MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) - Rat Genome Database

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Gene: MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) Homo sapiens
Analyze
Symbol: MGAT2
Name: alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
RGD ID: 731495
HGNC Page HGNC:7045
Description: Enables alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity; manganese ion binding activity; and protein homodimerization activity. Involved in protein N-linked glycosylation via asparagine. Located in Golgi membrane. Implicated in congenital disorder of glycosylation type IIa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Beta-1,2-N-acetylglucosaminyltransferase II; CDG2A; CDGS2; glcNAc-T II; GLCNACTII; GNT-II; GNT2; mannoside acetylglucosaminyltransferase 2; mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II; UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MGAT2P1   MGAT2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: MGAT2 (Gene ID: 4247) and MOGAT2 (Gene ID: 80168) share the MGAT2 symbol/alias in common. MGAT2 is a widely used alternative name for monoacylglycerol O-acyltransferase 2 (MOGAT2), which can be confused with the official symbol for MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase. [25 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381449,620,799 - 49,623,481 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1449,620,799 - 49,623,481 (+)EnsemblGRCh38hg38GRCh38
GRCh371450,087,517 - 50,090,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,157,239 - 49,159,949 (+)NCBINCBI36Build 36hg18NCBI36
Build 341449,157,246 - 49,159,924NCBI
Celera1429,947,307 - 29,950,017 (+)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1430,204,620 - 30,207,330 (+)NCBIHuRef
CHM1_11450,026,493 - 50,029,203 (+)NCBICHM1_1
T2T-CHM13v2.01443,819,023 - 43,821,705 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
alachlor  (ISO)
alpha-phellandrene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
aristolochic acid A  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
Benzo[ghi]perylene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butan-1-ol  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
chromium atom  (EXP)
chrysene  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP)
folic acid  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
isobutanol  (EXP)
limonene  (ISO)
lycopene  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
metformin  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (EXP)
nickel atom  (EXP)
phenobarbital  (ISO)
phenol  (EXP)
phenytoin  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetraphene  (ISO)
trichloroethene  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
Golgi apparatus  (IDA,IEA)
Golgi membrane  (IBA,IDA,IEA,TAS)
Golgi stack  (IEA)
membrane  (HDA,IEA)

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

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal earlobe morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal glycosylation  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormal rib cage morphology  (IAGP)
Abnormal scalp morphology  (IAGP)
Abnormality of the common coagulation pathway  (IAGP)
Abnormality of the endocrine system  (IAGP)
Aggressive behavior  (IAGP)
Arrhythmia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Combined immunodeficiency  (IAGP)
Convex nasal ridge  (IAGP)
Coxa valga  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Dental crowding  (IAGP)
Diastema  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastroparesis  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hirsutism  (IAGP)
Hydrops fetalis  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplastic nipples  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impaired lymphocyte transformation with phytohemagglutinin  (IAGP)
Impaired platelet aggregation  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability, severe  (IAGP)
Inverted nipples  (IAGP)
Kyphosis  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Macrodontia  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Midfrontal capillary hemangioma  (IAGP)
Open mouth  (IAGP)
Osteopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Peripheral neuropathy  (IAGP)
Pes planus  (IAGP)
Posteriorly rotated ears  (IAGP)
Postnatal growth retardation  (IAGP)
Progressive microcephaly  (IAGP)
Prominent antihelix  (IAGP)
Prominent nasal bridge  (IAGP)
Protruding tongue  (IAGP)
Proximal placement of thumb  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Reduced antithrombin III activity  (IAGP)
Reduced factor IX activity  (IAGP)
Reduced factor XI activity  (IAGP)
Reduced factor XII activity  (IAGP)
Reduced level of N-acetylglucosaminyltransferase II  (IAGP)
Reflex asystolic syncope  (IAGP)
Respiratory distress  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-mutilation  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Slender long bone  (IAGP)
Sparse hair  (IAGP)
Stereotypical hand wringing  (IAGP)
Thick eyebrow  (IAGP)
Thin vermilion border  (IAGP)
Thoracolumbar kyphoscoliosis  (IAGP)
Type II transferrin isoform profile  (IAGP)
Unsteady gait  (IAGP)
Ventricular septal defect  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. Cormier-Daire V, etal., J Med Genet. 2000 Nov;37(11):875-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Tan J, etal., Am J Hum Genet. 1996 Oct;59(4):810-7.
9. Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. Wang Y, etal., Glycobiology. 2001 Dec;11(12):1051-70.
Additional References at PubMed
PMID:1736542   PMID:2187500   PMID:2283726   PMID:2355006   PMID:2541446   PMID:2542563   PMID:2649653   PMID:2829950   PMID:3099781   PMID:3264072   PMID:7635144   PMID:7797505  
PMID:8093218   PMID:8218172   PMID:8673525   PMID:8892864   PMID:9109416   PMID:9579808   PMID:11530211   PMID:12477932   PMID:12560567   PMID:14702039   PMID:15489334   PMID:16303743  
PMID:19946888   PMID:20301507   PMID:20378551   PMID:21873635   PMID:25437307   PMID:25944901   PMID:26186194   PMID:28380382   PMID:28514442   PMID:29180619   PMID:29409697   PMID:29666272  
PMID:31073040   PMID:32457219   PMID:32694731   PMID:32838362   PMID:33044030   PMID:33961781   PMID:34473204   PMID:34597346   PMID:34837059   PMID:35256949   PMID:35337019   PMID:36114006  
PMID:36215168  


Genomics

Comparative Map Data
MGAT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381449,620,799 - 49,623,481 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1449,620,799 - 49,623,481 (+)EnsemblGRCh38hg38GRCh38
GRCh371450,087,517 - 50,090,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361449,157,239 - 49,159,949 (+)NCBINCBI36Build 36hg18NCBI36
Build 341449,157,246 - 49,159,924NCBI
Celera1429,947,307 - 29,950,017 (+)NCBICelera
Cytogenetic Map14q21.3NCBI
HuRef1430,204,620 - 30,207,330 (+)NCBIHuRef
CHM1_11450,026,493 - 50,029,203 (+)NCBICHM1_1
T2T-CHM13v2.01443,819,023 - 43,821,705 (+)NCBIT2T-CHM13v2.0
Mgat2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391269,230,932 - 69,233,547 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1269,230,931 - 69,233,544 (+)EnsemblGRCm39 Ensembl
GRCm381269,184,158 - 69,186,773 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1269,184,157 - 69,186,770 (+)EnsemblGRCm38mm10GRCm38
MGSCv371270,285,145 - 70,287,760 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361270,102,818 - 70,104,852 (+)NCBIMGSCv36mm8
Celera1270,275,998 - 70,278,613 (+)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1228.73NCBI
Mgat2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8693,392,416 - 93,394,905 (+)NCBIGRCr8
mRatBN7.2687,656,360 - 87,658,849 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl687,656,349 - 87,658,177 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx688,056,244 - 88,058,733 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0688,355,679 - 88,358,168 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0687,795,430 - 87,797,919 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0691,476,698 - 91,479,187 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl691,476,698 - 91,479,183 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06100,935,605 - 100,938,094 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4691,137,262 - 91,139,751 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1691,140,717 - 91,143,203 (+)NCBI
Celera686,155,587 - 86,158,076 (+)NCBICelera
Cytogenetic Map6q24NCBI
Mgat2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540913,030,569 - 13,031,912 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540913,029,578 - 13,032,406 (-)NCBIChiLan1.0ChiLan1.0
MGAT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21550,745,231 - 50,747,895 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11449,961,730 - 49,964,401 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01430,199,011 - 30,201,566 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11448,508,936 - 48,511,644 (+)NCBIpanpan1.1PanPan1.1panPan2
MGAT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1826,244,894 - 26,247,960 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl826,245,407 - 26,246,747 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha825,999,094 - 26,001,888 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0826,423,188 - 26,425,981 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl826,423,230 - 26,425,166 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1826,078,562 - 26,081,356 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0826,152,187 - 26,154,981 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0826,469,320 - 26,472,110 (+)NCBIUU_Cfam_GSD_1.0
Mgat2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864058,288,862 - 58,292,089 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936583398,190 - 399,533 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936583396,787 - 399,697 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MGAT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1179,477,992 - 179,479,801 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11179,478,464 - 179,479,804 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21199,864,843 - 199,866,183 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1q23-q27NCBI
MGAT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12426,660,554 - 26,663,264 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2426,661,049 - 26,662,392 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605314,976,920 - 14,979,602 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mgat2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473119,081,110 - 19,082,453 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473119,080,986 - 19,082,887 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MGAT2
113 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) single nucleotide variant Global developmental delay [RCV000162128]|MGAT2-congenital disorder of glycosylation [RCV000023200] Chr14:49621979 [GRCh38]
Chr14:50088697 [GRCh37]
Chr14:14q21.3
pathogenic|likely pathogenic
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000007405] Chr14:49622137 [GRCh38]
Chr14:50088855 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.785A>G (p.His262Arg) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000007406] Chr14:49622053 [GRCh38]
Chr14:50088771 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000007407] Chr14:49622220 [GRCh38]
Chr14:50088938 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000007408] Chr14:49622285 [GRCh38]
Chr14:50089003 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.733G>C (p.Val245Leu) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000765165]|not provided [RCV000080007] Chr14:49622001 [GRCh38]
Chr14:50088719 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) single nucleotide variant Inborn genetic diseases [RCV002515496]|MGAT2-congenital disorder of glycosylation [RCV000864413]|not provided [RCV001722114]|not specified [RCV000202676] Chr14:49621367 [GRCh38]
Chr14:50088085 [GRCh37]
Chr14:14q21.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3
likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_002408.3(MGAT2):c.711G>C (p.Lys237Asn) single nucleotide variant Abnormal facial shape [RCV000162128] Chr14:49621979 [GRCh38]
Chr14:50088697 [GRCh37]
Chr14:14q21.3
likely pathogenic
NM_002408.4(MGAT2):c.768T>G (p.Leu256=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001087051]|not provided [RCV000839536] Chr14:49622036 [GRCh38]
Chr14:50088754 [GRCh37]
Chr14:14q21.3
benign|likely benign
NM_002408.4(MGAT2):c.799G>C (p.Asp267His) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000754824] Chr14:49622067 [GRCh38]
Chr14:50088785 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.360G>A (p.Leu120=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000871760]|not specified [RCV000427887] Chr14:49621628 [GRCh38]
Chr14:50088346 [GRCh37]
Chr14:14q21.3
benign|uncertain significance
NM_002408.4(MGAT2):c.-443C>T single nucleotide variant Congenital disorder of glycosylation [RCV000267925]|MGAT2-congenital disorder of glycosylation [RCV001109234]|not provided [RCV001571379] Chr14:49620826 [GRCh38]
Chr14:50087544 [GRCh37]
Chr14:14q21.3
likely benign|uncertain significance
NM_002408.4(MGAT2):c.*579C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000307138] Chr14:49623191 [GRCh38]
Chr14:50089909 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*366C>G single nucleotide variant Congenital disorder of glycosylation [RCV000273304]|MGAT2-congenital disorder of glycosylation [RCV001112128] Chr14:49622978 [GRCh38]
Chr14:50089696 [GRCh37]
Chr14:14q21.3
likely benign|uncertain significance
NM_002408.4(MGAT2):c.*769G>T single nucleotide variant Congenital disorder of glycosylation [RCV000261679] Chr14:49623381 [GRCh38]
Chr14:50090099 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-338C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000270003] Chr14:49620931 [GRCh38]
Chr14:50087649 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.971C>G (p.Thr324Ser) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000343016] Chr14:49622239 [GRCh38]
Chr14:50088957 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-360G>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000271013] Chr14:49620909 [GRCh38]
Chr14:50087627 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-76GCCC[4] microsatellite Congenital disorder of glycosylation [RCV000282317] Chr14:49621190..49621191 [GRCh38]
Chr14:50087908..50087909 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*825A>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000371456] Chr14:49623437 [GRCh38]
Chr14:50090155 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-143G>C single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000350344] Chr14:49621126 [GRCh38]
Chr14:50087844 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-121C>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000374660] Chr14:49621148 [GRCh38]
Chr14:50087866 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-296C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000332162] Chr14:49620973 [GRCh38]
Chr14:50087691 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*669del deletion Congenital disorder of glycosylation [RCV000276758] Chr14:49623271 [GRCh38]
Chr14:50089989 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.63C>T (p.Gly21=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000872103]|not specified [RCV000426874] Chr14:49621331 [GRCh38]
Chr14:50088049 [GRCh37]
Chr14:14q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) single nucleotide variant Congenital disorder of glycosylation [RCV000406511]|MGAT2-congenital disorder of glycosylation [RCV001111658]|not specified [RCV000607723] Chr14:49622501 [GRCh38]
Chr14:50089219 [GRCh37]
Chr14:14q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002408.4(MGAT2):c.-425C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000358769] Chr14:49620844 [GRCh38]
Chr14:50087562 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*722T>C single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000386576] Chr14:49623334 [GRCh38]
Chr14:50090052 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*791G>A single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000319070] Chr14:49623403 [GRCh38]
Chr14:50090121 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-350C>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000380912] Chr14:49620919 [GRCh38]
Chr14:50087637 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*286_*289del deletion Congenital disorder of glycosylation [RCV000303736] Chr14:49622896..49622899 [GRCh38]
Chr14:50089614..50089617 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_018139.3(DNAAF2):c.*126T>A single nucleotide variant Congenital disorder of glycosylation [RCV000316501]|Primary ciliary dyskinesia 10 [RCV001115081]|Primary ciliary dyskinesia [RCV000340362]|not provided [RCV001653542] Chr14:49625416 [GRCh38]
Chr14:50092134 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.-161C>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000293011] Chr14:49621108 [GRCh38]
Chr14:50087826 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*600TGAT[1] microsatellite Congenital disorder of glycosylation [RCV000364173] Chr14:49623211..49623214 [GRCh38]
Chr14:50089929..50089932 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*310A>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000365533] Chr14:49622922 [GRCh38]
Chr14:50089640 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-234T>C single nucleotide variant Congenital disorder of glycosylation [RCV000389040]|MGAT2-congenital disorder of glycosylation [RCV001111561]|Primary ciliary dyskinesia [RCV000329751]|not provided [RCV001672496] Chr14:49621035 [GRCh38]
Chr14:50087753 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.*666_*669del deletion Congenital disorder of glycosylation [RCV000334168] Chr14:49623271..49623274 [GRCh38]
Chr14:50089989..50089992 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly) single nucleotide variant Congenital disorder of glycosylation [RCV000373426]|Primary ciliary dyskinesia 10 [RCV000608104]|Primary ciliary dyskinesia [RCV000347806]|not provided [RCV001705968]|not specified [RCV000150422] Chr14:49625753 [GRCh38]
Chr14:50092471 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.261G>T (p.Leu87=) single nucleotide variant Congenital disorder of glycosylation [RCV000392394]|MGAT2-congenital disorder of glycosylation [RCV000636243]|Primary ciliary dyskinesia [RCV000375068]|not specified [RCV000422780] Chr14:49621529 [GRCh38]
Chr14:50088247 [GRCh37]
Chr14:14q21.3
benign|likely benign
NM_018139.3(DNAAF2):c.*328A>T single nucleotide variant Congenital disorder of glycosylation [RCV000263656]|Primary ciliary dyskinesia 10 [RCV001115078]|Primary ciliary dyskinesia [RCV000279425] Chr14:49625214 [GRCh38]
Chr14:50091932 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.-455C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000298338] Chr14:49620814 [GRCh38]
Chr14:50087532 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-351G>T single nucleotide variant Congenital disorder of glycosylation [RCV000328474]|MGAT2-congenital disorder of glycosylation [RCV001111559]|Primary ciliary dyskinesia [RCV000274610]|not provided [RCV001576445] Chr14:49620918 [GRCh38]
Chr14:50087636 [GRCh37]
Chr14:14q21.3
benign|likely benign
NM_002408.4(MGAT2):c.-446C>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000360191] Chr14:49620823 [GRCh38]
Chr14:50087541 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-429G>A single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000301664] Chr14:49620840 [GRCh38]
Chr14:50087558 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1006_1009del (p.Asp336fs) deletion not provided [RCV000731976] Chr14:49622271..49622274 [GRCh38]
Chr14:50088989..50088992 [GRCh37]
Chr14:14q21.3
likely pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_002408.4(MGAT2):c.120G>T (p.Pro40=) single nucleotide variant not specified [RCV000437624] Chr14:49621388 [GRCh38]
Chr14:50088106 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111657]|not specified [RCV000442827] Chr14:49622291 [GRCh38]
Chr14:50089009 [GRCh37]
Chr14:14q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002408.4(MGAT2):c.609T>C (p.Asn203=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000872865]|not specified [RCV000423478] Chr14:49621877 [GRCh38]
Chr14:50088595 [GRCh37]
Chr14:14q21.3
benign|likely benign
NM_002408.4(MGAT2):c.*11T>C single nucleotide variant not specified [RCV000433982] Chr14:49622623 [GRCh38]
Chr14:50089341 [GRCh37]
Chr14:14q21.3
likely benign
GRCh37/hg19 14q21.3(chr14:50073908-50127672)x1 copy number loss See cases [RCV000448838] Chr14:50073908..50127672 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_002408.4(MGAT2):c.745C>T (p.Arg249Ter) single nucleotide variant not provided [RCV000579032] Chr14:49622013 [GRCh38]
Chr14:50088731 [GRCh37]
Chr14:14q21.3
likely pathogenic
NM_002408.4(MGAT2):c.406G>A (p.Asp136Asn) single nucleotide variant Inborn genetic diseases [RCV003299507] Chr14:49621674 [GRCh38]
Chr14:50088392 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.30G>A (p.Val10=) single nucleotide variant not specified [RCV000614678] Chr14:49621298 [GRCh38]
Chr14:50088016 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.153C>T (p.Gly51=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001472912]|not specified [RCV000607474] Chr14:49621421 [GRCh38]
Chr14:50088139 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.688A>C (p.Thr230Pro) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000636242] Chr14:49621956 [GRCh38]
Chr14:50088674 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.232G>A (p.Ala78Thr) single nucleotide variant Inborn genetic diseases [RCV002532283]|MGAT2-congenital disorder of glycosylation [RCV000695206] Chr14:49621500 [GRCh38]
Chr14:50088218 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.862G>A (p.Val288Ile) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000689519] Chr14:49622130 [GRCh38]
Chr14:50088848 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q21.3(chr14:50069088-50199169)x3 copy number gain not provided [RCV000738491] Chr14:50069088..50199169 [GRCh37]
Chr14:14q21.3
benign
NC_000014.9:g.49620639C>G single nucleotide variant not provided [RCV001668758] Chr14:49620639 [GRCh38]
Chr14:50087357 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.753dup (p.Ala252fs) duplication MGAT2-congenital disorder of glycosylation [RCV000754822] Chr14:49622020..49622021 [GRCh38]
Chr14:50088738..50088739 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000754823] Chr14:49621359 [GRCh38]
Chr14:50088077 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.233C>T (p.Ala78Val) single nucleotide variant Inborn genetic diseases [RCV003163267]|MGAT2-congenital disorder of glycosylation [RCV001114973] Chr14:49621501 [GRCh38]
Chr14:50088219 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.402G>A (p.Leu134=) single nucleotide variant not provided [RCV000926885] Chr14:49621670 [GRCh38]
Chr14:50088388 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000754821] Chr14:49622388 [GRCh38]
Chr14:50089106 [GRCh37]
Chr14:14q21.3
pathogenic
NM_002408.4(MGAT2):c.1093C>T (p.Leu365=) single nucleotide variant not provided [RCV000920417] Chr14:49622361 [GRCh38]
Chr14:50089079 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000785908] Chr14:49621779 [GRCh38]
Chr14:50088497 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.591C>T (p.Pro197=) single nucleotide variant not provided [RCV000883371] Chr14:49621859 [GRCh38]
Chr14:50088577 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.1290G>A (p.Gly430=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002067550]|not provided [RCV000842122] Chr14:49622558 [GRCh38]
Chr14:50089276 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.850C>T (p.Pro284Ser) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000802628] Chr14:49622118 [GRCh38]
Chr14:50088836 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000785909] Chr14:49622065 [GRCh38]
Chr14:50088783 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.68T>C (p.Val23Ala) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000791890] Chr14:49621336 [GRCh38]
Chr14:50088054 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.250G>T (p.Ala84Ser) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000809353] Chr14:49621518 [GRCh38]
Chr14:50088236 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.411A>T (p.Ser137=) single nucleotide variant not provided [RCV000839906] Chr14:49621679 [GRCh38]
Chr14:50088397 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.*372A>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001112129] Chr14:49622984 [GRCh38]
Chr14:50089702 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.48G>C (p.Val16=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001113568] Chr14:49621316 [GRCh38]
Chr14:50088034 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.66C>T (p.Phe22=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001114971] Chr14:49621334 [GRCh38]
Chr14:50088052 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-304C>A single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111560] Chr14:49620965 [GRCh38]
Chr14:50087683 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.346dup (p.Arg116fs) duplication not provided [RCV001008547] Chr14:49621608..49621609 [GRCh38]
Chr14:50088326..50088327 [GRCh37]
Chr14:14q21.3
likely pathogenic
NM_002408.3(MGAT2):c.-495C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109231] Chr14:49620774 [GRCh38]
Chr14:50087492 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.3(MGAT2):c.-494C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109232] Chr14:49620775 [GRCh38]
Chr14:50087493 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.354G>A (p.Leu118=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109333] Chr14:49621622 [GRCh38]
Chr14:50088340 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.764T>C (p.Ile255Thr) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109335] Chr14:49622032 [GRCh38]
Chr14:50088750 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.866T>A (p.Leu289His) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109336] Chr14:49622134 [GRCh38]
Chr14:50088852 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*144C>A single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111659] Chr14:49622756 [GRCh38]
Chr14:50089474 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*189T>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111660] Chr14:49622801 [GRCh38]
Chr14:50089519 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1056C>T (p.Tyr352=) single nucleotide variant not provided [RCV000917845] Chr14:49622324 [GRCh38]
Chr14:50089042 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV000872131] Chr14:49621497 [GRCh38]
Chr14:50088215 [GRCh37]
Chr14:14q21.3
likely benign|conflicting interpretations of pathogenicity
NM_002408.4(MGAT2):c.636T>C (p.Asn212=) single nucleotide variant not provided [RCV000912084] Chr14:49621904 [GRCh38]
Chr14:50088622 [GRCh37]
Chr14:14q21.3
likely benign
NM_001001.5(RPL36AL):c.-37+32A>G single nucleotide variant not provided [RCV001616887] Chr14:49620530 [GRCh38]
Chr14:50087248 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.-190G>A single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111562] Chr14:49621079 [GRCh38]
Chr14:50087797 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*210C>A single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111661] Chr14:49622822 [GRCh38]
Chr14:50089540 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*228A>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001111662] Chr14:49622840 [GRCh38]
Chr14:50089558 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.*821C>T single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001112131] Chr14:49623433 [GRCh38]
Chr14:50090151 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-125C>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001113565] Chr14:49621144 [GRCh38]
Chr14:50087862 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.590C>A (p.Pro197His) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109334] Chr14:49621858 [GRCh38]
Chr14:50088576 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.*598T>C single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001112130] Chr14:49623210 [GRCh38]
Chr14:50089928 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.-110G>C single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001113566] Chr14:49621159 [GRCh38]
Chr14:50087877 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.302A>T (p.Asp101Val) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001114974] Chr14:49621570 [GRCh38]
Chr14:50088288 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.15C>G (p.Ile5Met) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001113567] Chr14:49621283 [GRCh38]
Chr14:50088001 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.146G>A (p.Gly49Asp) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001248201] Chr14:49621414 [GRCh38]
Chr14:50088132 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.105G>A (p.Glu35=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001114972] Chr14:49621373 [GRCh38]
Chr14:50088091 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.3(MGAT2):c.-486C>G single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001109233] Chr14:49620783 [GRCh38]
Chr14:50087501 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.206A>G (p.Asn69Ser) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001316599] Chr14:49621474 [GRCh38]
Chr14:50088192 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.544C>G (p.Gln182Glu) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001361380] Chr14:49621812 [GRCh38]
Chr14:50088530 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.327G>T (p.Lys109Asn) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001335934] Chr14:49621595 [GRCh38]
Chr14:50088313 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.275G>T (p.Arg92Leu) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001350336] Chr14:49621543 [GRCh38]
Chr14:50088261 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.509G>A (p.Cys170Tyr) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001330924] Chr14:49621777 [GRCh38]
Chr14:50088495 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.921A>G (p.Val307=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001497666] Chr14:49622189 [GRCh38]
Chr14:50088907 [GRCh37]
Chr14:14q21.3
likely benign
GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931) copy number gain not specified [RCV002053098] Chr14:45827312..50529931 [GRCh37]
Chr14:14q21.2-21.3
uncertain significance
NM_002408.4(MGAT2):c.766C>G (p.Leu256Val) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001891863] Chr14:49622034 [GRCh38]
Chr14:50088752 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.263C>G (p.Thr88Arg) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001910830] Chr14:49621531 [GRCh38]
Chr14:50088249 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q21.3(chr14:50073908-50127672) copy number loss not specified [RCV002053102] Chr14:50073908..50127672 [GRCh37]
Chr14:14q21.3
uncertain significance
NC_000014.8:g.(?_50050385)_(50118115_?)dup duplication Primary ciliary dyskinesia [RCV001943130] Chr14:50050385..50118115 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.315G>T (p.Arg105Ser) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV001869913] Chr14:49621583 [GRCh38]
Chr14:50088301 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1104A>G (p.Gln368=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002150032] Chr14:49622372 [GRCh38]
Chr14:50089090 [GRCh37]
Chr14:14q21.3
likely benign
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3
pathogenic
NM_002408.4(MGAT2):c.1182_1296delinsT (p.Gln394_Gly432delinsHis) indel not provided [RCV002269546] Chr14:49622450..49622564 [GRCh38]
Chr14:50089168..50089282 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_002408.4(MGAT2):c.983A>G (p.Tyr328Cys) single nucleotide variant Inborn genetic diseases [RCV002906930] Chr14:49622251 [GRCh38]
Chr14:50088969 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.437A>G (p.Asn146Ser) single nucleotide variant Inborn genetic diseases [RCV002774502] Chr14:49621705 [GRCh38]
Chr14:50088423 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.809A>T (p.His270Leu) single nucleotide variant Inborn genetic diseases [RCV002752927] Chr14:49622077 [GRCh38]
Chr14:50088795 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1262C>T (p.Ala421Val) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002730271] Chr14:49622530 [GRCh38]
Chr14:50089248 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.781G>T (p.Asp261Tyr) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003032646] Chr14:49622049 [GRCh38]
Chr14:50088767 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.319G>A (p.Val107Ile) single nucleotide variant Inborn genetic diseases [RCV002759752] Chr14:49621587 [GRCh38]
Chr14:50088305 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.173C>G (p.Pro58Arg) single nucleotide variant Inborn genetic diseases [RCV002707996] Chr14:49621441 [GRCh38]
Chr14:50088159 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.814T>C (p.Phe272Leu) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002695113] Chr14:49622082 [GRCh38]
Chr14:50088800 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.834G>A (p.Leu278=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002736683] Chr14:49622102 [GRCh38]
Chr14:50088820 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.1202A>G (p.Asn401Ser) single nucleotide variant Inborn genetic diseases [RCV002978878] Chr14:49622470 [GRCh38]
Chr14:50089188 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.173C>T (p.Pro58Leu) single nucleotide variant Inborn genetic diseases [RCV002892919] Chr14:49621441 [GRCh38]
Chr14:50088159 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.395G>C (p.Arg132Thr) single nucleotide variant Inborn genetic diseases [RCV002849708] Chr14:49621663 [GRCh38]
Chr14:50088381 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.805T>C (p.Tyr269His) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003082921] Chr14:49622073 [GRCh38]
Chr14:50088791 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1027G>C (p.Asp343His) single nucleotide variant Inborn genetic diseases [RCV002697463] Chr14:49622295 [GRCh38]
Chr14:50089013 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.848G>A (p.Cys283Tyr) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002650584] Chr14:49622116 [GRCh38]
Chr14:50088834 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1016_1020del (p.Cys339fs) deletion MGAT2-congenital disorder of glycosylation [RCV003009907] Chr14:49622282..49622286 [GRCh38]
Chr14:50089000..50089004 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.216G>A (p.Ala72=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003009103] Chr14:49621484 [GRCh38]
Chr14:50088202 [GRCh37]
Chr14:14q21.3
benign
NM_002408.4(MGAT2):c.1234A>G (p.Thr412Ala) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002933607] Chr14:49622502 [GRCh38]
Chr14:50089220 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.11G>A (p.Arg4His) single nucleotide variant Inborn genetic diseases [RCV002724294] Chr14:49621279 [GRCh38]
Chr14:50087997 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.525G>A (p.Val175=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV002657982] Chr14:49621793 [GRCh38]
Chr14:50088511 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.1183A>G (p.Ile395Val) single nucleotide variant Inborn genetic diseases [RCV003368860] Chr14:49622451 [GRCh38]
Chr14:50089169 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.1003A>G (p.Thr335Ala) single nucleotide variant Inborn genetic diseases [RCV003370150] Chr14:49622271 [GRCh38]
Chr14:50088989 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.359T>C (p.Leu120Pro) single nucleotide variant Inborn genetic diseases [RCV003386878] Chr14:49621627 [GRCh38]
Chr14:50088345 [GRCh37]
Chr14:14q21.3
uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1
pathogenic
NM_002408.4(MGAT2):c.76A>G (p.Ser26Gly) single nucleotide variant not specified [RCV003404849] Chr14:49621344 [GRCh38]
Chr14:50088062 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.189C>T (p.Gly63=) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003848871] Chr14:49621457 [GRCh38]
Chr14:50088175 [GRCh37]
Chr14:14q21.3
likely benign
NM_002408.4(MGAT2):c.842A>C (p.Gln281Pro) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003507918] Chr14:49622110 [GRCh38]
Chr14:50088828 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.163G>A (p.Gly55Arg) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003508472] Chr14:49621431 [GRCh38]
Chr14:50088149 [GRCh37]
Chr14:14q21.3
uncertain significance
NM_002408.4(MGAT2):c.349G>C (p.Glu117Gln) single nucleotide variant MGAT2-congenital disorder of glycosylation [RCV003832740] Chr14:49621617 [GRCh38]
Chr14:50088335 [GRCh37]
Chr14:14q21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:238
Count of miRNA genes:202
Interacting mature miRNAs:208
Transcripts:ENST00000305386
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
SHGC-36981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,088,242 - 50,088,316UniSTSGRCh37
Build 361449,157,992 - 49,158,066RGDNCBI36
Celera1429,948,060 - 29,948,134RGD
Cytogenetic Map14q21UniSTS
HuRef1430,205,373 - 30,205,447UniSTS
GeneMap99-G3 RH Map141481.0UniSTS
RH71370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,085,606 - 50,085,729UniSTSGRCh37
Build 361449,155,356 - 49,155,479RGDNCBI36
Celera1429,945,424 - 29,945,547RGD
Cytogenetic Map14qUniSTS
Cytogenetic Map14q21UniSTS
HuRef1430,202,737 - 30,202,860UniSTS
ECD22175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,940,176 - 131,940,402UniSTSGRCh37
Build 369130,979,997 - 130,980,223RGDNCBI36
Celera9102,592,469 - 102,592,695RGD
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q21UniSTS
HuRef9101,547,269 - 101,547,495UniSTS
REN36004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,940,212 - 131,940,452UniSTSGRCh37
Build 369130,980,033 - 130,980,273RGDNCBI36
Celera9102,592,505 - 102,592,745RGD
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q21UniSTS
HuRef9101,547,305 - 101,547,545UniSTS
RH69276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371450,089,880 - 50,089,982UniSTSGRCh37
Build 361449,159,630 - 49,159,732RGDNCBI36
Celera1429,949,698 - 29,949,800RGD
Cytogenetic Map14q21UniSTS
HuRef1430,207,011 - 30,207,113UniSTS
GeneMap99-GB4 RH Map14113.3UniSTS
NCBI RH Map14461.5UniSTS


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 514 483 322 137 468 104 339 158 108 49 668 420 44 410 101 2
Low 1920 2405 1367 458 1275 332 3946 1925 3402 293 759 1177 128 1 794 2620 3 1
Below cutoff 3 89 31 25 118 26 66 101 201 71 29 11 63

Sequence


RefSeq Acc Id: ENST00000305386   ⟹   ENSP00000307423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1449,620,799 - 49,623,481 (+)Ensembl
RefSeq Acc Id: NM_002408   ⟹   NP_002399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381449,620,799 - 49,623,481 (+)NCBI
GRCh371450,087,460 - 50,090,199 (+)NCBI
Build 361449,157,239 - 49,159,949 (+)NCBI Archive
HuRef1430,204,620 - 30,207,330 (+)ENTREZGENE
CHM1_11450,026,493 - 50,029,203 (+)NCBI
T2T-CHM13v2.01443,819,023 - 43,821,705 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002399   ⟸   NM_002408
- UniProtKB: B3KPC5 (UniProtKB/Swiss-Prot),   B3KQM0 (UniProtKB/Swiss-Prot),   Q10469 (UniProtKB/Swiss-Prot),   B4DDK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000307423   ⟸   ENST00000305386

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q10469-F1-model_v2 AlphaFold Q10469 1-447 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7045 AgrOrtholog
COSMIC MGAT2 COSMIC
Ensembl Genes ENSG00000168282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305386 ENTREZGENE
  ENST00000305386.4 UniProtKB/Swiss-Prot
GTEx ENSG00000168282 GTEx
HGNC ID HGNC:7045 ENTREZGENE
Human Proteome Map MGAT2 Human Proteome Map
InterPro GlcNAc_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4247 UniProtKB/Swiss-Prot
NCBI Gene 4247 ENTREZGENE
OMIM 602616 OMIM
PANTHER ALPHA-1,6-MANNOSYL-GLYCOPROTEIN 2-BETA-N-ACETYLGLUCOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE II UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam MGAT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30780 PharmGKB
PROSITE PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
Superfamily-SCOP Nucleotide-diphospho-sugar transferases UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B3KPC5 ENTREZGENE
  B3KQM0 ENTREZGENE
  B4DDK9 ENTREZGENE, UniProtKB/TrEMBL
  MGAT2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KPC5 UniProtKB/Swiss-Prot
  B3KQM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 MGAT2  alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase  MGAT2  mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase  Symbol and/or name change 5135510 APPROVED