Canonical Allele Identifier: CA350320416

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202568907C>A (hg19) ; chr2:g.201704184C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704184C>A , CM000664.2:g.201704184C>A	GRCh38
NC_000002.11:g.202568907C>A , CM000664.1:g.202568907C>A	GRCh37
NC_000002.10:g.202277152C>A	NCBI36
NG_008775.1:g.81989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4873G>T MANE Select	ENSP00000264276.6:p.Glu1625Ter
ENST00000439495.6:c.*1053G>T	ENSP00000403832.2:n.*1053G>T
ENST00000679409.1:c.*1578G>T	ENSP00000506531.1:n.*1578G>T
ENST00000679416.1:n.6377G>T
ENST00000679427.1:n.2544G>T
ENST00000679435.1:c.4873G>T	ENSP00000505218.1:p.Glu1625Ter
ENST00000679516.1:c.4873G>T	ENSP00000505187.1:p.Glu1625Ter
ENST00000679618.1:c.*1961G>T	ENSP00000506274.1:n.*1961G>T
ENST00000679630.1:n.6722G>T
ENST00000679635.1:n.3135G>T
ENST00000679686.1:n.4987G>T
ENST00000679701.1:n.7865G>T
ENST00000679916.1:c.*1221G>T	ENSP00000506172.1:n.*1221G>T
ENST00000680000.1:c.4873G>T	ENSP00000506173.1:p.Glu1625Ter
ENST00000680135.1:c.*2834G>T	ENSP00000506211.1:n.*2834G>T
ENST00000680149.1:c.*155G>T	ENSP00000506497.1:n.*155G>T
ENST00000680163.1:c.4873G>T	ENSP00000505092.1:p.Glu1625Ter
ENST00000680174.1:n.5564G>T
ENST00000680236.1:c.*1934G>T	ENSP00000506212.1:n.*1934G>T
ENST00000680404.1:n.388G>T
ENST00000680441.1:n.3431G>T
ENST00000680497.1:c.4975G>T	ENSP00000505954.1:p.Glu1659Ter
ENST00000680508.1:c.*29G>T	ENSP00000505749.1:n.*29G>T
ENST00000680569.1:c.*2816G>T	ENSP00000505522.1:n.*2816G>T
ENST00000680634.1:n.1381G>T
ENST00000680722.1:n.2673G>T
ENST00000680726.1:c.*155G>T	ENSP00000505505.1:n.*155G>T
ENST00000680759.1:c.4705G>T	ENSP00000505848.1:p.Glu1569Ter
ENST00000680814.1:c.4838+270G>T	ENSP00000505710.1:n.4838+270G>T
ENST00000680828.1:c.*2567G>T	ENSP00000505249.1:n.*2567G>T
ENST00000680861.1:c.4873G>T	ENSP00000505043.1:p.Glu1625Ter
ENST00000680927.1:c.*1053G>T	ENSP00000505473.1:n.*1053G>T
ENST00000680939.1:n.6814G>T
ENST00000681250.1:c.*1590G>T	ENSP00000505684.1:n.*1590G>T
ENST00000681256.1:c.*2888G>T	ENSP00000505446.1:n.*2888G>T
ENST00000681279.1:n.5739G>T
ENST00000681307.1:n.5986G>T
ENST00000681461.1:n.5641G>T
ENST00000681495.1:c.2410G>T	ENSP00000506085.1:p.Glu804Ter
ENST00000681558.1:c.2551G>T	ENSP00000505568.1:p.Glu851Ter
ENST00000681619.1:c.4870G>T	ENSP00000505071.1:p.Glu1624Ter
ENST00000681663.1:n.1779G>T
ENST00000681692.1:n.2833G>T
ENST00000681716.1:c.*2727G>T	ENSP00000505078.1:n.*2727G>T
ENST00000681768.1:c.*2537G>T	ENSP00000506311.1:n.*2537G>T
ENST00000681808.1:c.4696G>T	ENSP00000505219.1:p.Glu1566Ter
ENST00000264276.10:c.4873G>T	ENSP00000264276.6:p.Glu1625Ter
ENST00000439495.5:c.2977G>T
NM_020919.3:c.4873G>T	NP_065970.2:p.Glu1625Ter
XM_005246709.2:c.4870G>T	XP_005246766.1:p.Glu1624Ter
XM_006712654.1:c.4873G>T	XP_006712717.1:p.Glu1625Ter
XM_006712655.2:c.2809G>T	XP_006712718.1:p.Glu937Ter
XM_011511530.1:c.4534G>T	XP_011509832.1:p.Glu1512Ter
XR_922974.1:n.5151G>T
XM_006712654.3:c.4873G>T	XP_006712717.1:p.Glu1625Ter
XM_006712655.3:c.2809G>T	XP_006712718.1:p.Glu937Ter
XM_017004569.2:c.4870G>T	XP_016860058.1:p.Glu1624Ter
XM_017004572.2:c.2491G>T	XP_016860061.1:p.Glu831Ter
XM_024453024.1:c.4534G>T	XP_024308792.1:p.Glu1512Ter
XM_024453025.1:c.2806G>T	XP_024308793.1:p.Glu936Ter
XR_001738864.2:n.4988G>T
XR_001738865.2:n.4985G>T
XR_001738866.2:n.5151G>T
XR_001738867.2:n.5148G>T
XR_002959320.1:n.4044G>T
NM_020919.4:c.4873G>T MANE Select	NP_065970.2:p.Glu1625Ter