Canonical Allele Identifier: CA350322571

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202593235C>A (hg19) ; chr2:g.201728512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201728512C>A , CM000664.2:g.201728512C>A	GRCh38
NC_000002.11:g.202593235C>A , CM000664.1:g.202593235C>A	GRCh37
NC_000002.10:g.202301480C>A	NCBI36
NG_008775.1:g.57661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.2841G>T MANE Select	ENSP00000264276.6:p.Gln947His
ENST00000439495.6:c.519G>T	ENSP00000403832.2:p.Gln173His
ENST00000482891.6:n.3183G>T
ENST00000494017.6:n.573G>T
ENST00000679409.1:c.519G>T	ENSP00000506531.1:p.Gln173His
ENST00000679416.1:n.3183G>T
ENST00000679435.1:c.2841G>T	ENSP00000505218.1:p.Gln947His
ENST00000679516.1:c.2841G>T	ENSP00000505187.1:p.Gln947His
ENST00000679618.1:c.2841G>T	ENSP00000506274.1:p.Gln947His
ENST00000679630.1:n.3183G>T
ENST00000679686.1:n.2955G>T
ENST00000679701.1:n.3183G>T
ENST00000679916.1:c.2841G>T	ENSP00000506172.1:p.Gln947His
ENST00000680000.1:c.2841G>T	ENSP00000506173.1:p.Gln947His
ENST00000680135.1:c.*805G>T	ENSP00000506211.1:n.*805G>T
ENST00000680149.1:c.2841G>T	ENSP00000506497.1:p.Gln947His
ENST00000680163.1:c.2841G>T	ENSP00000505092.1:p.Gln947His
ENST00000680174.1:n.3532G>T
ENST00000680236.1:c.2841G>T	ENSP00000506212.1:p.Gln947His
ENST00000680497.1:c.2943G>T	ENSP00000505954.1:p.Gln981His
ENST00000680508.1:c.2841G>T	ENSP00000505749.1:p.Gln947His
ENST00000680569.1:c.*552G>T	ENSP00000505522.1:n.*552G>T
ENST00000680630.1:n.3273G>T
ENST00000680634.1:n.21-8023G>T
ENST00000680722.1:n.641G>T
ENST00000680723.1:n.974G>T
ENST00000680726.1:c.2841G>T	ENSP00000505505.1:p.Gln947His
ENST00000680737.1:n.3183G>T
ENST00000680759.1:c.2841G>T	ENSP00000505848.1:p.Gln947His
ENST00000680814.1:c.2841G>T	ENSP00000505710.1:p.Gln947His
ENST00000680828.1:c.*413G>T	ENSP00000505249.1:n.*413G>T
ENST00000680861.1:c.2841G>T	ENSP00000505043.1:p.Gln947His
ENST00000680927.1:c.2841G>T	ENSP00000505473.1:p.Gln947His
ENST00000680939.1:n.3183G>T
ENST00000681152.1:c.2841G>T	ENSP00000505388.1:p.Gln947His
ENST00000681250.1:c.1472-3058G>T	ENSP00000505684.1:n.1472-3058G>T
ENST00000681256.1:c.*433G>T	ENSP00000505446.1:n.*433G>T
ENST00000681279.1:n.3183G>T
ENST00000681303.1:c.2841G>T	ENSP00000505576.1:p.Gln947His
ENST00000681307.1:n.3183G>T
ENST00000681461.1:n.3183G>T
ENST00000681495.1:c.519G>T	ENSP00000506085.1:p.Gln173His
ENST00000681558.1:c.519G>T	ENSP00000505568.1:p.Gln173His
ENST00000681619.1:c.2841G>T	ENSP00000505071.1:p.Gln947His
ENST00000681716.1:c.*552G>T	ENSP00000505078.1:n.*552G>T
ENST00000681758.1:n.3183G>T
ENST00000681768.1:c.*505G>T	ENSP00000506311.1:n.*505G>T
ENST00000681808.1:c.2841G>T	ENSP00000505219.1:p.Gln947His
ENST00000264276.10:c.2841G>T	ENSP00000264276.6:p.Gln947His
ENST00000439495.5:c.802G>T
ENST00000482891.5:n.2981G>T
ENST00000494017.5:n.439G>T
NM_020919.3:c.2841G>T	NP_065970.2:p.Gln947His
XM_005246709.2:c.2841G>T	XP_005246766.1:p.Gln947His
XM_006712654.1:c.2841G>T	XP_006712717.1:p.Gln947His
XM_006712655.2:c.777G>T	XP_006712718.1:p.Gln259His
XM_011511530.1:c.2502G>T	XP_011509832.1:p.Gln834His
XM_011511531.1:c.2841G>T	XP_011509833.1:p.Gln947His
XR_922974.1:n.2976G>T
XM_006712654.3:c.2841G>T	XP_006712717.1:p.Gln947His
XM_006712655.3:c.777G>T	XP_006712718.1:p.Gln259His
XM_017004569.2:c.2841G>T	XP_016860058.1:p.Gln947His
XM_017004570.2:c.2841G>T	XP_016860059.1:p.Gln947His
XM_017004572.2:c.459G>T	XP_016860061.1:p.Gln153His
XM_024453024.1:c.2502G>T	XP_024308792.1:p.Gln834His
XM_024453025.1:c.777G>T	XP_024308793.1:p.Gln259His
XR_001738864.2:n.2976G>T
XR_001738865.2:n.2976G>T
XR_001738866.2:n.2976G>T
XR_001738867.2:n.2976G>T
XR_002959320.1:n.2032G>T
NM_020919.4:c.2841G>T MANE Select	NP_065970.2:p.Gln947His