Canonical Allele Identifier: CA2753879868

Gene: ALS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704104A>T , CM000664.2:g.201704104A>T	GRCh38
NC_000002.11:g.202568827A>T , CM000664.1:g.202568827A>T	GRCh37
NC_000002.10:g.202277072A>T	NCBI36
NG_008775.1:g.82069T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4935+18T>A MANE Select	ENSP00000264276.6:n.4935+18T>A
ENST00000439495.6:c.*1115+18T>A	ENSP00000403832.2:n.*1115+18T>A
ENST00000679409.1:c.*1658T>A	ENSP00000506531.1:n.*1658T>A
ENST00000679416.1:n.6439+18T>A
ENST00000679427.1:n.2624T>A
ENST00000679435.1:c.4935+18T>A	ENSP00000505218.1:n.4935+18T>A
ENST00000679516.1:c.4935+18T>A	ENSP00000505187.1:n.4935+18T>A
ENST00000679618.1:c.*2023+18T>A	ENSP00000506274.1:n.*2023+18T>A
ENST00000679630.1:n.6784+18T>A
ENST00000679635.1:n.3197+18T>A
ENST00000679686.1:n.5049+18T>A
ENST00000679701.1:n.7927+18T>A
ENST00000679916.1:c.*1283+18T>A	ENSP00000506172.1:n.*1283+18T>A
ENST00000680000.1:c.4953T>A	ENSP00000506173.1:p.Ile1651=
ENST00000680135.1:c.*2896+18T>A	ENSP00000506211.1:n.*2896+18T>A
ENST00000680149.1:c.*217+18T>A	ENSP00000506497.1:n.*217+18T>A
ENST00000680163.1:c.4935+18T>A	ENSP00000505092.1:n.4935+18T>A
ENST00000680174.1:n.5626+18T>A
ENST00000680236.1:c.*1996+18T>A	ENSP00000506212.1:n.*1996+18T>A
ENST00000680404.1:n.468T>A
ENST00000680441.1:n.3493+18T>A
ENST00000680497.1:c.5037+18T>A	ENSP00000505954.1:n.5037+18T>A
ENST00000680508.1:c.*91+18T>A	ENSP00000505749.1:n.*91+18T>A
ENST00000680569.1:c.*2878+18T>A	ENSP00000505522.1:n.*2878+18T>A
ENST00000680634.1:n.1443+18T>A
ENST00000680722.1:n.2735+18T>A
ENST00000680726.1:c.*217+18T>A	ENSP00000505505.1:n.*217+18T>A
ENST00000680759.1:c.4767+18T>A	ENSP00000505848.1:n.4767+18T>A
ENST00000680814.1:c.4838+350T>A	ENSP00000505710.1:n.4838+350T>A
ENST00000680828.1:c.*2629+18T>A	ENSP00000505249.1:n.*2629+18T>A
ENST00000680861.1:c.4935+18T>A	ENSP00000505043.1:n.4935+18T>A
ENST00000680927.1:c.*1115+18T>A	ENSP00000505473.1:n.*1115+18T>A
ENST00000680939.1:n.6894T>A
ENST00000681250.1:c.*1652+18T>A	ENSP00000505684.1:n.*1652+18T>A
ENST00000681256.1:c.*2950+18T>A	ENSP00000505446.1:n.*2950+18T>A
ENST00000681279.1:n.5801+18T>A
ENST00000681307.1:n.6048+18T>A
ENST00000681461.1:n.5703+18T>A
ENST00000681495.1:c.2472+18T>A	ENSP00000506085.1:n.2472+18T>A
ENST00000681558.1:c.2613+18T>A	ENSP00000505568.1:n.2613+18T>A
ENST00000681619.1:c.4932+18T>A	ENSP00000505071.1:n.4932+18T>A
ENST00000681663.1:n.1841+18T>A
ENST00000681692.1:n.2895+18T>A
ENST00000681716.1:c.*2789+18T>A	ENSP00000505078.1:n.*2789+18T>A
ENST00000681768.1:c.*2599+18T>A	ENSP00000506311.1:n.*2599+18T>A
ENST00000681808.1:c.4758+18T>A	ENSP00000505219.1:n.4758+18T>A
ENST00000264276.10:c.4935+18T>A	ENSP00000264276.6:n.4935+18T>A
ENST00000439495.5:c.3039+18T>A
NM_020919.3:c.4935+18T>A	NP_065970.2:n.4935+18T>A
XM_005246709.2:c.4932+18T>A	XP_005246766.1:n.4932+18T>A
XM_006712654.1:c.4935+18T>A	XP_006712717.1:n.4935+18T>A
XM_006712655.2:c.2871+18T>A	XP_006712718.1:n.2871+18T>A
XM_011511530.1:c.4596+18T>A	XP_011509832.1:n.4596+18T>A
XR_922974.1:n.5213+18T>A
XM_006712654.3:c.4935+18T>A	XP_006712717.1:n.4935+18T>A
XM_006712655.3:c.2871+18T>A	XP_006712718.1:n.2871+18T>A
XM_017004569.2:c.4932+18T>A	XP_016860058.1:n.4932+18T>A
XM_017004572.2:c.2553+18T>A	XP_016860061.1:n.2553+18T>A
XM_024453024.1:c.4596+18T>A	XP_024308792.1:n.4596+18T>A
XM_024453025.1:c.2868+18T>A	XP_024308793.1:n.2868+18T>A
XR_001738864.2:n.5050+18T>A
XR_001738865.2:n.5047+18T>A
XR_001738866.2:n.5213+18T>A
XR_001738867.2:n.5210+18T>A
XR_002959320.1:n.4106+18T>A
NM_020919.4:c.4935+18T>A MANE Select	NP_065970.2:n.4935+18T>A