ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) - Rat Genome Database

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Gene: ALS2 (alsin Rho guanine nucleotide exchange factor ALS2) Homo sapiens
Analyze
Symbol: ALS2
Name: alsin Rho guanine nucleotide exchange factor ALS2
RGD ID: 1321241
HGNC Page HGNC
Description: Enables enzyme activator activity; protein homodimerization activity; and small GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in several processes, including positive regulation of GTPase activity; positive regulation of protein kinase activity; and regulation of endosome size. Acts upstream of or within endosome organization; lysosomal transport; and protein homooligomerization. Located in several cellular components, including centrosome; dendrite; and early endosome. Part of protein-containing complex. Implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS2, alsin Rho guanine nucleotide exchange factor; ALS2CR6; alsin; ALSJ; amyotrophic lateral sclerosis 2 (juvenile); amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2201,700,267 - 201,782,112 (-)EnsemblGRCh38hg38GRCh38
GRCh382201,700,267 - 201,781,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372202,564,990 - 202,645,656 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,273,522 - 202,353,983 (-)NCBINCBI36hg18NCBI36
Build 342202,390,782 - 202,471,244NCBI
Celera2196,316,786 - 196,398,012 (-)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2194,413,010 - 194,494,230 (-)NCBIHuRef
CHM1_12202,571,473 - 202,652,371 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellum morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the eye  (IAGP)
Achilles tendon contracture  (IAGP)
Amyotrophic lateral sclerosis  (IAGP)
Anarthria  (IAGP)
Arm dystonia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial dystonia  (IAGP)
Babinski sign  (IAGP)
Behavioral abnormality  (IAGP)
Brisk reflexes  (IAGP)
Bulbar signs  (IAGP)
Cachexia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Clonus  (IAGP)
CNS hypomyelination  (IAGP)
Cognitive impairment  (IAGP)
Contractures of the joints of the lower limbs  (IAGP)
Contractures of the joints of the upper limbs  (IAGP)
Delayed ability to walk  (IAGP)
Difficulty in tongue movements  (IAGP)
Difficulty walking  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EMG: chronic denervation signs  (IAGP)
Gait imbalance  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Global developmental delay  (IAGP)
Hand muscle atrophy  (IAGP)
Head titubation  (IAGP)
Hyperreflexia  (IAGP)
Impaired mastication  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Juvenile onset  (IAGP)
Loss of speech  (IAGP)
Lower limb spasticity  (IAGP)
Microcephaly  (IAGP)
Morphological abnormality of the corticospinal tract  (IAGP)
Motor delay  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscle weakness  (IAGP)
Neck flexor weakness  (IAGP)
Nystagmus  (IAGP)
Opisthotonus  (IAGP)
Oromandibular dystonia  (IAGP)
Pallor  (IAGP)
Parkinsonism  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Progressive  (IAGP)
Proximal muscle weakness  (IAGP)
Pseudobulbar behavioral symptoms  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Retrocollis  (IAGP)
Saccadic smooth pursuit  (IAGP)
Scoliosis  (IAGP)
Sensory neuropathy  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slow saccadic eye movements  (IAGP)
Slowly progressive  (IAGP)
Spastic diplegia  (IAGP)
Spastic dysarthria  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity of facial muscles  (IAGP)
Spasticity of pharyngeal muscles  (IAGP)
Supranuclear gaze palsy  (IAGP)
Tetraplegia  (IAGP)
Toe walking  (IAGP)
Upper limb spasticity  (IAGP)
Urinary incontinence  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:9889004   PMID:9933298   PMID:10997877   PMID:11586298   PMID:11687798   PMID:12138710   PMID:12145748   PMID:12168954   PMID:12477932   PMID:12601111   PMID:12837691  
PMID:12866199   PMID:12919135   PMID:14668431   PMID:14676054   PMID:14702039   PMID:14970233   PMID:15247254   PMID:15324660   PMID:15342556   PMID:15371724   PMID:15388334   PMID:15489334  
PMID:15579468   PMID:16049005   PMID:16085057   PMID:16249884   PMID:16670179   PMID:17239822   PMID:17353931   PMID:17698795   PMID:17955197   PMID:18523452   PMID:18810511   PMID:19023603  
PMID:19122027   PMID:20301421   PMID:20301623   PMID:20379614   PMID:21300063   PMID:21907703   PMID:23282280   PMID:23383273   PMID:24315819   PMID:24562058   PMID:24704789   PMID:25433428  
PMID:25474699   PMID:26186194   PMID:26751646   PMID:26871637   PMID:27601211   PMID:28502191   PMID:28514442   PMID:29469808   PMID:30128655   PMID:30224357   PMID:31959474   PMID:32031713  
PMID:32203420   PMID:32814053   PMID:33155358   PMID:33226137   PMID:33409823   PMID:33961781   PMID:34243065  


Genomics

Comparative Map Data
ALS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2201,700,267 - 201,782,112 (-)EnsemblGRCh38hg38GRCh38
GRCh382201,700,267 - 201,781,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372202,564,990 - 202,645,656 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,273,522 - 202,353,983 (-)NCBINCBI36hg18NCBI36
Build 342202,390,782 - 202,471,244NCBI
Celera2196,316,786 - 196,398,012 (-)NCBI
Cytogenetic Map2q33.1NCBI
HuRef2194,413,010 - 194,494,230 (-)NCBIHuRef
CHM1_12202,571,473 - 202,652,371 (-)NCBICHM1_1
Als2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,201,915 - 59,276,390 (-)NCBIGRCm39mm39
GRCm39 Ensembl159,202,085 - 59,276,390 (-)Ensembl
GRCm38159,162,756 - 59,237,231 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,162,926 - 59,237,231 (-)EnsemblGRCm38mm10GRCm38
MGSCv37159,219,600 - 59,294,075 (-)NCBIGRCm37mm9NCBIm37
MGSCv36159,107,478 - 59,181,765 (-)NCBImm8
Celera159,678,988 - 59,753,541 (-)NCBICelera
Cytogenetic Map1C1.3NCBI
Als2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2960,613,182 - 60,686,394 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl960,613,167 - 60,670,737 (-)Ensembl
Rnor_6.0965,961,361 - 66,034,396 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl965,961,346 - 66,033,871 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0965,768,594 - 65,841,938 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4957,741,679 - 57,812,652 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1957,887,443 - 57,959,517 (-)NCBI
Celera958,052,438 - 58,123,222 (-)NCBICelera
Cytogenetic Map9q31NCBI
Als2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540322,449 - 104,948 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540322,449 - 104,577 (+)NCBIChiLan1.0ChiLan1.0
ALS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B207,108,952 - 207,189,681 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B207,108,952 - 207,189,623 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B88,954,167 - 89,034,764 (-)NCBIMhudiblu_PPA_v0panPan3
ALS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13710,755,595 - 10,825,073 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3710,756,515 - 10,812,292 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3711,639,022 - 11,709,699 (-)NCBI
ROS_Cfam_1.03710,660,479 - 10,730,278 (-)NCBI
UMICH_Zoey_3.13710,641,412 - 10,711,126 (-)NCBI
UNSW_CanFamBas_1.03710,620,145 - 10,691,546 (-)NCBI
UU_Cfam_GSD_1.03710,613,682 - 10,683,474 (-)NCBI
Als2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303158,970,697 - 159,045,526 (-)NCBI
SpeTri2.0NW_004936726940,696 - 1,015,771 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15105,328,718 - 105,401,108 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115105,328,717 - 105,401,152 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ALS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11087,389,130 - 87,473,134 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040111,943,033 - 112,023,399 (+)NCBIVero_WHO_p1.0
Als2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462489974,080 - 170,565 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D2S2309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,623,390 - 202,623,583UniSTSGRCh37
Build 362202,331,635 - 202,331,828RGDNCBI36
Celera2196,375,190 - 196,375,383RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,471,403 - 194,471,600UniSTS
Marshfield Genetic Map2198.65RGD
Marshfield Genetic Map2198.65UniSTS
Genethon Genetic Map2204.6UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH92914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,646,641 - 202,646,783UniSTSGRCh37
Build 362202,354,886 - 202,355,028RGDNCBI36
Celera2196,398,758 - 196,398,900RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,494,976 - 194,495,118UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
G54487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,646,827 - 202,646,941UniSTSGRCh37
Build 362202,355,072 - 202,355,186RGDNCBI36
Celera2196,398,944 - 196,399,058RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,495,162 - 194,495,276UniSTS
SHGC-143239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,598,761 - 202,598,880UniSTSGRCh37
Build 362202,307,006 - 202,307,125RGDNCBI36
Celera2196,350,562 - 196,350,681RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,446,779 - 194,446,898UniSTS
TNG Radiation Hybrid Map2110949.0UniSTS
SHGC-79895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,628,282 - 202,628,566UniSTSGRCh37
Build 362202,336,527 - 202,336,811RGDNCBI36
Celera2196,380,082 - 196,380,366RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,476,299 - 194,476,583UniSTS
TNG Radiation Hybrid Map2111014.0UniSTS
RH12092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,565,434 - 202,565,569UniSTSGRCh37
Build 362202,273,679 - 202,273,814RGDNCBI36
Celera2196,317,234 - 196,317,369RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,413,458 - 194,413,593UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
NCBI RH Map21524.2UniSTS
G31881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,584,583 - 202,584,724UniSTSGRCh37
Build 362202,292,828 - 202,292,969RGDNCBI36
Celera2196,336,386 - 196,336,527RGD
Cytogenetic Map2q33.1UniSTS
HuRef2194,432,603 - 194,432,744UniSTS
ALS2__4284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,565,190 - 202,566,043UniSTSGRCh37
Build 362202,273,435 - 202,274,288RGDNCBI36
Celera2196,316,990 - 196,317,843RGD
HuRef2194,413,214 - 194,414,067UniSTS
G31879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,614,953 - 202,615,535UniSTSGRCh37
Celera2196,366,752 - 196,367,334UniSTS
Cytogenetic Map2q33.1UniSTS
HuRef2194,462,966 - 194,463,547UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3978
Count of miRNA genes:1243
Interacting mature miRNAs:1579
Transcripts:ENST00000264276, ENST00000409632, ENST00000410052, ENST00000439495, ENST00000457679, ENST00000462747, ENST00000467448, ENST00000482789, ENST00000482891, ENST00000483703, ENST00000489440, ENST00000494017, ENST00000496244
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 310 452 763 101 131 106 1488 350 1869 122 568 913 14 1 290 960 2
Low 2129 2411 963 523 1693 359 2868 1846 1865 297 892 700 161 914 1828 4 2
Below cutoff 128 127 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB053305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB053306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF391100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM560426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM978733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP348546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU623061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264276   ⟹   ENSP00000264276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,267 - 201,780,933 (-)Ensembl
RefSeq Acc Id: ENST00000409632   ⟹   ENSP00000386384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,531 - 201,780,905 (-)Ensembl
RefSeq Acc Id: ENST00000410052   ⟹   ENSP00000386948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,761,675 - 201,780,951 (-)Ensembl
RefSeq Acc Id: ENST00000439495   ⟹   ENSP00000403832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,739,205 (-)Ensembl
RefSeq Acc Id: ENST00000462747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,765,383 - 201,780,911 (-)Ensembl
RefSeq Acc Id: ENST00000467448   ⟹   ENSP00000429223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,457 - 201,780,956 (-)Ensembl
RefSeq Acc Id: ENST00000482789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,733,050 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000482891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,722,114 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000483703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,728,618 - 201,738,724 (-)Ensembl
RefSeq Acc Id: ENST00000489440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,716,642 - 201,726,552 (-)Ensembl
RefSeq Acc Id: ENST00000494017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,722,124 - 201,739,061 (-)Ensembl
RefSeq Acc Id: ENST00000496244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,761,403 - 201,780,956 (-)Ensembl
RefSeq Acc Id: ENST00000679409   ⟹   ENSP00000506531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,637 - 201,739,205 (-)Ensembl
RefSeq Acc Id: ENST00000679416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,594 - 201,712,548 (-)Ensembl
RefSeq Acc Id: ENST00000679435   ⟹   ENSP00000505218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,514 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679503   ⟹   ENSP00000505968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,531 - 201,769,150 (-)Ensembl
RefSeq Acc Id: ENST00000679516   ⟹   ENSP00000505187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,769,143 (-)Ensembl
RefSeq Acc Id: ENST00000679549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,740,645 - 201,750,755 (-)Ensembl
RefSeq Acc Id: ENST00000679550   ⟹   ENSP00000506193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,740,610 - 201,769,828 (-)Ensembl
RefSeq Acc Id: ENST00000679618   ⟹   ENSP00000506274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,713,139 (-)Ensembl
RefSeq Acc Id: ENST00000679686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,562 - 201,772,009 (-)Ensembl
RefSeq Acc Id: ENST00000679701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679728   ⟹   ENSP00000504981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,539 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679916   ⟹   ENSP00000506172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000679939   ⟹   ENSP00000505704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,740,610 - 201,769,162 (-)Ensembl
RefSeq Acc Id: ENST00000679949   ⟹   ENSP00000505232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,740,625 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680000   ⟹   ENSP00000506173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,701,795 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680135   ⟹   ENSP00000506211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680149   ⟹   ENSP00000506497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680163   ⟹   ENSP00000505092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,769,812 (-)Ensembl
RefSeq Acc Id: ENST00000680174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680188   ⟹   ENSP00000505665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,481 - 201,769,826 (-)Ensembl
RefSeq Acc Id: ENST00000680236   ⟹   ENSP00000506212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680287   ⟹   ENSP00000506547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,741,184 - 201,780,956 (-)Ensembl
RefSeq Acc Id: ENST00000680404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,801 - 201,704,806 (-)Ensembl
RefSeq Acc Id: ENST00000680441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,560 - 201,720,470 (-)Ensembl
RefSeq Acc Id: ENST00000680497   ⟹   ENSP00000505954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,769,143 (-)Ensembl
RefSeq Acc Id: ENST00000680508   ⟹   ENSP00000505749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680569   ⟹   ENSP00000505522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,713,343 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,739,046 (-)Ensembl
RefSeq Acc Id: ENST00000680644   ⟹   ENSP00000505738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,740,610 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,729,563 (-)Ensembl
RefSeq Acc Id: ENST00000680723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,722,124 - 201,739,219 (-)Ensembl
RefSeq Acc Id: ENST00000680726   ⟹   ENSP00000505505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,713,346 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680759   ⟹   ENSP00000505848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680814   ⟹   ENSP00000505710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,592 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,747,495 - 201,755,005 (-)Ensembl
RefSeq Acc Id: ENST00000680828   ⟹   ENSP00000505249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680861   ⟹   ENSP00000505043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,565 - 201,782,112 (-)Ensembl
RefSeq Acc Id: ENST00000680927   ⟹   ENSP00000505473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000680939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,701,790 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681144   ⟹   ENSP00000505348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,489 - 201,780,911 (-)Ensembl
RefSeq Acc Id: ENST00000681152   ⟹   ENSP00000505388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,722,058 - 201,780,878 (-)Ensembl
RefSeq Acc Id: ENST00000681250   ⟹   ENSP00000505684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681256   ⟹   ENSP00000505446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,561 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681303   ⟹   ENSP00000505576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,721,990 - 201,780,956 (-)Ensembl
RefSeq Acc Id: ENST00000681307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681312   ⟹   ENSP00000506656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,759,498 - 201,780,900 (-)Ensembl
RefSeq Acc Id: ENST00000681378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,754,129 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681495   ⟹   ENSP00000506085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,739,205 (-)Ensembl
RefSeq Acc Id: ENST00000681558   ⟹   ENSP00000505568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,739,205 (-)Ensembl
RefSeq Acc Id: ENST00000681619   ⟹   ENSP00000505071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,720,471 (-)Ensembl
RefSeq Acc Id: ENST00000681692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,713,072 (-)Ensembl
RefSeq Acc Id: ENST00000681716   ⟹   ENSP00000505078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,713,758 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681768   ⟹   ENSP00000506311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,566 - 201,781,158 (-)Ensembl
RefSeq Acc Id: ENST00000681808   ⟹   ENSP00000505219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2201,700,567 - 201,781,158 (-)Ensembl
RefSeq Acc Id: NM_001135745   ⟹   NP_001129217
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,759,452 - 201,780,933 (-)NCBI
GRCh372202,564,986 - 202,645,895 (-)NCBI
HuRef2194,413,010 - 194,494,230 (-)ENTREZGENE
CHM1_12202,630,653 - 202,652,371 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020919   ⟹   NP_065970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,267 - 201,780,933 (-)NCBI
GRCh372202,564,986 - 202,645,895 (-)ENTREZGENE
GRCh372202,564,986 - 202,645,895 (-)NCBI
Build 362202,273,522 - 202,353,983 (-)NCBI Archive
HuRef2194,413,010 - 194,494,230 (-)ENTREZGENE
CHM1_12202,571,473 - 202,652,371 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712654   ⟹   XP_006712717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,780,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712655   ⟹   XP_006712718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,757,504 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004569   ⟹   XP_016860058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,780,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004570   ⟹   XP_016860059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,713,480 - 201,780,951 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004572   ⟹   XP_016860061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,761,246 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453024   ⟹   XP_024308792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,781,153 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453025   ⟹   XP_024308793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,761,246 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738864
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,780,951 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738865
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,780,951 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738866
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,780,951 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738867
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,780,951 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959320
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,700,553 - 201,761,246 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129217 (Get FASTA)   NCBI Sequence Viewer  
  NP_065970 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712717 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712718 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860058 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860059 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860061 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308792 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308793 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29174 (Get FASTA)   NCBI Sequence Viewer  
  AAH71576 (Get FASTA)   NCBI Sequence Viewer  
  AAL14103 (Get FASTA)   NCBI Sequence Viewer  
  AAX93181 (Get FASTA)   NCBI Sequence Viewer  
  AAY15058 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34193 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34194 (Get FASTA)   NCBI Sequence Viewer  
  BAB13389 (Get FASTA)   NCBI Sequence Viewer  
  BAB14362 (Get FASTA)   NCBI Sequence Viewer  
  BAB69014 (Get FASTA)   NCBI Sequence Viewer  
  BAB69015 (Get FASTA)   NCBI Sequence Viewer  
  BAF83718 (Get FASTA)   NCBI Sequence Viewer  
  BAG51702 (Get FASTA)   NCBI Sequence Viewer  
  EAW70291 (Get FASTA)   NCBI Sequence Viewer  
  EAW70292 (Get FASTA)   NCBI Sequence Viewer  
  EAW70293 (Get FASTA)   NCBI Sequence Viewer  
  Q96Q42 (Get FASTA)   NCBI Sequence Viewer  
  SPT35673 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_065970   ⟸   NM_020919
- Peptide Label: isoform 1
- UniProtKB: Q96Q42 (UniProtKB/Swiss-Prot),   A8K4R4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129217   ⟸   NM_001135745
- Peptide Label: isoform 2
- UniProtKB: Q96Q42 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712717   ⟸   XM_006712654
- Peptide Label: isoform X1
- UniProtKB: Q96Q42 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712718   ⟸   XM_006712655
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016860058   ⟸   XM_017004569
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016860061   ⟸   XM_017004572
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016860059   ⟸   XM_017004570
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024308792   ⟸   XM_024453024
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308793   ⟸   XM_024453025
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000386948   ⟸   ENST00000410052
RefSeq Acc Id: ENSP00000403832   ⟸   ENST00000439495
RefSeq Acc Id: ENSP00000429223   ⟸   ENST00000467448
RefSeq Acc Id: ENSP00000386384   ⟸   ENST00000409632
RefSeq Acc Id: ENSP00000264276   ⟸   ENST00000264276
RefSeq Acc Id: ENSP00000505576   ⟸   ENST00000681303
RefSeq Acc Id: ENSP00000505710   ⟸   ENST00000680814
RefSeq Acc Id: ENSP00000506531   ⟸   ENST00000679409
RefSeq Acc Id: ENSP00000505505   ⟸   ENST00000680726
RefSeq Acc Id: ENSP00000505954   ⟸   ENST00000680497
RefSeq Acc Id: ENSP00000506547   ⟸   ENST00000680287
RefSeq Acc Id: ENSP00000506172   ⟸   ENST00000679916
RefSeq Acc Id: ENSP00000505522   ⟸   ENST00000680569
RefSeq Acc Id: ENSP00000506211   ⟸   ENST00000680135
RefSeq Acc Id: ENSP00000505232   ⟸   ENST00000679949
RefSeq Acc Id: ENSP00000505348   ⟸   ENST00000681144
RefSeq Acc Id: ENSP00000506497   ⟸   ENST00000680149
RefSeq Acc Id: ENSP00000505388   ⟸   ENST00000681152
RefSeq Acc Id: ENSP00000505665   ⟸   ENST00000680188
RefSeq Acc Id: ENSP00000505473   ⟸   ENST00000680927
RefSeq Acc Id: ENSP00000505071   ⟸   ENST00000681619
RefSeq Acc Id: ENSP00000505219   ⟸   ENST00000681808
RefSeq Acc Id: ENSP00000505568   ⟸   ENST00000681558
RefSeq Acc Id: ENSP00000505043   ⟸   ENST00000680861
RefSeq Acc Id: ENSP00000505968   ⟸   ENST00000679503
RefSeq Acc Id: ENSP00000505738   ⟸   ENST00000680644
RefSeq Acc Id: ENSP00000505092   ⟸   ENST00000680163
RefSeq Acc Id: ENSP00000505187   ⟸   ENST00000679516
RefSeq Acc Id: ENSP00000506193   ⟸   ENST00000679550
RefSeq Acc Id: ENSP00000505249   ⟸   ENST00000680828
RefSeq Acc Id: ENSP00000505446   ⟸   ENST00000681256
RefSeq Acc Id: ENSP00000505078   ⟸   ENST00000681716
RefSeq Acc Id: ENSP00000506085   ⟸   ENST00000681495
RefSeq Acc Id: ENSP00000505848   ⟸   ENST00000680759
RefSeq Acc Id: ENSP00000505684   ⟸   ENST00000681250
RefSeq Acc Id: ENSP00000506311   ⟸   ENST00000681768
RefSeq Acc Id: ENSP00000505704   ⟸   ENST00000679939
RefSeq Acc Id: ENSP00000505218   ⟸   ENST00000679435
RefSeq Acc Id: ENSP00000505749   ⟸   ENST00000680508
RefSeq Acc Id: ENSP00000506173   ⟸   ENST00000680000
RefSeq Acc Id: ENSP00000506212   ⟸   ENST00000680236
RefSeq Acc Id: ENSP00000506274   ⟸   ENST00000679618
RefSeq Acc Id: ENSP00000506656   ⟸   ENST00000681312
RefSeq Acc Id: ENSP00000504981   ⟸   ENST00000679728
Protein Domains
DH   PH   VPS9

Promoters
RGD ID:6862550
Promoter ID:EPDNEW_H4440
Type:single initiation site
Name:ALS2_2
Description:ALS2, alsin Rho guanine nucleotide exchange factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4441  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,772,874 - 201,772,934EPDNEW
RGD ID:6862552
Promoter ID:EPDNEW_H4441
Type:initiation region
Name:ALS2_1
Description:ALS2, alsin Rho guanine nucleotide exchange factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4440  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,780,933 - 201,780,993EPDNEW
RGD ID:6797147
Promoter ID:HG_KWN:36733
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409632,   ENST00000409666,   ENST00000410052,   NM_001135745,   OTTHUMT00000335562,   OTTHUMT00000336006,   UC002UYP.2,   UC002UYQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362202,353,766 - 202,354,982 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000547809]|not specified [RCV000518496] Chr2:201733357..201733365 [GRCh38]
Chr2:202598080..202598088 [GRCh37]
Chr2:2q33.1
benign|uncertain significance
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) single nucleotide variant not specified [RCV000516809] Chr2:201701861 [GRCh38]
Chr2:202566584 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000549260] Chr2:201746595 [GRCh38]
Chr2:202611318 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.2:c.[1825_1826insCAGTG;3529G>T] insertion Infantile-onset ascending hereditary spastic paralysis [RCV000034965]   pathogenic
NM_020919.2:c.[3565delG;62848G>C] deletion Amyotrophic lateral sclerosis type 2 [RCV000034989]   pathogenic
NM_020919.4(ALS2):c.2581-5T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000526173] Chr2:201729188 [GRCh38]
Chr2:202593911 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.468G>A (p.Ala156=) single nucleotide variant not specified [RCV000517340] Chr2:201761526 [GRCh38]
Chr2:202626249 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) single nucleotide variant not provided [RCV000521782] Chr2:201760961 [GRCh38]
Chr2:202625684 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.138del (p.Ala47fs) deletion Amyotrophic lateral sclerosis type 2, juvenile [RCV000004655] Chr2:201767266 [GRCh38]
Chr2:202631989 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000995486]|Juvenile primary lateral sclerosis [RCV000004656] Chr2:201746696..201746697 [GRCh38]
Chr2:202611419..202611420 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) microsatellite Juvenile primary lateral sclerosis [RCV000004657] Chr2:201757445..201757446 [GRCh38]
Chr2:202622168..202622169 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004658] Chr2:201723335 [GRCh38]
Chr2:202588058 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004659] Chr2:201754672 [GRCh38]
Chr2:202619395 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004660] Chr2:201733318..201733319 [GRCh38]
Chr2:202598041..202598042 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004661] Chr2:201760986..201760987 [GRCh38]
Chr2:202625709..202625710 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4721del (p.Val1574fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000004662] Chr2:201704571 [GRCh38]
Chr2:202569294 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004663] Chr2:201726854 [GRCh38]
Chr2:202591577 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.553del (p.Thr185fs) deletion Amyotrophic lateral sclerosis type 2, juvenile [RCV000004664]|Juvenile primary lateral sclerosis [RCV000995489] Chr2:201761441 [GRCh38]
Chr2:202626164 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004665]|not provided [RCV001090658] Chr2:201761524 [GRCh38]
Chr2:202626247 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.2980-2A>G single nucleotide variant Juvenile primary lateral sclerosis [RCV000004666] Chr2:201726868 [GRCh38]
Chr2:202591591 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000004667] Chr2:201744285 [GRCh38]
Chr2:202609008 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1999-2A>T single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000034887] Chr2:201744431 [GRCh38]
Chr2:202609154 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu) single nucleotide variant Juvenile primary lateral sclerosis [RCV000034964] Chr2:201754524 [GRCh38]
Chr2:202619247 [GRCh37]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1 copy number loss See cases [RCV000052606] Chr2:201537291..201896769 [GRCh38]
Chr2:202402014..202761492 [GRCh37]
Chr2:202110259..202469737 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NM_020919.3(ALS2):c.3907C>T (p.Gln1303Ter) single nucleotide variant Malignant melanoma [RCV000065360] Chr2:201715769 [GRCh38]
Chr2:202580492 [GRCh37]
Chr2:202288737 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.3(ALS2):c.3043C>T (p.Pro1015Ser) single nucleotide variant Malignant melanoma [RCV000065361] Chr2:201726803 [GRCh38]
Chr2:202591526 [GRCh37]
Chr2:202299771 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.3(ALS2):c.141C>T (p.Ala47=) single nucleotide variant Malignant melanoma [RCV000065362] Chr2:201767263 [GRCh38]
Chr2:202631986 [GRCh37]
Chr2:202340231 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.3(ALS2):c.3802C>T (p.Leu1268=) single nucleotide variant Malignant melanoma [RCV000060459] Chr2:201718111 [GRCh38]
Chr2:202582834 [GRCh37]
Chr2:202291079 [NCBI36]
Chr2:2q33.1
not provided
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001095478]|Infantile-onset ascending hereditary spastic paralysis [RCV000087053]|not provided [RCV000171328] Chr2:201728592 [GRCh38]
Chr2:202593315 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001303045] Chr2:201746679 [GRCh38]
Chr2:202611402 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) single nucleotide variant Inborn genetic diseases [RCV000190777] Chr2:201704160 [GRCh38]
Chr2:202568883 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2581-24del deletion not provided [RCV001572163] Chr2:201729207 [GRCh38]
Chr2:202593930 [GRCh37]
Chr2:2q33.1
likely benign
GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3 copy number gain See cases [RCV000134147] Chr2:201674160..202308811 [GRCh38]
Chr2:202538883..203173534 [GRCh37]
Chr2:202247128..202881779 [NCBI36]
Chr2:2q33.1
uncertain significance
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1
likely pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000162071] Chr2:201744426 [GRCh38]
Chr2:202609149 [GRCh37]
Chr2:2q33.1
pathogenic|not provided
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) duplication Amyotrophic lateral sclerosis type 2, juvenile [RCV000162072]|Infantile-onset ascending hereditary spastic paralysis [RCV001089474] Chr2:201706852..201706853 [GRCh38]
Chr2:202571575..202571576 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic|not provided
NM_020919.3(ALS2):c.-329G>A single nucleotide variant ALS2-Related Disorders [RCV000259954]|Amyotrophic Lateral Sclerosis, Recessive [RCV000317537] Chr2:201781145 [GRCh38]
Chr2:202645868 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1805G>A (p.Arg602His) single nucleotide variant ALS2-Related Disorders [RCV000336519]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000297939] Chr2:201749722 [GRCh38]
Chr2:202614445 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3625-16_3625-15del deletion ALS2-Related Disorders [RCV000407533]|Amyotrophic Lateral Sclerosis, Recessive [RCV000301154]|not provided [RCV001549975] Chr2:201723135..201723136 [GRCh38]
Chr2:202587858..202587859 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) single nucleotide variant ALS2-Related Disorders [RCV000261194]|Amyotrophic lateral sclerosis [RCV001260560]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000355910]|Hereditary spastic paraplegia [RCV000515815]|Infantile-onset ascending hereditary spastic paralysis [RCV000863616]|not provided [RCV001590976] Chr2:201726526 [GRCh38]
Chr2:202591249 [GRCh37]
Chr2:2q33.1
pathogenic|benign|uncertain significance
NM_020919.4(ALS2):c.997G>T (p.Ala333Ser) single nucleotide variant ALS2-Related Disorders [RCV000277763]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000388460] Chr2:201760997 [GRCh38]
Chr2:202625720 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.20+9A>G single nucleotide variant ALS2-Related Disorders [RCV000279639]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000341635] Chr2:201768857 [GRCh38]
Chr2:202633580 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) single nucleotide variant ALS2-Related Disorders [RCV001143535]|Infantile-onset ascending hereditary spastic paralysis [RCV000206059]|not provided [RCV001594874]|not specified [RCV000516738] Chr2:201723437 [GRCh38]
Chr2:202588160 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4004+6T>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000524821] Chr2:201715666 [GRCh38]
Chr2:202580389 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) single nucleotide variant ALS2-Related Disorders [RCV000388670]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000294407]|Infantile-onset ascending hereditary spastic paralysis [RCV001082502]|not provided [RCV000756988] Chr2:201741784 [GRCh38]
Chr2:202606507 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) single nucleotide variant ALS2-Related Disorders [RCV001142050]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000330397]|Infantile-onset ascending hereditary spastic paralysis [RCV000227758]|none provided [RCV000506968]|not provided [RCV001711641]|not specified [RCV001287973] Chr2:201761519 [GRCh38]
Chr2:202626242 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) single nucleotide variant ALS2-Related Disorders [RCV001137184]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000764355]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139424]|Infantile-onset ascending hereditary spastic paralysis [RCV001082210]|not provided [RCV000512695]|not specified [RCV000516346] Chr2:201757758 [GRCh38]
Chr2:202622481 [GRCh37]
Chr2:2q33.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) single nucleotide variant ALS2-Related Disorders [RCV001141604]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141605]|Infantile-onset ascending hereditary spastic paralysis [RCV000230667]|not provided [RCV001596997]|not specified [RCV000518222] Chr2:201704528 [GRCh38]
Chr2:202569251 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1425_1428del (p.Gly477fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV000232793] Chr2:201757445..201757448 [GRCh38]
Chr2:202622168..202622171 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.1623C>T (p.His541=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000226594] Chr2:201754520 [GRCh38]
Chr2:202619243 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000232857] Chr2:201706928 [GRCh38]
Chr2:202571651 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) single nucleotide variant ALS2-Related Disorders [RCV000377762]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000323025]|Infantile-onset ascending hereditary spastic paralysis [RCV001084529]|not provided [RCV000539511]|not specified [RCV000277866] Chr2:201710994 [GRCh38]
Chr2:202575717 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) single nucleotide variant ALS2-Related Disorders [RCV000313623]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000368212]|Infantile-onset ascending hereditary spastic paralysis [RCV000863516] Chr2:201715800 [GRCh38]
Chr2:202580523 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) single nucleotide variant ALS2-Related Disorders [RCV000382737]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000328276]|Infantile-onset ascending hereditary spastic paralysis [RCV000813075]|Peripheral axonal neuropathy [RCV000414980]|Toe walking [RCV001358657]|not provided [RCV001580056]|not specified [RCV001289224] Chr2:201733377 [GRCh38]
Chr2:202598100 [GRCh37]
Chr2:2q33.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000545112] Chr2:201757440 [GRCh38]
Chr2:202622163 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) single nucleotide variant ALS2-Related Disorders [RCV000316456]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000361538]|Infantile-onset ascending hereditary spastic paralysis [RCV000703570] Chr2:201727708 [GRCh38]
Chr2:202592431 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.1251A>G (p.Ser417=) single nucleotide variant ALS2-Related Disorders [RCV000309519]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000366368] Chr2:201757622 [GRCh38]
Chr2:202622345 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.20+7T>C single nucleotide variant ALS2-Related Disorders [RCV000399186]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000302011]|Infantile-onset ascending hereditary spastic paralysis [RCV001509594]|Juvenile primary lateral sclerosis [RCV001548882]|not provided [RCV001610719]|not specified [RCV000243518] Chr2:201768859 [GRCh38]
Chr2:202633582 [GRCh37]
Chr2:2q33.1
benign
NM_020919.3(ALS2):c.-128C>T single nucleotide variant ALS2-Related Disorders [RCV000370614]|Amyotrophic Lateral Sclerosis, Recessive [RCV000273644] Chr2:201780944 [GRCh38]
Chr2:202645667 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.*15T>G single nucleotide variant ALS2-Related Disorders [RCV000390506]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000285997] Chr2:201701836 [GRCh38]
Chr2:202566559 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) single nucleotide variant ALS2-Related Disorders [RCV000335270]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000280255]|not provided [RCV001582977] Chr2:201701746 [GRCh38]
Chr2:202566469 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.-95G>C single nucleotide variant ALS2-Related Disorders [RCV000270281]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000313725] Chr2:201780911 [GRCh38]
Chr2:202645634 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) single nucleotide variant ALS2-Related Disorders [RCV000269440]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000326864]|Infantile-onset ascending hereditary spastic paralysis [RCV001509593]|Juvenile primary lateral sclerosis [RCV001548881]|not provided [RCV000710519]|not specified [RCV000243956] Chr2:201760892 [GRCh38]
Chr2:202625615 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2842-16G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001515527]|not provided [RCV001675754]|not specified [RCV000253757] Chr2:201727791 [GRCh38]
Chr2:202592514 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1114-27A>G single nucleotide variant not provided [RCV001618462]|not specified [RCV000246510] Chr2:201757786 [GRCh38]
Chr2:202622509 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.1816-8C>T single nucleotide variant ALS2-Related Disorders [RCV000400905]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000349374]|Infantile-onset ascending hereditary spastic paralysis [RCV001087893]|not provided [RCV000710520]|not specified [RCV000251509] Chr2:201746756 [GRCh38]
Chr2:202611479 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.4004+25C>T single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549267]|Infantile-onset ascending hereditary spastic paralysis [RCV001549269]|Juvenile primary lateral sclerosis [RCV001549268]|not provided [RCV001651241]|not specified [RCV000254072] Chr2:201715647 [GRCh38]
Chr2:202580370 [GRCh37]
Chr2:2q33.1
benign
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2466G>A (p.Val822=) single nucleotide variant ALS2-Related Disorders [RCV000352784]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000288406]|Infantile-onset ascending hereditary spastic paralysis [RCV001509592]|Juvenile primary lateral sclerosis [RCV001548877]|not provided [RCV000710522]|not specified [RCV000249292] Chr2:201733390 [GRCh38]
Chr2:202598113 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) single nucleotide variant ALS2-Related Disorders [RCV000267099]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000322182]|Infantile-onset ascending hereditary spastic paralysis [RCV001510257]|not provided [RCV001636812]|not specified [RCV000254279] Chr2:201728557 [GRCh38]
Chr2:202593280 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4580+7G>A single nucleotide variant ALS2-Related Disorders [RCV000391745]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000306834]|Infantile-onset ascending hereditary spastic paralysis [RCV001509590]|Juvenile primary lateral sclerosis [RCV001549262]|none provided [RCV001282874]|not provided [RCV001660346]|not specified [RCV000242163] Chr2:201706839 [GRCh38]
Chr2:202571562 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) single nucleotide variant ALS2-Related Disorders [RCV000387223]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000281155]|Infantile-onset ascending hereditary spastic paralysis [RCV000459871]|none provided [RCV001282894]|not provided [RCV001706359]|not specified [RCV000244654] Chr2:201761714 [GRCh38]
Chr2:202626437 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4123-64G>A single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549263]|Infantile-onset ascending hereditary spastic paralysis [RCV001549265]|Juvenile primary lateral sclerosis [RCV001549264]|not provided [RCV001673194] Chr2:201710102 [GRCh38]
Chr2:202574825 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.4581-48T>C single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001549259]|Infantile-onset ascending hereditary spastic paralysis [RCV001549261]|Juvenile primary lateral sclerosis [RCV001549260]|not provided [RCV001711575]|not specified [RCV000247168] Chr2:201705509 [GRCh38]
Chr2:202570232 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.2841+48del deletion not provided [RCV001660345]|not specified [RCV000249600] Chr2:201728464 [GRCh38]
Chr2:202593187 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4004+34A>G single nucleotide variant not specified [RCV000245264] Chr2:201715638 [GRCh38]
Chr2:202580361 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.*942A>G single nucleotide variant ALS2-Related Disorders [RCV000265872]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000302547] Chr2:201700909 [GRCh38]
Chr2:202565632 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) single nucleotide variant ALS2-Related Disorders [RCV000347093]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000283291]|Infantile-onset ascending hereditary spastic paralysis [RCV001509591]|Juvenile primary lateral sclerosis [RCV001549266]|not provided [RCV000710524]|not specified [RCV000250217] Chr2:201711098 [GRCh38]
Chr2:202575821 [GRCh37]
Chr2:2q33.1
benign
NM_020919.4(ALS2):c.*912A>G single nucleotide variant ALS2-Related Disorders [RCV000366533]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000271890] Chr2:201700939 [GRCh38]
Chr2:202565662 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) single nucleotide variant ALS2-Related Disorders [RCV000276464]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000370877]|Infantile-onset ascending hereditary spastic paralysis [RCV000862055]|not provided [RCV001571366]|not specified [RCV001289226] Chr2:201707010 [GRCh38]
Chr2:202571733 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.3248+50G>A single nucleotide variant not specified [RCV000245744] Chr2:201726434 [GRCh38]
Chr2:202591157 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) single nucleotide variant ALS2-Related Disorders [RCV000398431]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000344027]|Infantile-onset ascending hereditary spastic paralysis [RCV000465089]|not provided [RCV001636813]|not specified [RCV000250738] Chr2:201715791 [GRCh38]
Chr2:202580514 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.*447G>A single nucleotide variant ALS2-Related Disorders [RCV000277935]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000333101] Chr2:201701404 [GRCh38]
Chr2:202566127 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.*1202C>T single nucleotide variant ALS2-Related Disorders [RCV000400706]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000300059] Chr2:201700649 [GRCh38]
Chr2:202565372 [GRCh37]
Chr2:2q33.1
benign|uncertain significance
NM_020919.4(ALS2):c.*1100A>G single nucleotide variant ALS2-Related Disorders [RCV000336245]|Amyotrophic Lateral Sclerosis, Recessive [RCV000408039] Chr2:201700751 [GRCh38]
Chr2:202565474 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) single nucleotide variant ALS2-Related Disorders [RCV000337836]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000373830]|not provided [RCV001590975] Chr2:201701688 [GRCh38]
Chr2:202566411 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.3930C>A (p.Gly1310=) single nucleotide variant ALS2-Related Disorders [RCV000402291]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000289092] Chr2:201715746 [GRCh38]
Chr2:202580469 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1004G>A single nucleotide variant ALS2-Related Disorders [RCV000305695]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000360466] Chr2:201700847 [GRCh38]
Chr2:202565570 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) single nucleotide variant ALS2-Related Disorders [RCV000392611]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000340981] Chr2:201701867 [GRCh38]
Chr2:202566590 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) single nucleotide variant ALS2-Related Disorders [RCV000291959]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000376765]|Infantile-onset ascending hereditary spastic paralysis [RCV000685367]|not provided [RCV001579967] Chr2:201729052 [GRCh38]
Chr2:202593775 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) single nucleotide variant ALS2-Related Disorders [RCV000407711]|Amyotrophic Lateral Sclerosis, Recessive [RCV000306041]|Infantile-onset ascending hereditary spastic paralysis [RCV000546027]|not provided [RCV001580129] Chr2:201753206 [GRCh38]
Chr2:202617929 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.*379T>A single nucleotide variant ALS2-Related Disorders [RCV000387560]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000292159] Chr2:201701472 [GRCh38]
Chr2:202566195 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.*1538C>G single nucleotide variant ALS2-Related Disorders [RCV000389144]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000343965] Chr2:201700313 [GRCh38]
Chr2:202565036 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*893C>T single nucleotide variant ALS2-Related Disorders [RCV000381762]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000326977] Chr2:201700958 [GRCh38]
Chr2:202565681 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.-93A>G single nucleotide variant ALS2-Related Disorders [RCV000310299]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000362634] Chr2:201780909 [GRCh38]
Chr2:202645632 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4581-7A>G single nucleotide variant ALS2-Related Disorders [RCV000365254]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000310484]|Infantile-onset ascending hereditary spastic paralysis [RCV000861830]|not provided [RCV001571615]|not specified [RCV001660693] Chr2:201705468 [GRCh38]
Chr2:202570191 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.3(ALS2):c.-328A>G single nucleotide variant ALS2-Related Disorders [RCV000374101]|Amyotrophic Lateral Sclerosis, Recessive [RCV000331178] Chr2:201781144 [GRCh38]
Chr2:202645867 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4404-14C>T single nucleotide variant ALS2-Related Disorders [RCV000331486]|Amyotrophic Lateral Sclerosis, Recessive [RCV000356769] Chr2:201707036 [GRCh38]
Chr2:202571759 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4366G>C (p.Gly1456Arg) single nucleotide variant ALS2-Related Disorders [RCV000261969]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000317080] Chr2:201707906 [GRCh38]
Chr2:202572629 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) single nucleotide variant ALS2-Related Disorders [RCV000358508]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000266152] Chr2:201757590 [GRCh38]
Chr2:202622313 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2675C>T (p.Thr892Ile) single nucleotide variant not provided [RCV000489470] Chr2:201729089 [GRCh38]
Chr2:202593812 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp) deletion not provided [RCV000487866] Chr2:201723355..201723357 [GRCh38]
Chr2:202588078..202588080 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1304A>T (p.Gln435Leu) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000490310] Chr2:201757569 [GRCh38]
Chr2:202622292 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) single nucleotide variant not provided [RCV000488207] Chr2:201726688 [GRCh38]
Chr2:202591411 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) single nucleotide variant not specified [RCV000517270] Chr2:201744320 [GRCh38]
Chr2:202609043 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.*1249G>A single nucleotide variant ALS2-Related Disorders [RCV000294824]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000349057] Chr2:201700602 [GRCh38]
Chr2:202565325 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1114-7A>G single nucleotide variant not specified [RCV000518093] Chr2:201757766 [GRCh38]
Chr2:202622489 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.248T>G (p.Ile83Ser) single nucleotide variant ALS2-Related Disorders [RCV000338160]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000371841] Chr2:201761746 [GRCh38]
Chr2:202626469 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4123-4T>C single nucleotide variant ALS2-Related Disorders [RCV000371766]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000286752] Chr2:201710042 [GRCh38]
Chr2:202574765 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.-31T>A single nucleotide variant ALS2-Related Disorders [RCV000400039]|Amyotrophic lateral sclerosis type 2, juvenile [RCV000340593] Chr2:201768916 [GRCh38]
Chr2:202633639 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) single nucleotide variant ALS2-Related Disorders [RCV001139426]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139425] Chr2:201760950 [GRCh38]
Chr2:202625673 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2845_2854dup (p.His952fs) duplication not provided [RCV000598800] Chr2:201727762..201727763 [GRCh38]
Chr2:202592485..202592486 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2171-4A>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000527503] Chr2:201741858 [GRCh38]
Chr2:202606581 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) single nucleotide variant ALS2-Related Disorders [RCV001139427]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001140200]|Infantile-onset ascending hereditary spastic paralysis [RCV000640990] Chr2:201760957 [GRCh38]
Chr2:202625680 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.576G>C (p.Pro192=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640996]|not provided [RCV001311978] Chr2:201761418 [GRCh38]
Chr2:202626141 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) single nucleotide variant ALS2-Related Disorders [RCV001137294]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137295]|Infantile-onset ascending hereditary spastic paralysis [RCV001089250]|not specified [RCV001644727] Chr2:201761663 [GRCh38]
Chr2:202626386 [GRCh37]
Chr2:2q33.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020919.4(ALS2):c.535C>T (p.Gln179Ter) single nucleotide variant not provided [RCV000598924] Chr2:201761459 [GRCh38]
Chr2:202626182 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) single nucleotide variant ALS2-Related Disorders [RCV001137183]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001137182]|Infantile-onset ascending hereditary spastic paralysis [RCV000530345] Chr2:201757702 [GRCh38]
Chr2:202622425 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1921C>T (p.Gln641Ter) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640989] Chr2:201746643 [GRCh38]
Chr2:202611366 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.2500A>C (p.Asn834His) single nucleotide variant not provided [RCV000415888] Chr2:201733356 [GRCh38]
Chr2:202598079 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.281T>G (p.Ile94Ser) single nucleotide variant not provided [RCV000415903] Chr2:201761713 [GRCh38]
Chr2:202626436 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) single nucleotide variant not provided [RCV000416251] Chr2:201706975 [GRCh38]
Chr2:202571698 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2171-7G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000537607] Chr2:201741861 [GRCh38]
Chr2:202606584 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV001198494]|Peripheral axonal neuropathy [RCV000415216] Chr2:201711091 [GRCh38]
Chr2:202575814 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2833C>T (p.His945Tyr) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000813724] Chr2:201728520 [GRCh38]
Chr2:202593243 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4466T>C (p.Leu1489Pro) single nucleotide variant not provided [RCV000434514] Chr2:201706960 [GRCh38]
Chr2:202571683 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.624T>G (p.Cys208Trp) single nucleotide variant not provided [RCV000418753] Chr2:201761370 [GRCh38]
Chr2:202626093 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000735438]|Inborn genetic diseases [RCV000624087]|not provided [RCV000421128] Chr2:201724392 [GRCh38]
Chr2:202589115 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_020919.4(ALS2):c.2581-1G>C single nucleotide variant not provided [RCV000426459] Chr2:201729184 [GRCh38]
Chr2:202593907 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe) single nucleotide variant not provided [RCV000420295] Chr2:201741688 [GRCh38]
Chr2:202606411 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2638C>G (p.Leu880Val) single nucleotide variant not provided [RCV000427011] Chr2:201729126 [GRCh38]
Chr2:202593849 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.368G>A (p.Cys123Tyr) single nucleotide variant not provided [RCV000430653] Chr2:201761626 [GRCh38]
Chr2:202626349 [GRCh37]
Chr2:2q33.1
likely pathogenic|uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000456215] Chr2:201711092 [GRCh38]
Chr2:202575815 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1816-1G>A single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000457236] Chr2:201746749 [GRCh38]
Chr2:202611472 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) single nucleotide variant Hereditary spastic paraplegia [RCV000515900]|Infantile-onset ascending hereditary spastic paralysis [RCV000466171]|not provided [RCV001653833] Chr2:201718167 [GRCh38]
Chr2:202582890 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000460592] Chr2:201741803 [GRCh38]
Chr2:202606526 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1977A>T (p.Pro659=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001444366]|not provided [RCV000460946] Chr2:201746587 [GRCh38]
Chr2:202611310 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV001087516]|not provided [RCV000469355] Chr2:201754565 [GRCh38]
Chr2:202619288 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000472844] Chr2:201725384 [GRCh38]
Chr2:202590107 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) single nucleotide variant ALS2-Related Disorders [RCV001143531]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143532]|Infantile-onset ascending hereditary spastic paralysis [RCV000473535]|not provided [RCV001531945]|not specified [RCV001662448] Chr2:201718172 [GRCh38]
Chr2:202582895 [GRCh37]
Chr2:2q33.1
benign|likely benign|uncertain significance
NM_020919.4(ALS2):c.735_738del (p.Glu246fs) deletion Infantile-onset ascending hereditary spastic paralysis [RCV001386854]|not provided [RCV000486714] Chr2:201761256..201761259 [GRCh38]
Chr2:202625979..202625982 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.4627-5T>C single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000554259] Chr2:201705205 [GRCh38]
Chr2:202569928 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) single nucleotide variant not provided [RCV000498320] Chr2:201715737 [GRCh38]
Chr2:202580460 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000820889]|not specified [RCV000505894] Chr2:201706931 [GRCh38]
Chr2:202571654 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000540876] Chr2:201727742 [GRCh38]
Chr2:202592465 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3486A>C (p.Gly1162=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640995] Chr2:201724321 [GRCh38]
Chr2:202589044 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3309T>C (p.His1103=) single nucleotide variant ALS2-Related Disorders [RCV001136966]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139217]|Infantile-onset ascending hereditary spastic paralysis [RCV001086810]|not provided [RCV000555606] Chr2:201725394 [GRCh38]
Chr2:202590117 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_020919.4(ALS2):c.1815+8T>G single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000560701] Chr2:201749704 [GRCh38]
Chr2:202614427 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640991] Chr2:201718128 [GRCh38]
Chr2:202582851 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) single nucleotide variant ALS2-Related Disorders [RCV001141938]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001141937]|Infantile-onset ascending hereditary spastic paralysis [RCV000557506]|not provided [RCV001553526] Chr2:201753242 [GRCh38]
Chr2:202617965 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1659A>G (p.Val553=) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000535803] Chr2:201753224 [GRCh38]
Chr2:202617947 [GRCh37]
Chr2:2q33.1
likely benign
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) single nucleotide variant ALS2-Related Disorders [RCV001143530]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001143529]|Infantile-onset ascending hereditary spastic paralysis [RCV000640987] Chr2:201715813 [GRCh38]
Chr2:202580536 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) single nucleotide variant Amyotrophic lateral sclerosis type 2, juvenile [RCV000763471]|Infantile-onset ascending hereditary spastic paralysis [RCV000640988] Chr2:201757640 [GRCh38]
Chr2:202622363 [GRCh37]
Chr2:2q33.1
pathogenic
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640992] Chr2:201761636 [GRCh38]
Chr2:202626359 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000640993] Chr2:201754543 [GRCh38]
Chr2:202619266 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) single nucleotide variant ALS2-Related Disorders [RCV001139218]|Amyotrophic lateral sclerosis type 2, juvenile [RCV001139219]|Infantile-onset ascending hereditary spastic paralysis [RCV000640994]|not provided [RCV001591429] Chr2:201726800 [GRCh38]
Chr2:202591523 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_020919.4(ALS2):c.2979+5G>A single nucleotide variant not provided [RCV000513372] Chr2:201727207 [GRCh38]
Chr2:202591930 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.3307C>A (p.His1103Asn) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000699894] Chr2:201725396 [GRCh38]
Chr2:202590119 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu) single nucleotide variant not specified [RCV000714649] Chr2:201707890 [GRCh38]
Chr2:202572613 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4435C>T (p.Pro1479Ser) single nucleotide variant Infantile-onset ascending hereditary spastic paralysis [RCV000701598] Chr2:201706991 [GRCh38]
Chr2:202571714 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala) single nucleotide variant not provided [RCV000710521] Chr2:201744330 [GRCh38]
Chr2:202609053 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile) single nucleotide variant not provided [RCV000710525] Chr2:201709990 [GRCh38]
Chr2:202574713 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_020919.4(ALS2):c.4403+4A>G sing