Canonical Allele Identifier: CA350321068

Gene: ALS2

Linked Data

• MyVariant Identifiers: chr2:g.202569307C>A (hg19) ; chr2:g.201704584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704584C>A , CM000664.2:g.201704584C>A	GRCh38
NC_000002.11:g.202569307C>A , CM000664.1:g.202569307C>A	GRCh37
NC_000002.10:g.202277552C>A	NCBI36
NG_008775.1:g.81589G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264276.11:c.4708G>T MANE Select	ENSP00000264276.6:p.Asp1570Tyr
ENST00000439495.6:c.*888G>T	ENSP00000403832.2:n.*888G>T
ENST00000679409.1:c.*1178G>T	ENSP00000506531.1:n.*1178G>T
ENST00000679416.1:n.6212G>T
ENST00000679427.1:n.2144G>T
ENST00000679435.1:c.4708G>T	ENSP00000505218.1:p.Asp1570Tyr
ENST00000679516.1:c.4708G>T	ENSP00000505187.1:p.Asp1570Tyr
ENST00000679618.1:c.*1796G>T	ENSP00000506274.1:n.*1796G>T
ENST00000679630.1:n.6557G>T
ENST00000679635.1:n.2735G>T
ENST00000679686.1:n.4822G>T
ENST00000679701.1:n.7700G>T
ENST00000679916.1:c.*1056G>T	ENSP00000506172.1:n.*1056G>T
ENST00000680000.1:c.4708G>T	ENSP00000506173.1:p.Asp1570Tyr
ENST00000680135.1:c.*2669G>T	ENSP00000506211.1:n.*2669G>T
ENST00000680149.1:c.4686-1G>T	ENSP00000506497.1:n.4686-1G>T
ENST00000680163.1:c.4708G>T	ENSP00000505092.1:p.Asp1570Tyr
ENST00000680174.1:n.5399G>T
ENST00000680236.1:c.*1769G>T	ENSP00000506212.1:n.*1769G>T
ENST00000680404.1:n.223G>T
ENST00000680441.1:n.3266G>T
ENST00000680497.1:c.4810G>T	ENSP00000505954.1:p.Asp1604Tyr
ENST00000680508.1:c.4705G>T	ENSP00000505749.1:p.Asp1569Tyr
ENST00000680569.1:c.*2416G>T	ENSP00000505522.1:n.*2416G>T
ENST00000680634.1:n.1216G>T
ENST00000680722.1:n.2508G>T
ENST00000680726.1:c.4689-1G>T	ENSP00000505505.1:n.4689-1G>T
ENST00000680759.1:c.4540G>T	ENSP00000505848.1:p.Asp1514Tyr
ENST00000680814.1:c.4708G>T	ENSP00000505710.1:p.Asp1570Tyr
ENST00000680828.1:c.*2402G>T	ENSP00000505249.1:n.*2402G>T
ENST00000680861.1:c.4708G>T	ENSP00000505043.1:p.Asp1570Tyr
ENST00000680927.1:c.*888G>T	ENSP00000505473.1:n.*888G>T
ENST00000680939.1:n.6415-1G>T
ENST00000681250.1:c.*1425G>T	ENSP00000505684.1:n.*1425G>T
ENST00000681256.1:c.*2723G>T	ENSP00000505446.1:n.*2723G>T
ENST00000681279.1:n.5574G>T
ENST00000681307.1:n.5821G>T
ENST00000681461.1:n.5476G>T
ENST00000681495.1:c.2245G>T	ENSP00000506085.1:p.Asp749Tyr
ENST00000681558.1:c.2386G>T	ENSP00000505568.1:p.Asp796Tyr
ENST00000681619.1:c.4705G>T	ENSP00000505071.1:p.Asp1569Tyr
ENST00000681663.1:n.1614G>T
ENST00000681692.1:n.2668G>T
ENST00000681716.1:c.*2562G>T	ENSP00000505078.1:n.*2562G>T
ENST00000681768.1:c.*2372G>T	ENSP00000506311.1:n.*2372G>T
ENST00000681808.1:c.4531G>T	ENSP00000505219.1:p.Asp1511Tyr
ENST00000264276.10:c.4708G>T	ENSP00000264276.6:p.Asp1570Tyr
ENST00000439495.5:c.2812G>T
NM_020919.3:c.4708G>T	NP_065970.2:p.Asp1570Tyr
XM_005246709.2:c.4705G>T	XP_005246766.1:p.Asp1569Tyr
XM_006712654.1:c.4708G>T	XP_006712717.1:p.Asp1570Tyr
XM_006712655.2:c.2644G>T	XP_006712718.1:p.Asp882Tyr
XM_011511530.1:c.4369G>T	XP_011509832.1:p.Asp1457Tyr
XR_922974.1:n.4986G>T
XM_006712654.3:c.4708G>T	XP_006712717.1:p.Asp1570Tyr
XM_006712655.3:c.2644G>T	XP_006712718.1:p.Asp882Tyr
XM_017004569.2:c.4705G>T	XP_016860058.1:p.Asp1569Tyr
XM_017004572.2:c.2326G>T	XP_016860061.1:p.Asp776Tyr
XM_024453024.1:c.4369G>T	XP_024308792.1:p.Asp1457Tyr
XM_024453025.1:c.2641G>T	XP_024308793.1:p.Asp881Tyr
XR_001738864.2:n.4824-1G>T
XR_001738865.2:n.4821-1G>T
XR_001738866.2:n.4986G>T
XR_001738867.2:n.4983G>T
XR_002959320.1:n.3880-1G>T
NM_020919.4:c.4708G>T MANE Select	NP_065970.2:p.Asp1570Tyr