Canonical Allele Identifier: CA63975101

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201701267C>T , CM000664.2:g.201701267C>T	GRCh38
NC_000002.11:g.202565990C>T , CM000664.1:g.202565990C>T	GRCh37
NC_000002.10:g.202274235C>T	NCBI36
NG_008775.1:g.84906G>A
NG_012654.1:g.2428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020919.4:c.*584G>A MANE Select	NP_065970.2:n.*584G>A
ENST00000264276.11:c.*584G>A MANE Select	ENSP00000264276.6:n.*584G>A
NM_020919.3:c.*584G>A	NP_065970.2:n.*584G>A
ENST00000264276.10:c.*584G>A	ENSP00000264276.6:n.*584G>A
ENST00000439495.6:c.*1738G>A	ENSP00000403832.2:n.*1738G>A
ENST00000679409.1:c.*4495G>A	ENSP00000506531.1:n.*4495G>A
ENST00000679416.1:n.7062G>A
ENST00000679427.1:n.5461G>A
ENST00000679435.1:c.*310-129G>A	ENSP00000505218.1:n.*310-129G>A
ENST00000679516.1:c.*584G>A	ENSP00000505187.1:n.*584G>A
ENST00000679618.1:c.*2646G>A	ENSP00000506274.1:n.*2646G>A
ENST00000679630.1:n.7407G>A
ENST00000679635.1:n.3820G>A
ENST00000679686.1:n.5672G>A
ENST00000679701.1:n.8550G>A
ENST00000679916.1:c.*1906G>A	ENSP00000506172.1:n.*1906G>A
ENST00000680135.1:c.*3519G>A	ENSP00000506211.1:n.*3519G>A
ENST00000680149.1:c.*840G>A	ENSP00000506497.1:n.*840G>A
ENST00000680163.1:c.*584G>A	ENSP00000505092.1:n.*584G>A
ENST00000680174.1:n.6249G>A
ENST00000680236.1:c.*2619G>A	ENSP00000506212.1:n.*2619G>A
ENST00000680404.1:n.3305G>A
ENST00000680441.1:n.4116G>A
ENST00000680497.1:c.*584G>A	ENSP00000505954.1:n.*584G>A
ENST00000680508.1:c.*714G>A	ENSP00000505749.1:n.*714G>A
ENST00000680569.1:c.*3501G>A	ENSP00000505522.1:n.*3501G>A
ENST00000680634.1:n.2066G>A
ENST00000680722.1:n.3358G>A
ENST00000680726.1:c.*840G>A	ENSP00000505505.1:n.*840G>A
ENST00000680759.1:c.*584G>A	ENSP00000505848.1:n.*584G>A
ENST00000680814.1:c.4839-129G>A	ENSP00000505710.1:n.4839-129G>A
ENST00000680828.1:c.*3252G>A	ENSP00000505249.1:n.*3252G>A
ENST00000680861.1:c.*584G>A	ENSP00000505043.1:n.*584G>A
ENST00000680927.1:c.*1738G>A	ENSP00000505473.1:n.*1738G>A
ENST00000681250.1:c.*2275G>A	ENSP00000505684.1:n.*2275G>A
ENST00000681256.1:c.*3573G>A	ENSP00000505446.1:n.*3573G>A
ENST00000681279.1:n.6424G>A
ENST00000681307.1:n.6671G>A
ENST00000681461.1:n.6326G>A
ENST00000681495.1:c.*584G>A	ENSP00000506085.1:n.*584G>A
ENST00000681558.1:c.*584G>A	ENSP00000505568.1:n.*584G>A
ENST00000681619.1:c.*584G>A	ENSP00000505071.1:n.*584G>A
ENST00000681663.1:n.2464G>A
ENST00000681692.1:n.3518G>A
ENST00000681716.1:c.*3412G>A	ENSP00000505078.1:n.*3412G>A
ENST00000681768.1:c.*3222G>A	ENSP00000506311.1:n.*3222G>A
ENST00000681808.1:c.*584G>A	ENSP00000505219.1:n.*584G>A
XM_005246709.2:c.*584G>A	XP_005246766.1:n.*584G>A
XM_006712654.1:c.*584G>A	XP_006712717.1:n.*584G>A
XM_006712654.3:c.*584G>A	XP_006712717.1:n.*584G>A
XM_006712655.2:c.*584G>A	XP_006712718.1:n.*584G>A
XM_006712655.3:c.*584G>A	XP_006712718.1:n.*584G>A
XM_011511530.1:c.*584G>A	XP_011509832.1:n.*584G>A
XM_017004569.2:c.*584G>A	XP_016860058.1:n.*584G>A
XM_017004572.2:c.*584G>A	XP_016860061.1:n.*584G>A
XM_024453024.1:c.*584G>A	XP_024308792.1:n.*584G>A
XM_024453025.1:c.*584G>A	XP_024308793.1:n.*584G>A
XR_001738864.2:n.5673G>A
XR_001738865.2:n.5670G>A
XR_001738866.2:n.5836G>A
XR_001738867.2:n.5833G>A
XR_002959320.1:n.4729G>A
XR_922974.1:n.5836G>A