Canonical Allele Identifier: CA430666980

Gene: ALS2

Linked Data

• gnomAD v4: 2-201704152-C-A
• MyVariant Identifiers: chr2:g.202568875C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704152C>A , CM000664.2:g.201704152C>A	GRCh38
NC_000002.11:g.202568875C>A , CM000664.1:g.202568875C>A	GRCh37
NC_000002.10:g.202277120C>A	NCBI36
NG_008775.1:g.82021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4905G>T MANE Select	ENSP00000264276.6:p.Gly1635=
ENST00000439495.6:c.*1085G>T	ENSP00000403832.2:n.*1085G>T
ENST00000679409.1:c.*1610G>T	ENSP00000506531.1:n.*1610G>T
ENST00000679416.1:n.6409G>T
ENST00000679427.1:n.2576G>T
ENST00000679435.1:c.4905G>T	ENSP00000505218.1:p.Gly1635=
ENST00000679516.1:c.4905G>T	ENSP00000505187.1:p.Gly1635=
ENST00000679618.1:c.*1993G>T	ENSP00000506274.1:n.*1993G>T
ENST00000679630.1:n.6754G>T
ENST00000679635.1:n.3167G>T
ENST00000679686.1:n.5019G>T
ENST00000679701.1:n.7897G>T
ENST00000679916.1:c.*1253G>T	ENSP00000506172.1:n.*1253G>T
ENST00000680000.1:c.4905G>T	ENSP00000506173.1:p.Gly1635=
ENST00000680135.1:c.*2866G>T	ENSP00000506211.1:n.*2866G>T
ENST00000680149.1:c.*187G>T	ENSP00000506497.1:n.*187G>T
ENST00000680163.1:c.4905G>T	ENSP00000505092.1:p.Gly1635=
ENST00000680174.1:n.5596G>T
ENST00000680236.1:c.*1966G>T	ENSP00000506212.1:n.*1966G>T
ENST00000680404.1:n.420G>T
ENST00000680441.1:n.3463G>T
ENST00000680497.1:c.5007G>T	ENSP00000505954.1:p.Gly1669=
ENST00000680508.1:c.*61G>T	ENSP00000505749.1:n.*61G>T
ENST00000680569.1:c.*2848G>T	ENSP00000505522.1:n.*2848G>T
ENST00000680634.1:n.1413G>T
ENST00000680722.1:n.2705G>T
ENST00000680726.1:c.*187G>T	ENSP00000505505.1:n.*187G>T
ENST00000680759.1:c.4737G>T	ENSP00000505848.1:p.Gly1579=
ENST00000680814.1:c.4838+302G>T	ENSP00000505710.1:n.4838+302G>T
ENST00000680828.1:c.*2599G>T	ENSP00000505249.1:n.*2599G>T
ENST00000680861.1:c.4905G>T	ENSP00000505043.1:p.Gly1635=
ENST00000680927.1:c.*1085G>T	ENSP00000505473.1:n.*1085G>T
ENST00000680939.1:n.6846G>T
ENST00000681250.1:c.*1622G>T	ENSP00000505684.1:n.*1622G>T
ENST00000681256.1:c.*2920G>T	ENSP00000505446.1:n.*2920G>T
ENST00000681279.1:n.5771G>T
ENST00000681307.1:n.6018G>T
ENST00000681461.1:n.5673G>T
ENST00000681495.1:c.2442G>T	ENSP00000506085.1:p.Gly814=
ENST00000681558.1:c.2583G>T	ENSP00000505568.1:p.Gly861=
ENST00000681619.1:c.4902G>T	ENSP00000505071.1:p.Gly1634=
ENST00000681663.1:n.1811G>T
ENST00000681692.1:n.2865G>T
ENST00000681716.1:c.*2759G>T	ENSP00000505078.1:n.*2759G>T
ENST00000681768.1:c.*2569G>T	ENSP00000506311.1:n.*2569G>T
ENST00000681808.1:c.4728G>T	ENSP00000505219.1:p.Gly1576=
ENST00000264276.10:c.4905G>T	ENSP00000264276.6:p.Gly1635=
ENST00000439495.5:c.3009G>T
NM_020919.3:c.4905G>T	NP_065970.2:p.Gly1635=
XM_005246709.2:c.4902G>T	XP_005246766.1:p.Gly1634=
XM_006712654.1:c.4905G>T	XP_006712717.1:p.Gly1635=
XM_006712655.2:c.2841G>T	XP_006712718.1:p.Gly947=
XM_011511530.1:c.4566G>T	XP_011509832.1:p.Gly1522=
XR_922974.1:n.5183G>T
XM_006712654.3:c.4905G>T	XP_006712717.1:p.Gly1635=
XM_006712655.3:c.2841G>T	XP_006712718.1:p.Gly947=
XM_017004569.2:c.4902G>T	XP_016860058.1:p.Gly1634=
XM_017004572.2:c.2523G>T	XP_016860061.1:p.Gly841=
XM_024453024.1:c.4566G>T	XP_024308792.1:p.Gly1522=
XM_024453025.1:c.2838G>T	XP_024308793.1:p.Gly946=
XR_001738864.2:n.5020G>T
XR_001738865.2:n.5017G>T
XR_001738866.2:n.5183G>T
XR_001738867.2:n.5180G>T
XR_002959320.1:n.4076G>T
NM_020919.4:c.4905G>T MANE Select	NP_065970.2:p.Gly1635=