:n.5664T>A
ENST00000681495.1:c.2433T>A	ENSP00000506085.1:p.Leu811=
ENST00000681558.1:c.2574T>A	ENSP00000505568.1:p.Leu858=
ENST00000681619.1:c.4893T>A	ENSP00000505071.1:p.Leu1631=
ENST00000681663.1:n.1802T>A
ENST00000681692.1:n.2856T>A
ENST00000681716.1:c.*2750T>A	ENSP00000505078.1:n.*2750T>A
ENST00000681768.1:c.*2560T>A	ENSP00000506311.1:n.*2560T>A
ENST00000681808.1:c.4719T>A	ENSP00000505219.1:p.Leu1573=
ENST00000264276.10:c.4896T>A	ENSP00000264276.6:p.Leu1632=
ENST00000439495.5:c.3000T>A
NM_020919.3:c.4896T>A	NP_065970.2:p.Leu1632=
XM_005246709.2:c.4893T>A	XP_005246766.1:p.Leu1631=
XM_006712654.1:c.4896T>A	XP_006712717.1:p.Leu1632=
XM_006712655.2:c.2832T>A	XP_006712718.1:p.Leu944=
XM_011511530.1:c.4557T>A	XP_011509832.1:p.Leu1519=
XR_922974.1:n.5174T>A
XM_006712654.3:c.4896T>A	XP_006712717.1:p.Leu1632=
XM_006712655.3:c.2832T>A	XP_006712718.1:p.Leu944=
XM_017004569.2:c.4893T>A	XP_016860058.1:p.Leu1631=
XM_017004572.2:c.2514T>A	XP_016860061.1:p.Leu838=
XM_024453024.1:c.4557T>A	XP_024308792.1:p.Leu1519=
XM_024453025.1:c.2829T>A	XP_024308793.1:p.Leu943=
XR_001738864.2:n.5011T>A
XR_001738865.2:n.5008T>A
XR_001738866.2:n.5174T>A
XR_001738867.2:n.5171T>A
XR_002959320.1:n.4067T>A
NM_020919.4:c.4896T>A MANE Select	NP_065970.2:p.Leu1632=