Canonical Allele Identifier: CA350319425

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202588131A>T (hg19) ; chr2:g.201723408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201723408A>T , CM000664.2:g.201723408A>T	GRCh38
NC_000002.11:g.202588131A>T , CM000664.1:g.202588131A>T	GRCh37
NC_000002.10:g.202296376A>T	NCBI36
NG_008775.1:g.62765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.3546T>A MANE Select	ENSP00000264276.6:p.Asp1182Glu
ENST00000439495.6:c.1224T>A	ENSP00000403832.2:p.Asp408Glu
ENST00000482891.6:n.4314T>A
ENST00000494017.6:n.1278T>A
ENST00000679409.1:c.1224T>A	ENSP00000506531.1:p.Asp408Glu
ENST00000679416.1:n.5050T>A
ENST00000679435.1:c.3546T>A	ENSP00000505218.1:p.Asp1182Glu
ENST00000679516.1:c.3546T>A	ENSP00000505187.1:p.Asp1182Glu
ENST00000679618.1:c.*634T>A	ENSP00000506274.1:n.*634T>A
ENST00000679630.1:n.5395T>A
ENST00000679686.1:n.3660T>A
ENST00000679701.1:n.6538T>A
ENST00000679916.1:c.3546T>A	ENSP00000506172.1:p.Asp1182Glu
ENST00000680000.1:c.3546T>A	ENSP00000506173.1:p.Asp1182Glu
ENST00000680135.1:c.*1510T>A	ENSP00000506211.1:n.*1510T>A
ENST00000680149.1:c.3546T>A	ENSP00000506497.1:p.Asp1182Glu
ENST00000680163.1:c.3546T>A	ENSP00000505092.1:p.Asp1182Glu
ENST00000680174.1:n.4237T>A
ENST00000680236.1:c.*607T>A	ENSP00000506212.1:n.*607T>A
ENST00000680497.1:c.3648T>A	ENSP00000505954.1:p.Asp1216Glu
ENST00000680508.1:c.3546T>A	ENSP00000505749.1:p.Asp1182Glu
ENST00000680569.1:c.*1257T>A	ENSP00000505522.1:n.*1257T>A
ENST00000680630.1:n.3978T>A
ENST00000680634.1:n.21-2919T>A
ENST00000680722.1:n.1346T>A
ENST00000680723.1:n.4329T>A
ENST00000680726.1:c.3546T>A	ENSP00000505505.1:p.Asp1182Glu
ENST00000680737.1:n.3817T>A
ENST00000680759.1:c.3546T>A	ENSP00000505848.1:p.Asp1182Glu
ENST00000680814.1:c.3546T>A	ENSP00000505710.1:p.Asp1182Glu
ENST00000680828.1:c.*1118T>A	ENSP00000505249.1:n.*1118T>A
ENST00000680861.1:c.3546T>A	ENSP00000505043.1:p.Asp1182Glu
ENST00000680927.1:c.3546T>A	ENSP00000505473.1:p.Asp1182Glu
ENST00000680939.1:n.3888T>A
ENST00000681152.1:c.3546T>A	ENSP00000505388.1:p.Asp1182Glu
ENST00000681250.1:c.*263T>A	ENSP00000505684.1:n.*263T>A
ENST00000681256.1:c.*1564T>A	ENSP00000505446.1:n.*1564T>A
ENST00000681279.1:n.4314T>A
ENST00000681303.1:c.3546T>A	ENSP00000505576.1:p.Asp1182Glu
ENST00000681307.1:n.4659T>A
ENST00000681461.1:n.4314T>A
ENST00000681495.1:c.1086T>A	ENSP00000506085.1:p.Asp362Glu
ENST00000681558.1:c.1224T>A	ENSP00000505568.1:p.Asp408Glu
ENST00000681619.1:c.3546T>A	ENSP00000505071.1:p.Asp1182Glu
ENST00000681716.1:c.*1257T>A	ENSP00000505078.1:n.*1257T>A
ENST00000681758.1:n.3888T>A
ENST00000681768.1:c.*1210T>A	ENSP00000506311.1:n.*1210T>A
ENST00000681808.1:c.3546T>A	ENSP00000505219.1:p.Asp1182Glu
ENST00000264276.10:c.3546T>A	ENSP00000264276.6:p.Asp1182Glu
ENST00000439495.5:c.1507T>A
ENST00000482891.5:n.3686T>A
ENST00000489440.5:n.367T>A
NM_020919.3:c.3546T>A	NP_065970.2:p.Asp1182Glu
XM_005246709.2:c.3546T>A	XP_005246766.1:p.Asp1182Glu
XM_006712654.1:c.3546T>A	XP_006712717.1:p.Asp1182Glu
XM_006712655.2:c.1482T>A	XP_006712718.1:p.Asp494Glu
XM_011511530.1:c.3207T>A	XP_011509832.1:p.Asp1069Glu
XM_011511531.1:c.3546T>A	XP_011509833.1:p.Asp1182Glu
XR_922974.1:n.3681T>A
XM_006712654.3:c.3546T>A	XP_006712717.1:p.Asp1182Glu
XM_006712655.3:c.1482T>A	XP_006712718.1:p.Asp494Glu
XM_017004569.2:c.3546T>A	XP_016860058.1:p.Asp1182Glu
XM_017004570.2:c.3546T>A	XP_016860059.1:p.Asp1182Glu
XM_017004572.2:c.1164T>A	XP_016860061.1:p.Asp388Glu
XM_024453024.1:c.3207T>A	XP_024308792.1:p.Asp1069Glu
XM_024453025.1:c.1482T>A	XP_024308793.1:p.Asp494Glu
XR_001738864.2:n.3681T>A
XR_001738865.2:n.3681T>A
XR_001738866.2:n.3681T>A
XR_001738867.2:n.3681T>A
XR_002959320.1:n.2737T>A
NM_020919.4:c.3546T>A MANE Select	NP_065970.2:p.Asp1182Glu