GNAT2 (G protein subunit alpha transducin 2) - Rat Genome Database

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Gene: GNAT2 (G protein subunit alpha transducin 2) Homo sapiens
Analyze
Symbol: GNAT2
Name: G protein subunit alpha transducin 2
RGD ID: 1319893
HGNC Page HGNC:4394
Description: Predicted to enable G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Involved in detection of light stimulus involved in visual perception. Located in photoreceptor inner segment and photoreceptor outer segment. Implicated in achromatopsia 4 and color blindness.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACHM4; cone-type transducin alpha subunit; GNATC; guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2; guanine nucleotide-binding protein G(t) subunit alpha-2; guanine nucleotide-binding protein G(t), alpha-2 subunit; heterotrimeric guanine nucleotide-binding protein 1D; HG1D; transducin alpha-2 chain; transducin, cone-specific, alpha polypeptide
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
GRCh381109,603,091 - 109,619,616 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,603,091 - 109,619,929 (-)EnsemblGRCh38hg38GRCh38
GRCh371110,145,713 - 110,162,238 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361109,947,412 - 109,957,228 (-)NCBINCBI36Build 36hg18NCBI36
Build 341109,857,755 - 109,867,747NCBI
Celera1108,415,188 - 108,425,004 (-)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1108,038,398 - 108,048,214 (-)NCBIHuRef
CHM1_11110,260,808 - 110,270,624 (-)NCBICHM1_1
T2T-CHM13v2.01109,635,806 - 109,652,336 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Photoreceptor signaling: supporting vision across a wide range of light intensities. Arshavsky VY and Burns ME, J Biol Chem. 2012 Jan 13;287(3):1620-6. Epub 2011 Nov 10.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Kohl S, etal., Am J Hum Genet. 2002 Aug;71(2):422-5. Epub 2002 Jun 20.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1302014   PMID:1322796   PMID:1655754   PMID:1713215   PMID:1905716   PMID:1936270   PMID:2534964   PMID:2902634   PMID:3118369   PMID:8112713   PMID:8208289   PMID:8406495  
PMID:8521505   PMID:9008644   PMID:11118617   PMID:12205108   PMID:12477932   PMID:15094710   PMID:15489334   PMID:15557429   PMID:16892066   PMID:18240029   PMID:19592100   PMID:20125088  
PMID:20301591   PMID:20360068   PMID:20603337   PMID:21107338   PMID:21267001   PMID:21832049   PMID:21873635   PMID:23362848   PMID:23563607   PMID:24561123   PMID:26186194   PMID:28514442  
PMID:31058429   PMID:32203983   PMID:33961781   PMID:36424410   PMID:36597993  


Genomics

Comparative Map Data
GNAT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381109,603,091 - 109,619,616 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1109,603,091 - 109,619,929 (-)EnsemblGRCh38hg38GRCh38
GRCh371110,145,713 - 110,162,238 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361109,947,412 - 109,957,228 (-)NCBINCBI36Build 36hg18NCBI36
Build 341109,857,755 - 109,867,747NCBI
Celera1108,415,188 - 108,425,004 (-)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1108,038,398 - 108,048,214 (-)NCBIHuRef
CHM1_11110,260,808 - 110,270,624 (-)NCBICHM1_1
T2T-CHM13v2.01109,635,806 - 109,652,336 (-)NCBIT2T-CHM13v2.0
Gnat2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393107,994,120 - 108,008,748 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3108,000,105 - 108,008,748 (+)EnsemblGRCm39 Ensembl
GRCm383108,086,788 - 108,101,432 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3108,092,789 - 108,101,432 (+)EnsemblGRCm38mm10GRCm38
MGSCv373107,895,986 - 107,904,204 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363108,221,124 - 108,229,342 (+)NCBIMGSCv36mm8
Celera3110,426,871 - 110,435,091 (+)NCBICelera
Cytogenetic Map3F2.3NCBI
cM Map346.83NCBI
Gnat2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82198,414,568 - 198,431,532 (+)NCBIGRCr8
mRatBN7.22195,726,371 - 195,735,866 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2195,726,762 - 195,735,866 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2203,369,093 - 203,379,075 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02201,251,209 - 201,261,195 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02196,068,170 - 196,078,152 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02210,880,754 - 210,890,765 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2210,880,777 - 210,889,881 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02230,349,625 - 230,360,013 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42203,652,408 - 203,655,012 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12203,615,107 - 203,624,311 (+)NCBI
Celera2188,372,146 - 188,381,142 (+)NCBICelera
Cytogenetic Map2q34NCBI
Gnat2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543513,009,147 - 13,021,968 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543513,009,147 - 13,021,968 (-)NCBIChiLan1.0ChiLan1.0
GNAT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21117,683,235 - 117,702,178 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11116,843,155 - 116,871,182 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01111,980,855 - 111,990,686 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11111,208,510 - 111,225,808 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1111,208,510 - 111,225,808 (-)Ensemblpanpan1.1panPan2
GNAT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1642,259,404 - 42,271,197 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl642,259,702 - 42,268,082 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha645,034,879 - 45,045,858 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0642,590,654 - 42,601,816 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl642,590,715 - 42,599,278 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1642,323,454 - 42,334,432 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0642,281,317 - 42,292,469 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0642,716,493 - 42,727,654 (+)NCBIUU_Cfam_GSD_1.0
Gnat2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505819,020,455 - 19,034,886 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367041,084,587 - 1,093,691 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367041,079,255 - 1,093,732 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNAT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4110,498,707 - 110,524,072 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14110,512,349 - 110,523,222 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GNAT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12023,927,025 - 23,942,590 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2023,933,737 - 23,942,490 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603834,516,711 - 34,532,736 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnat2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247725,318,113 - 5,326,841 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247725,317,702 - 5,326,841 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNAT2
187 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001377295.2(GNAT2):c.720+5G>C single nucleotide variant not provided [RCV000523209] Chr1:109605965 [GRCh38]
Chr1:110148587 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter) single nucleotide variant Achromatopsia 4 [RCV000017273]|not provided [RCV001386994] Chr1:109610108 [GRCh38]
Chr1:110152730 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs) insertion Achromatopsia 4 [RCV000017274] Chr1:109603982..109603983 [GRCh38]
Chr1:110146604..110146605 [GRCh37]
Chr1:1p13.3
pathogenic
GNAT2, NT285, 7-BP DEL/6-BP INS indel Achromatopsia 4 [RCV000017275] Chr1:1p13 pathogenic
NM_001377295.2(GNAT2):c.461+24G>A single nucleotide variant Achromatopsia 4 [RCV000017276] Chr1:109608607 [GRCh38]
Chr1:110151229 [GRCh37]
Chr1:1p13.3
pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2
pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
NM_005272.3(GNAT2):c.619G>C (p.Glu207Gln) single nucleotide variant Malignant melanoma [RCV000064001] Chr1:109606071 [GRCh38]
Chr1:110148693 [GRCh37]
Chr1:109950216 [NCBI36]
Chr1:1p13.3
not provided
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) single nucleotide variant Achromatopsia 4 [RCV000369885]|not provided [RCV000892904]|not specified [RCV000180271] Chr1:109603486 [GRCh38]
Chr1:110146108 [GRCh37]
Chr1:1p13.3
benign|uncertain significance
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) single nucleotide variant Achromatopsia 4 [RCV000377080]|not provided [RCV000950060]|not specified [RCV000178239] Chr1:109608722 [GRCh38]
Chr1:110151344 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3 copy number gain See cases [RCV000138606] Chr1:108970247..109794222 [GRCh38]
Chr1:109512869..110336844 [GRCh37]
Chr1:109314392..110138367 [NCBI36]
Chr1:1p13.3
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2
pathogenic
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) single nucleotide variant Achromatopsia 4 [RCV000625323]|not provided [RCV000892905]|not specified [RCV000175801] Chr1:109610479 [GRCh38]
Chr1:110153101 [GRCh37]
Chr1:1p13.3
benign|likely benign|uncertain significance
NM_001377295.2(GNAT2):c.928C>T (p.Leu310Phe) single nucleotide variant Achromatopsia 4 [RCV000277674]|not provided [RCV001479580] Chr1:109603491 [GRCh38]
Chr1:110146113 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.369C>T (p.Leu123=) single nucleotide variant Achromatopsia 4 [RCV000266235]|not provided [RCV001509641] Chr1:109608723 [GRCh38]
Chr1:110151345 [GRCh37]
Chr1:1p13.3
benign|likely benign|uncertain significance
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln) single nucleotide variant Achromatopsia 4 [RCV000380667]|not provided [RCV000994064] Chr1:109610086 [GRCh38]
Chr1:110152708 [GRCh37]
Chr1:1p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001377295.2(GNAT2):c.609G>T (p.Gly203=) single nucleotide variant Achromatopsia 4 [RCV000364226]|not provided [RCV001437836] Chr1:109606081 [GRCh38]
Chr1:110148703 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001377295.2(GNAT2):c.427G>A (p.Ala143Thr) single nucleotide variant Achromatopsia 4 [RCV000329377]|Inborn genetic diseases [RCV002519368]|not provided [RCV001068275] Chr1:109608665 [GRCh38]
Chr1:110151287 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.672T>C (p.Cys224=) single nucleotide variant Achromatopsia 4 [RCV000307197] Chr1:109606018 [GRCh38]
Chr1:110148640 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.14C>T (p.Ala5Val) single nucleotide variant Achromatopsia 4 [RCV000341201]|not provided [RCV001034183] Chr1:109612857 [GRCh38]
Chr1:110155479 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.546G>A (p.Thr182=) single nucleotide variant Achromatopsia 4 [RCV000272012]|not provided [RCV001514919]|not specified [RCV000249876] Chr1:109606352 [GRCh38]
Chr1:110148974 [GRCh37]
Chr1:1p13.3
benign
NM_001377295.2(GNAT2):c.-32A>G single nucleotide variant Achromatopsia 4 [RCV000377108]|not specified [RCV000254555] Chr1:109612902 [GRCh38]
Chr1:110155524 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile) single nucleotide variant Achromatopsia 4 [RCV000323659]|not provided [RCV001522255]|not specified [RCV000246342] Chr1:109608773 [GRCh38]
Chr1:110151395 [GRCh37]
Chr1:1p13.3
benign|likely benign
NM_001377295.2(GNAT2):c.-53-78G>A single nucleotide variant Achromatopsia 4 [RCV000346863] Chr1:109613001 [GRCh38]
Chr1:110155623 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.-53-35C>G single nucleotide variant Achromatopsia 4 [RCV000292100] Chr1:109612958 [GRCh38]
Chr1:110155580 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.906C>A (p.Tyr302Ter) single nucleotide variant Abnormality of the eye [RCV000505046] Chr1:109603513 [GRCh38]
Chr1:110146135 [GRCh37]
Chr1:1p13.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) single nucleotide variant Achromatopsia 4 [RCV000625933]|Achromatopsia [RCV003483692]|not provided [RCV002272306] Chr1:109606417 [GRCh38]
Chr1:110149039 [GRCh37]
Chr1:1p13.3
pathogenic|likely pathogenic
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) single nucleotide variant Achromatopsia 4 [RCV001002705] Chr1:109606085 [GRCh38]
Chr1:110148707 [GRCh37]
Chr1:1p13.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2
likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
NM_001377295.2(GNAT2):c.107T>G (p.Leu36Arg) single nucleotide variant Achromatopsia 4 [RCV000761394]|not provided [RCV003117547] Chr1:109612764 [GRCh38]
Chr1:110155386 [GRCh37]
Chr1:1p13.3
likely pathogenic|uncertain significance
NM_001377295.2(GNAT2):c.139A>G (p.Ser47Gly) single nucleotide variant Achromatopsia 4 [RCV000761395] Chr1:109610487 [GRCh38]
Chr1:110153109 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) indel Achromatopsia 4 [RCV000761396] Chr1:109610052..109610058 [GRCh38]
Chr1:110152674..110152680 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.303+365_461+974dup duplication Achromatopsia 4 [RCV000761397] Chr1:109607656..109607657 [GRCh38]
Chr1:110150278..110150279 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter) single nucleotide variant Achromatopsia 4 [RCV000761399] Chr1:109608779 [GRCh38]
Chr1:110151401 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer) duplication Achromatopsia 4 [RCV000761400] Chr1:109606394..109606395 [GRCh38]
Chr1:110149016..110149017 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.591-2A>C single nucleotide variant Achromatopsia 4 [RCV000761401]|Achromatopsia [RCV001199475] Chr1:109606101 [GRCh38]
Chr1:110148723 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) single nucleotide variant Achromatopsia 4 [RCV000761402] Chr1:109606097 [GRCh38]
Chr1:110148719 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val) single nucleotide variant Achromatopsia 4 [RCV000761403]|Cone dystrophy [RCV001199818] Chr1:109606070 [GRCh38]
Chr1:110148692 [GRCh37]
Chr1:1p13.3
pathogenic|uncertain significance
NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr) single nucleotide variant Achromatopsia 4 [RCV000761404]|not provided [RCV001855940] Chr1:109606067 [GRCh38]
Chr1:110148689 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.720+2T>C single nucleotide variant Achromatopsia 4 [RCV000761405]|Retinal dystrophy [RCV001074059] Chr1:109605968 [GRCh38]
Chr1:110148590 [GRCh37]
Chr1:1p13.3
pathogenic|likely pathogenic
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) single nucleotide variant Achromatopsia 4 [RCV000761406]|not provided [RCV001855941] Chr1:109604101 [GRCh38]
Chr1:110146723 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs) duplication Achromatopsia 4 [RCV000761407] Chr1:109604018..109604019 [GRCh38]
Chr1:110146640..110146641 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del) microsatellite Achromatopsia 4 [RCV000761408]|not provided [RCV001304769] Chr1:109604012..109604014 [GRCh38]
Chr1:110146634..110146636 [GRCh37]
Chr1:1p13.3
likely pathogenic|uncertain significance
NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His) single nucleotide variant Achromatopsia 4 [RCV000761409]|Cone dystrophy [RCV001199819]|not provided [RCV003117548] Chr1:109603533 [GRCh38]
Chr1:110146155 [GRCh37]
Chr1:1p13.3
pathogenic|uncertain significance
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) single nucleotide variant Achromatopsia 4 [RCV000761410] Chr1:109603482 [GRCh38]
Chr1:110146104 [GRCh37]
Chr1:1p13.3
pathogenic|likely pathogenic
NM_001377295.2(GNAT2):c.943G>A (p.Asp315Asn) single nucleotide variant Achromatopsia 4 [RCV000761411] Chr1:109603476 [GRCh38]
Chr1:110146098 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.955del (p.Ile319fs) deletion Achromatopsia 4 [RCV000761412] Chr1:109603464 [GRCh38]
Chr1:110146086 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.303+365_461+974del deletion Achromatopsia 4 [RCV000761398] Chr1:109607657..109609675 [GRCh38]
Chr1:110150279..110152297 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.309C>T (p.Asp103=) single nucleotide variant not provided [RCV000900649] Chr1:109608783 [GRCh38]
Chr1:110151405 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.721-4C>T single nucleotide variant not provided [RCV000924719] Chr1:109604108 [GRCh38]
Chr1:110146730 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.909A>G (p.Ile303Met) single nucleotide variant not provided [RCV001065296] Chr1:109603510 [GRCh38]
Chr1:110146132 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.341T>C (p.Ile114Thr) single nucleotide variant not provided [RCV001053124] Chr1:109608751 [GRCh38]
Chr1:110151373 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.246G>A (p.Leu82=) single nucleotide variant Achromatopsia 4 [RCV001096138]|not provided [RCV001514257] Chr1:109610097 [GRCh38]
Chr1:110152719 [GRCh37]
Chr1:1p13.3
benign|uncertain significance
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3
not provided
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.*50G>C single nucleotide variant Achromatopsia 4 [RCV001099587] Chr1:109603304 [GRCh38]
Chr1:110145926 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.101T>C (p.Val34Ala) single nucleotide variant not provided [RCV001055565] Chr1:109612770 [GRCh38]
Chr1:110155392 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.175del (p.Asp59fs) deletion not provided [RCV001008927] Chr1:109610168 [GRCh38]
Chr1:110152790 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.118+5G>A single nucleotide variant not provided [RCV001240179] Chr1:109612748 [GRCh38]
Chr1:110155370 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.650G>A (p.Gly217Glu) single nucleotide variant not provided [RCV001206705] Chr1:109606040 [GRCh38]
Chr1:110148662 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.571G>A (p.Val191Ile) single nucleotide variant not provided [RCV001225330] Chr1:109606327 [GRCh38]
Chr1:110148949 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His) single nucleotide variant Achromatopsia 4 [RCV003346369]|Inborn genetic diseases [RCV002561758]|not provided [RCV001211407] Chr1:109604007 [GRCh38]
Chr1:110146629 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.966C>G (p.His322Gln) single nucleotide variant not provided [RCV001207955] Chr1:109603453 [GRCh38]
Chr1:110146075 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) single nucleotide variant Achromatopsia 4 [RCV001096139]|not provided [RCV001323777] Chr1:109610100 [GRCh38]
Chr1:110152722 [GRCh37]
Chr1:1p13.3
uncertain significance
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.178G>A (p.Gly60Ser) single nucleotide variant not provided [RCV003107197] Chr1:109610165 [GRCh38]
Chr1:110152787 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.931A>G (p.Asn311Asp) single nucleotide variant not provided [RCV001226741] Chr1:109603488 [GRCh38]
Chr1:110146110 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.148G>A (p.Val50Ile) single nucleotide variant not provided [RCV001243554] Chr1:109610478 [GRCh38]
Chr1:110153100 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.998A>T (p.Lys333Ile) single nucleotide variant not provided [RCV000994063] Chr1:109603421 [GRCh38]
Chr1:110146043 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.349G>A (p.Gly117Arg) single nucleotide variant not provided [RCV001055414] Chr1:109608743 [GRCh38]
Chr1:110151365 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.*102C>A single nucleotide variant Achromatopsia 4 [RCV001099586] Chr1:109603252 [GRCh38]
Chr1:110145874 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) single nucleotide variant Achromatopsia 4 [RCV001101564]|not provided [RCV001345429] Chr1:109605975 [GRCh38]
Chr1:110148597 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.591-9T>C single nucleotide variant Achromatopsia 4 [RCV001101565] Chr1:109606108 [GRCh38]
Chr1:110148730 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.293C>G (p.Pro98Arg) single nucleotide variant Inborn genetic diseases [RCV003353152]|not provided [RCV001069794] Chr1:109610050 [GRCh38]
Chr1:110152672 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) single nucleotide variant Achromatopsia 4 [RCV003346371]|Inborn genetic diseases [RCV003259156]|not provided [RCV001212260] Chr1:109603362 [GRCh38]
Chr1:110145984 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.461+10A>T single nucleotide variant Achromatopsia 4 [RCV001096137]|not provided [RCV001444654] Chr1:109608621 [GRCh38]
Chr1:110151243 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.62A>G (p.Lys21Arg) single nucleotide variant not provided [RCV001051118] Chr1:109612809 [GRCh38]
Chr1:110155431 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.-53-76A>G single nucleotide variant Achromatopsia 4 [RCV001097887] Chr1:109612999 [GRCh38]
Chr1:110155621 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.533G>A (p.Arg178Lys) single nucleotide variant not provided [RCV001043955] Chr1:109606365 [GRCh38]
Chr1:110148987 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.897G>A (p.Ala299=) single nucleotide variant not provided [RCV001207255] Chr1:109603522 [GRCh38]
Chr1:110146144 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.550A>G (p.Ile184Val) single nucleotide variant not provided [RCV001039036] Chr1:109606348 [GRCh38]
Chr1:110148970 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.591-1G>C single nucleotide variant Retinal dystrophy [RCV001073745] Chr1:109606100 [GRCh38]
Chr1:110148722 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.213T>G (p.Ala71=) single nucleotide variant Achromatopsia 4 [RCV001097886]|not provided [RCV002069651] Chr1:109610130 [GRCh38]
Chr1:110152752 [GRCh37]
Chr1:1p13.3
benign|uncertain significance
NM_001377295.2(GNAT2):c.520G>A (p.Val174Met) single nucleotide variant not provided [RCV001230547] Chr1:109606378 [GRCh38]
Chr1:110149000 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) single nucleotide variant Achromatopsia 4 [RCV001101563]|not provided [RCV002556043] Chr1:109603980 [GRCh38]
Chr1:110146602 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.966del (p.His322fs) deletion Achromatopsia 4 [RCV001334382] Chr1:109603453 [GRCh38]
Chr1:110146075 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.733G>A (p.Glu245Lys) single nucleotide variant not provided [RCV001341174] Chr1:109604092 [GRCh38]
Chr1:110146714 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.806A>T (p.Asn269Ile) single nucleotide variant not provided [RCV001360034] Chr1:109604019 [GRCh38]
Chr1:110146641 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.353C>T (p.Thr118Ile) single nucleotide variant not provided [RCV001362095] Chr1:109608739 [GRCh38]
Chr1:110151361 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.19G>T (p.Ala7Ser) single nucleotide variant not provided [RCV001344814] Chr1:109612852 [GRCh38]
Chr1:110155474 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.797T>C (p.Leu266Pro) single nucleotide variant not provided [RCV001345798] Chr1:109604028 [GRCh38]
Chr1:110146650 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.1035A>C (p.Lys345Asn) single nucleotide variant not provided [RCV001360375] Chr1:109603384 [GRCh38]
Chr1:110146006 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.887A>G (p.Tyr296Cys) single nucleotide variant not provided [RCV001318924] Chr1:109603532 [GRCh38]
Chr1:110146154 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.742C>A (p.His248Asn) single nucleotide variant not provided [RCV001346166] Chr1:109604083 [GRCh38]
Chr1:110146705 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.319C>G (p.Leu107Val) single nucleotide variant not provided [RCV001345275] Chr1:109608773 [GRCh38]
Chr1:110151395 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.728T>C (p.Met243Thr) single nucleotide variant not provided [RCV001347622] Chr1:109604097 [GRCh38]
Chr1:110146719 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.778G>T (p.Ala260Ser) single nucleotide variant not provided [RCV001361804] Chr1:109604047 [GRCh38]
Chr1:110146669 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.815A>T (p.Asp272Val) single nucleotide variant not provided [RCV001344315] Chr1:109604010 [GRCh38]
Chr1:110146632 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.590+5G>A single nucleotide variant not provided [RCV001352487] Chr1:109606303 [GRCh38]
Chr1:110148925 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.256C>T (p.Arg86Trp) single nucleotide variant not provided [RCV001322496] Chr1:109610087 [GRCh38]
Chr1:110152709 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.508A>G (p.Ser170Gly) single nucleotide variant not provided [RCV001370736] Chr1:109606390 [GRCh38]
Chr1:110149012 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.421G>A (p.Glu141Lys) single nucleotide variant not provided [RCV001299821] Chr1:109608671 [GRCh38]
Chr1:110151293 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.874G>A (p.Gly292Ser) single nucleotide variant not provided [RCV001314107] Chr1:109603951 [GRCh38]
Chr1:110146573 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr) single nucleotide variant Achromatopsia 4 [RCV003346526]|Inborn genetic diseases [RCV003169872]|not provided [RCV001367734] Chr1:109603388 [GRCh38]
Chr1:110146010 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.187C>T (p.Pro63Ser) single nucleotide variant not provided [RCV001368568] Chr1:109610156 [GRCh38]
Chr1:110152778 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.1025T>C (p.Ile342Thr) single nucleotide variant not provided [RCV001326594] Chr1:109603394 [GRCh38]
Chr1:110146016 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.896C>T (p.Ala299Val) single nucleotide variant not provided [RCV001356639] Chr1:109603523 [GRCh38]
Chr1:110146145 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.316C>G (p.Gln106Glu) single nucleotide variant not provided [RCV001325032] Chr1:109608776 [GRCh38]
Chr1:110151398 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_001377295.2(GNAT2):c.257G>C (p.Arg86Pro) single nucleotide variant not provided [RCV001339765] Chr1:109610086 [GRCh38]
Chr1:110152708 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.900G>C (p.Gly300=) single nucleotide variant not provided [RCV001481735] Chr1:109603519 [GRCh38]
Chr1:110146141 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.5del (p.Gly2fs) deletion not provided [RCV001389712] Chr1:109612866 [GRCh38]
Chr1:110155488 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.153A>G (p.Lys51=) single nucleotide variant not provided [RCV001465556] Chr1:109610473 [GRCh38]
Chr1:110153095 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.723T>C (p.Asn241=) single nucleotide variant not provided [RCV001474657] Chr1:109604102 [GRCh38]
Chr1:110146724 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.714C>T (p.Asp238=) single nucleotide variant not provided [RCV001393561] Chr1:109605976 [GRCh38]
Chr1:110148598 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.396G>A (p.Lys132=) single nucleotide variant not provided [RCV001464650] Chr1:109608696 [GRCh38]
Chr1:110151318 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.330G>T (p.Leu110=) single nucleotide variant not provided [RCV001505253] Chr1:109608762 [GRCh38]
Chr1:110151384 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.342T>C (p.Ile114=) single nucleotide variant not provided [RCV001407378] Chr1:109608750 [GRCh38]
Chr1:110151372 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.522G>A (p.Val174=) single nucleotide variant not provided [RCV001408838] Chr1:109606376 [GRCh38]
Chr1:110148998 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.720+8G>T single nucleotide variant not provided [RCV001456283] Chr1:109605962 [GRCh38]
Chr1:110148584 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.777T>C (p.Phe259=) single nucleotide variant not provided [RCV001488224] Chr1:109604048 [GRCh38]
Chr1:110146670 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.-139G>A single nucleotide variant not provided [RCV001654373] Chr1:109619568 [GRCh38]
Chr1:110162190 [GRCh37]
Chr1:1p13.3
benign
NM_001377295.2(GNAT2):c.570C>T (p.Ser190=) single nucleotide variant not provided [RCV001434663] Chr1:109606328 [GRCh38]
Chr1:110148950 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.874+12G>A single nucleotide variant not provided [RCV001427715] Chr1:109603939 [GRCh38]
Chr1:110146561 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.720+9C>T single nucleotide variant not provided [RCV001479334] Chr1:109605961 [GRCh38]
Chr1:110148583 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.183T>C (p.Tyr61=) single nucleotide variant not provided [RCV001462414] Chr1:109610160 [GRCh38]
Chr1:110152782 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.274G>T (p.Gly92Cys) single nucleotide variant not provided [RCV001896368] Chr1:109610069 [GRCh38]
Chr1:110152691 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.551T>A (p.Ile184Asn) single nucleotide variant not provided [RCV001945107] Chr1:109606347 [GRCh38]
Chr1:110148969 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.304-6T>C single nucleotide variant not provided [RCV001895177] Chr1:109608794 [GRCh38]
Chr1:110151416 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.590+1del deletion not provided [RCV001970078] Chr1:109606307 [GRCh38]
Chr1:110148929 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.826del (p.Glu276fs) deletion not provided [RCV001987978] Chr1:109603999 [GRCh38]
Chr1:110146621 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.545C>T (p.Thr182Met) single nucleotide variant not provided [RCV001971173] Chr1:109606353 [GRCh38]
Chr1:110148975 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.310G>A (p.Gly104Arg) single nucleotide variant not provided [RCV001971518] Chr1:109608782 [GRCh38]
Chr1:110151404 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1 copy number loss not provided [RCV001827629] Chr1:108346477..110177123 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.781G>A (p.Ala261Thr) single nucleotide variant not provided [RCV001892325] Chr1:109604044 [GRCh38]
Chr1:110146666 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.679C>G (p.Leu227Val) single nucleotide variant not provided [RCV002040055] Chr1:109606011 [GRCh38]
Chr1:110148633 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.887ATG[2] (p.Asp298del) microsatellite not provided [RCV002043680] Chr1:109603524..109603526 [GRCh38]
Chr1:110146146..110146148 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.834C>G (p.Ile278Met) single nucleotide variant not provided [RCV001928320] Chr1:109603991 [GRCh38]
Chr1:110146613 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2
pathogenic
NM_001377295.2(GNAT2):c.550A>T (p.Ile184Phe) single nucleotide variant not provided [RCV001890212] Chr1:109606348 [GRCh38]
Chr1:110148970 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.821T>C (p.Phe274Ser) single nucleotide variant not provided [RCV002043399] Chr1:109604004 [GRCh38]
Chr1:110146626 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.498G>T (p.Glu166Asp) single nucleotide variant not provided [RCV001903715] Chr1:109606400 [GRCh38]
Chr1:110149022 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.932A>G (p.Asn311Ser) single nucleotide variant not provided [RCV001961807] Chr1:109603487 [GRCh38]
Chr1:110146109 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.303G>A (p.Ala101=) single nucleotide variant not provided [RCV001999267] Chr1:109610040 [GRCh38]
Chr1:110152662 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.118G>A (p.Gly40Ser) single nucleotide variant not provided [RCV002038420] Chr1:109612753 [GRCh38]
Chr1:110155375 [GRCh37]
Chr1:1p13.3
uncertain significance
NC_000001.10:g.(?_110145976)_(110173774_?)dup duplication Hereditary spastic paraplegia 63 [RCV001916415] Chr1:110145976..110173774 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.721-20A>G single nucleotide variant not provided [RCV002026219] Chr1:109604124 [GRCh38]
Chr1:110146746 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.297C>A (p.Ser99Arg) single nucleotide variant not provided [RCV002050230] Chr1:109610046 [GRCh38]
Chr1:110152668 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.949A>G (p.Lys317Glu) single nucleotide variant not provided [RCV001898891] Chr1:109603470 [GRCh38]
Chr1:110146092 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.303+3A>G single nucleotide variant not provided [RCV002030661] Chr1:109610037 [GRCh38]
Chr1:110152659 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.302C>T (p.Ala101Val) single nucleotide variant not provided [RCV002029588] Chr1:109610041 [GRCh38]
Chr1:110152663 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.273G>A (p.Leu91=) single nucleotide variant not provided [RCV001883262] Chr1:109610070 [GRCh38]
Chr1:110152692 [GRCh37]
Chr1:1p13.3
likely benign|uncertain significance
NM_001377295.2(GNAT2):c.719T>C (p.Val240Ala) single nucleotide variant not provided [RCV001897657] Chr1:109605971 [GRCh38]
Chr1:110148593 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.554T>C (p.Ile185Thr) single nucleotide variant not provided [RCV001932031] Chr1:109606344 [GRCh38]
Chr1:110148966 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.304-9G>C single nucleotide variant not provided [RCV002187483] Chr1:109608797 [GRCh38]
Chr1:110151419 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.546G>T (p.Thr182=) single nucleotide variant not provided [RCV002110055] Chr1:109606352 [GRCh38]
Chr1:110148974 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.888T>C (p.Tyr296=) single nucleotide variant not provided [RCV002075625] Chr1:109603531 [GRCh38]
Chr1:110146153 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.453C>T (p.Ser151=) single nucleotide variant not provided [RCV002189823] Chr1:109608639 [GRCh38]
Chr1:110151261 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.618C>T (p.Ser206=) single nucleotide variant not provided [RCV002165557] Chr1:109606072 [GRCh38]
Chr1:110148694 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.304-18C>T single nucleotide variant not provided [RCV002090339] Chr1:109608806 [GRCh38]
Chr1:110151428 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.590+17C>A single nucleotide variant not provided [RCV002150660] Chr1:109606291 [GRCh38]
Chr1:110148913 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.54G>A (p.Glu18=) single nucleotide variant not provided [RCV002207998] Chr1:109612817 [GRCh38]
Chr1:110155439 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.423G>A (p.Glu141=) single nucleotide variant not provided [RCV002212893] Chr1:109608669 [GRCh38]
Chr1:110151291 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.304-4A>C single nucleotide variant not provided [RCV002092702] Chr1:109608792 [GRCh38]
Chr1:110151414 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.162-18_162-17del microsatellite not provided [RCV002080077] Chr1:109610198..109610199 [GRCh38]
Chr1:110152820..110152821 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.1053C>T (p.Cys351=) single nucleotide variant not provided [RCV002114166] Chr1:109603366 [GRCh38]
Chr1:110145988 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.462-5T>C single nucleotide variant not provided [RCV002103775] Chr1:109606441 [GRCh38]
Chr1:110149063 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.303+18T>C single nucleotide variant not provided [RCV002163587] Chr1:109610022 [GRCh38]
Chr1:110152644 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.119-16G>A single nucleotide variant not provided [RCV002183810] Chr1:109610523 [GRCh38]
Chr1:110153145 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.580T>C (p.Leu194=) single nucleotide variant not provided [RCV002164127] Chr1:109606318 [GRCh38]
Chr1:110148940 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.495T>C (p.Pro165=) single nucleotide variant not provided [RCV002198835] Chr1:109606403 [GRCh38]
Chr1:110149025 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.875-15T>A single nucleotide variant not provided [RCV002136034] Chr1:109603559 [GRCh38]
Chr1:110146181 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.720+17T>C single nucleotide variant not provided [RCV002140986] Chr1:109605953 [GRCh38]
Chr1:110148575 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.129G>A (p.Glu43=) single nucleotide variant not provided [RCV002179502] Chr1:109610497 [GRCh38]
Chr1:110153119 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.721-19T>C single nucleotide variant not provided [RCV002136142] Chr1:109604123 [GRCh38]
Chr1:110146745 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.877A>G (p.Asn293Asp) single nucleotide variant not provided [RCV003110245] Chr1:109603542 [GRCh38]
Chr1:110146164 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.838A>G (p.Lys280Glu) single nucleotide variant not provided [RCV003117991] Chr1:109603987 [GRCh38]
Chr1:110146609 [GRCh37]
Chr1:1p13.3
uncertain significance
NC_000001.10:g.(?_110151229)_(110151430_?)del deletion not provided [RCV003116348] Chr1:110151229..110151430 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.922C>G (p.Leu308Val) single nucleotide variant not provided [RCV002295656] Chr1:109603497 [GRCh38]
Chr1:110146119 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.779C>T (p.Ala260Val) single nucleotide variant not provided [RCV003074837] Chr1:109604046 [GRCh38]
Chr1:110146668 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.725G>A (p.Arg242His) single nucleotide variant not provided [RCV002681636] Chr1:109604100 [GRCh38]
Chr1:110146722 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.138G>A (p.Lys46=) single nucleotide variant not provided [RCV002947811] Chr1:109610488 [GRCh38]
Chr1:110153110 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.162-2A>G single nucleotide variant not provided [RCV002819492] Chr1:109610183 [GRCh38]
Chr1:110152805 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.495_496insAG (p.Glu166fs) insertion not provided [RCV003037605] Chr1:109606402..109606403 [GRCh38]
Chr1:110149024..110149025 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.162-13C>T single nucleotide variant not provided [RCV002658944] Chr1:109610194 [GRCh38]
Chr1:110152816 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.462-12A>G single nucleotide variant not provided [RCV002870788] Chr1:109606448 [GRCh38]
Chr1:110149070 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.762T>C (p.Cys254=) single nucleotide variant not provided [RCV002820965] Chr1:109604063 [GRCh38]
Chr1:110146685 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.118+13_118+14delinsAA indel not provided [RCV002695837] Chr1:109612739..109612740 [GRCh38]
Chr1:110155361..110155362 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.51G>T (p.Lys17Asn) single nucleotide variant not provided [RCV002636502] Chr1:109612820 [GRCh38]
Chr1:110155442 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.454G>A (p.Ala152Thr) single nucleotide variant Inborn genetic diseases [RCV002781875] Chr1:109608638 [GRCh38]
Chr1:110151260 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.304-1G>A single nucleotide variant not provided [RCV002876651] Chr1:109608789 [GRCh38]
Chr1:110151411 [GRCh37]
Chr1:1p13.3
likely pathogenic
NM_001377295.2(GNAT2):c.461+6A>G single nucleotide variant not provided [RCV002850980] Chr1:109608625 [GRCh38]
Chr1:110151247 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.875G>A (p.Gly292Asp) single nucleotide variant not provided [RCV003006365] Chr1:109603544 [GRCh38]
Chr1:110146166 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.875-4C>A single nucleotide variant not provided [RCV002890472] Chr1:109603548 [GRCh38]
Chr1:110146170 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.821_822del (p.Leu273_Phe274insTer) deletion not provided [RCV002929085] Chr1:109604003..109604004 [GRCh38]
Chr1:110146625..110146626 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.744T>C (p.His248=) single nucleotide variant not provided [RCV003007498] Chr1:109604081 [GRCh38]
Chr1:110146703 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.279C>T (p.Ile93=) single nucleotide variant not provided [RCV002700210] Chr1:109610064 [GRCh38]
Chr1:110152686 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.825G>A (p.Glu275=) single nucleotide variant not provided [RCV002624575] Chr1:109604000 [GRCh38]
Chr1:110146622 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.590+6T>C single nucleotide variant not provided [RCV002572574] Chr1:109606302 [GRCh38]
Chr1:110148924 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.303+8A>G single nucleotide variant not provided [RCV002893927] Chr1:109610032 [GRCh38]
Chr1:110152654 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.118+20G>A single nucleotide variant not provided [RCV002626776] Chr1:109612733 [GRCh38]
Chr1:110155355 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.720G>C (p.Val240=) single nucleotide variant not provided [RCV002792051] Chr1:109605970 [GRCh38]
Chr1:110148592 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.80C>T (p.Ala27Val) single nucleotide variant Inborn genetic diseases [RCV002877790] Chr1:109612791 [GRCh38]
Chr1:110155413 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.590+10T>C single nucleotide variant not provided [RCV003045925] Chr1:109606298 [GRCh38]
Chr1:110148920 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.163A>G (p.Ile55Val) single nucleotide variant not provided [RCV003027615] Chr1:109610180 [GRCh38]
Chr1:110152802 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.574A>G (p.Lys192Glu) single nucleotide variant not provided [RCV002806381] Chr1:109606324 [GRCh38]
Chr1:110148946 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.172C>T (p.Gln58Ter) single nucleotide variant not provided [RCV002714836] Chr1:109610171 [GRCh38]
Chr1:110152793 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.896C>A (p.Ala299Glu) single nucleotide variant not provided [RCV003061521] Chr1:109603523 [GRCh38]
Chr1:110146145 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.1058T>C (p.Leu353Pro) single nucleotide variant not provided [RCV003029971] Chr1:109603361 [GRCh38]
Chr1:110145983 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.701T>C (p.Leu234Pro) single nucleotide variant not provided [RCV002937763] Chr1:109605989 [GRCh38]
Chr1:110148611 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala) single nucleotide variant Achromatopsia 4 [RCV003348857]|Inborn genetic diseases [RCV002583948]|not provided [RCV002583947] Chr1:109610062 [GRCh38]
Chr1:110152684 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.938G>A (p.Arg313Gln) single nucleotide variant not provided [RCV002603831] Chr1:109603481 [GRCh38]
Chr1:110146103 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.496del (p.Glu166fs) deletion not provided [RCV002725599] Chr1:109606402 [GRCh38]
Chr1:110149024 [GRCh37]
Chr1:1p13.3
pathogenic
NM_001377295.2(GNAT2):c.720G>A (p.Val240=) single nucleotide variant not provided [RCV003049609] Chr1:109605970 [GRCh38]
Chr1:110148592 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.627G>A (p.Lys209=) single nucleotide variant not provided [RCV002586971] Chr1:109606063 [GRCh38]
Chr1:110148685 [GRCh37]
Chr1:1p13.3
likely benign
NM_001377295.2(GNAT2):c.463T>C (p.Tyr155His) single nucleotide variant not provided [RCV002588059] Chr1:109606435 [GRCh38]
Chr1:110149057 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.970A>G (p.Thr324Ala) single nucleotide variant not provided [RCV002584211] Chr1:109603449 [GRCh38]
Chr1:110146071 [GRCh37]
Chr1:1p13.3
uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 copy number loss not provided [RCV003483272] Chr1:109483388..112293512 [GRCh37]
Chr1:1p13.3-13.2
pathogenic
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
GRCh37/hg19 1p13.3(chr1:109944288-110157840)x1 copy number loss not provided [RCV003483283] Chr1:109944288..110157840 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.524T>C (p.Leu175Pro) single nucleotide variant not provided [RCV003547278] Chr1:109606374 [GRCh38]
Chr1:110148996 [GRCh37]
Chr1:1p13.3
uncertain significance
NM_001377295.2(GNAT2):c.304-7A>C single nucleotide variant not provided [RCV003545133] Chr1:109608795 [GRCh38]
Chr1:110151417 [GRCh37]
Chr1:1p13.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:87
Count of miRNA genes:86
Interacting mature miRNAs:87
Transcripts:ENST00000351050
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
G42982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,145,739 - 110,145,978UniSTSGRCh37
Build 361109,947,262 - 109,947,501RGDNCBI36
Celera1108,415,038 - 108,415,277RGD
Cytogenetic Map1p13.1UniSTS
HuRef1108,038,248 - 108,038,487UniSTS
GDB:376941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,148,895 - 110,149,095UniSTSGRCh37
Build 361109,950,418 - 109,950,618RGDNCBI36
Celera1108,418,194 - 108,418,394RGD
Cytogenetic Map1p13.1UniSTS
HuRef1108,041,404 - 108,041,604UniSTS
SHGC-75263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,145,874 - 110,145,994UniSTSGRCh37
Build 361109,947,397 - 109,947,517RGDNCBI36
Celera1108,415,173 - 108,415,293RGD
Cytogenetic Map1p13.1UniSTS
HuRef1108,038,383 - 108,038,503UniSTS
TNG Radiation Hybrid Map159785.0UniSTS
GeneMap99-GB4 RH Map1339.54UniSTS
NCBI RH Map1834.3UniSTS


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 entire extraembryonic component
High
Medium 1 1 1
Low 66 1 126 105 172 106 30 16 46 117 139 86
Below cutoff 74 3 119 80 115 82 43 28 53 136 102 151 1 2

Sequence


RefSeq Acc Id: ENST00000351050   ⟹   ENSP00000251337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,603,254 - 109,613,084 (-)Ensembl
RefSeq Acc Id: ENST00000622865   ⟹   ENSP00000482596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,608,721 - 109,619,929 (-)Ensembl
RefSeq Acc Id: ENST00000679935   ⟹   ENSP00000505083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1109,603,091 - 109,619,616 (-)Ensembl
RefSeq Acc Id: NM_001377295   ⟹   NP_001364224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,603,091 - 109,619,616 (-)NCBI
T2T-CHM13v2.01109,635,806 - 109,652,336 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379232   ⟹   NP_001366161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,603,091 - 109,619,616 (-)NCBI
T2T-CHM13v2.01109,635,806 - 109,652,336 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005272   ⟹   NP_005263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,603,091 - 109,613,084 (-)NCBI
GRCh371110,145,889 - 110,155,705 (-)ENTREZGENE
Build 361109,947,412 - 109,957,228 (-)NCBI Archive
HuRef1108,038,398 - 108,048,214 (-)ENTREZGENE
CHM1_11110,260,808 - 110,270,624 (-)NCBI
T2T-CHM13v2.01109,635,806 - 109,645,799 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005263   ⟸   NM_005272
- UniProtKB: P19087 (UniProtKB/Swiss-Prot),   Q5T697 (UniProtKB/TrEMBL),   A0A024R097 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364224   ⟸   NM_001377295
- UniProtKB: P19087 (UniProtKB/Swiss-Prot),   A0A024R097 (UniProtKB/TrEMBL),   Q5T697 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366161   ⟸   NM_001379232
- UniProtKB: P19087 (UniProtKB/Swiss-Prot),   A0A024R097 (UniProtKB/TrEMBL),   Q5T697 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000482596   ⟸   ENST00000622865
RefSeq Acc Id: ENSP00000251337   ⟸   ENST00000351050
RefSeq Acc Id: ENSP00000505083   ⟸   ENST00000679935
Protein Domains
G-alpha

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19087-F1-model_v2 AlphaFold P19087 1-354 view protein structure

Promoters
RGD ID:6856498
Promoter ID:EPDNEW_H1414
Type:initiation region
Name:GNAT2_2
Description:G protein subunit alpha transducin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1416  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,613,083 - 109,613,143EPDNEW
RGD ID:6856502
Promoter ID:EPDNEW_H1416
Type:multiple initiation site
Name:GNAT2_1
Description:G protein subunit alpha transducin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1414  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381109,620,079 - 109,620,139EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4394 AgrOrtholog
COSMIC GNAT2 COSMIC
Ensembl Genes ENSG00000134183 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000351050 ENTREZGENE
  ENST00000351050.8 UniProtKB/Swiss-Prot
  ENST00000622865.1 UniProtKB/TrEMBL
  ENST00000679935 ENTREZGENE
  ENST00000679935.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134183 GTEx
HGNC ID HGNC:4394 ENTREZGENE
Human Proteome Map GNAT2 Human Proteome Map
InterPro Gprotein_alpha_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gprotein_alpha_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GproteinA_insert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2780 ENTREZGENE
OMIM 139340 OMIM
PANTHER GUANINE NUCLEOTIDE-BINDING PROTEIN G(T) SUBUNIT ALPHA-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10218 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G-alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28774 PharmGKB
PRINTS GPROTEINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPROTEINAI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R097 ENTREZGENE
  A0A087WZE5_HUMAN UniProtKB/TrEMBL
  GNAT2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T697 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A024R097 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 GNAT2  G protein subunit alpha transducin 2  GNAT2  guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2  Symbol and/or name change 5135510 APPROVED