Canonical Allele Identifier: CA2057454

Gene: ALS2

Linked Data

• dbSNP Id: rs779860069
• ExAC: 2:202568828 A / G
• gnomAD v2: 2-202568828-A-G
• gnomAD v4: 2-201704105-A-G
• MyVariant Identifiers: chr2:g.202568828A>G (hg19) ; chr2:g.201704105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201704105A>G , CM000664.2:g.201704105A>G	GRCh38
NC_000002.11:g.202568828A>G , CM000664.1:g.202568828A>G	GRCh37
NC_000002.10:g.202277073A>G	NCBI36
NG_008775.1:g.82068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264276.11:c.4935+17T>C MANE Select	ENSP00000264276.6:n.4935+17T>C
ENST00000439495.6:c.*1115+17T>C	ENSP00000403832.2:n.*1115+17T>C
ENST00000679409.1:c.*1657T>C	ENSP00000506531.1:n.*1657T>C
ENST00000679416.1:n.6439+17T>C
ENST00000679427.1:n.2623T>C
ENST00000679435.1:c.4935+17T>C	ENSP00000505218.1:n.4935+17T>C
ENST00000679516.1:c.4935+17T>C	ENSP00000505187.1:n.4935+17T>C
ENST00000679618.1:c.*2023+17T>C	ENSP00000506274.1:n.*2023+17T>C
ENST00000679630.1:n.6784+17T>C
ENST00000679635.1:n.3197+17T>C
ENST00000679686.1:n.5049+17T>C
ENST00000679701.1:n.7927+17T>C
ENST00000679916.1:c.*1283+17T>C	ENSP00000506172.1:n.*1283+17T>C
ENST00000680000.1:c.4952T>C	ENSP00000506173.1:p.Ile1651Thr
ENST00000680135.1:c.*2896+17T>C	ENSP00000506211.1:n.*2896+17T>C
ENST00000680149.1:c.*217+17T>C	ENSP00000506497.1:n.*217+17T>C
ENST00000680163.1:c.4935+17T>C	ENSP00000505092.1:n.4935+17T>C
ENST00000680174.1:n.5626+17T>C
ENST00000680236.1:c.*1996+17T>C	ENSP00000506212.1:n.*1996+17T>C
ENST00000680404.1:n.467T>C
ENST00000680441.1:n.3493+17T>C
ENST00000680497.1:c.5037+17T>C	ENSP00000505954.1:n.5037+17T>C
ENST00000680508.1:c.*91+17T>C	ENSP00000505749.1:n.*91+17T>C
ENST00000680569.1:c.*2878+17T>C	ENSP00000505522.1:n.*2878+17T>C
ENST00000680634.1:n.1443+17T>C
ENST00000680722.1:n.2735+17T>C
ENST00000680726.1:c.*217+17T>C	ENSP00000505505.1:n.*217+17T>C
ENST00000680759.1:c.4767+17T>C	ENSP00000505848.1:n.4767+17T>C
ENST00000680814.1:c.4838+349T>C	ENSP00000505710.1:n.4838+349T>C
ENST00000680828.1:c.*2629+17T>C	ENSP00000505249.1:n.*2629+17T>C
ENST00000680861.1:c.4935+17T>C	ENSP00000505043.1:n.4935+17T>C
ENST00000680927.1:c.*1115+17T>C	ENSP00000505473.1:n.*1115+17T>C
ENST00000680939.1:n.6893T>C
ENST00000681250.1:c.*1652+17T>C	ENSP00000505684.1:n.*1652+17T>C
ENST00000681256.1:c.*2950+17T>C	ENSP00000505446.1:n.*2950+17T>C
ENST00000681279.1:n.5801+17T>C
ENST00000681307.1:n.6048+17T>C
ENST00000681461.1:n.5703+17T>C
ENST00000681495.1:c.2472+17T>C	ENSP00000506085.1:n.2472+17T>C
ENST00000681558.1:c.2613+17T>C	ENSP00000505568.1:n.2613+17T>C
ENST00000681619.1:c.4932+17T>C	ENSP00000505071.1:n.4932+17T>C
ENST00000681663.1:n.1841+17T>C
ENST00000681692.1:n.2895+17T>C
ENST00000681716.1:c.*2789+17T>C	ENSP00000505078.1:n.*2789+17T>C
ENST00000681768.1:c.*2599+17T>C	ENSP00000506311.1:n.*2599+17T>C
ENST00000681808.1:c.4758+17T>C	ENSP00000505219.1:n.4758+17T>C
ENST00000264276.10:c.4935+17T>C	ENSP00000264276.6:n.4935+17T>C
ENST00000439495.5:c.3039+17T>C
NM_020919.3:c.4935+17T>C	NP_065970.2:n.4935+17T>C
XM_005246709.2:c.4932+17T>C	XP_005246766.1:n.4932+17T>C
XM_006712654.1:c.4935+17T>C	XP_006712717.1:n.4935+17T>C
XM_006712655.2:c.2871+17T>C	XP_006712718.1:n.2871+17T>C
XM_011511530.1:c.4596+17T>C	XP_011509832.1:n.4596+17T>C
XR_922974.1:n.5213+17T>C
XM_006712654.3:c.4935+17T>C	XP_006712717.1:n.4935+17T>C
XM_006712655.3:c.2871+17T>C	XP_006712718.1:n.2871+17T>C
XM_017004569.2:c.4932+17T>C	XP_016860058.1:n.4932+17T>C
XM_017004572.2:c.2553+17T>C	XP_016860061.1:n.2553+17T>C
XM_024453024.1:c.4596+17T>C	XP_024308792.1:n.4596+17T>C
XM_024453025.1:c.2868+17T>C	XP_024308793.1:n.2868+17T>C
XR_001738864.2:n.5050+17T>C
XR_001738865.2:n.5047+17T>C
XR_001738866.2:n.5213+17T>C
XR_001738867.2:n.5210+17T>C
XR_002959320.1:n.4106+17T>C
NM_020919.4:c.4935+17T>C MANE Select	NP_065970.2:n.4935+17T>C