NCAPG2 (non-SMC condensin II complex subunit G2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: NCAPG2 (non-SMC condensin II complex subunit G2) Homo sapiens
Analyze
Symbol: NCAPG2
Name: non-SMC condensin II complex subunit G2
RGD ID: 1603208
HGNC Page HGNC:21904
Description: Enables methylated histone binding activity. Predicted to be involved in mitotic sister chromatid segregation; positive regulation of chromosome condensation; and regulation of chromosome segregation. Predicted to act upstream of with a positive effect on erythrocyte differentiation. Predicted to act upstream of with a negative effect on transcription by RNA polymerase II. Predicted to act upstream of or within inner cell mass cell proliferation. Located in nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3KS; CAP-G2; CAPG2; chromosome-associated protein G2; condensin-2 complex subunit G2; FLJ20311; hCAP-G2; leucine zipper protein 5; LUZP5; more than blood homolog; MTB; non-SMC condensin II complex, subunit G2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387158,631,169 - 158,704,804 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7158,631,169 - 158,704,804 (-)EnsemblGRCh38hg38GRCh38
GRCh377158,423,861 - 158,497,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367158,116,764 - 158,190,281 (-)NCBINCBI36Build 36hg18NCBI36
Celera7152,856,604 - 152,930,122 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7152,163,223 - 152,236,542 (-)NCBIHuRef
CHM1_17158,432,826 - 158,505,899 (-)NCBICHM1_1
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27157,628,658 - 157,701,735 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2-butoxyethanol  (ISO)
2-palmitoylglycerol  (EXP)
3',5'-cyclic UMP  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
arsenite(3-)  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
diallyl trisulfide  (EXP)
dioxygen  (EXP)
Enterolactone  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lidocaine  (ISO)
lucanthone  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
trovafloxacin  (ISO)
valproic acid  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
condensed nuclear chromosome  (IEA,ISO)
condensin complex  (IBA,IEA,NAS)
membrane  (HDA)
nuclear speck  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12690205   PMID:12853948   PMID:14532007   PMID:14702039   PMID:14729962   PMID:15489334   PMID:16344560   PMID:16565220   PMID:17268547   PMID:18029348   PMID:18718915  
PMID:19946888   PMID:20622854   PMID:21498573   PMID:21873635   PMID:23956138   PMID:25192599   PMID:25921289   PMID:26166704   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26760575  
PMID:26972000   PMID:27025967   PMID:27114453   PMID:27173435   PMID:27862966   PMID:28514442   PMID:28675297   PMID:29467282   PMID:29615496   PMID:29656893   PMID:29955894   PMID:30561431  
PMID:30609410   PMID:30804394   PMID:30833792   PMID:31073040   PMID:31091453   PMID:31176678   PMID:31240132   PMID:31678930   PMID:31871319   PMID:32628020   PMID:32694731   PMID:32807901  
PMID:32897418   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34373451   PMID:34818025   PMID:35271311   PMID:35563538   PMID:35696571   PMID:36114006  
PMID:36168627   PMID:36215168   PMID:36265182   PMID:37071664   PMID:37248471   PMID:37544634   PMID:37827155   PMID:38166947   PMID:38701261  


Genomics

Comparative Map Data
NCAPG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387158,631,169 - 158,704,804 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7158,631,169 - 158,704,804 (-)EnsemblGRCh38hg38GRCh38
GRCh377158,423,861 - 158,497,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367158,116,764 - 158,190,281 (-)NCBINCBI36Build 36hg18NCBI36
Celera7152,856,604 - 152,930,122 (-)NCBICelera
Cytogenetic Map7q36.3NCBI
HuRef7152,163,223 - 152,236,542 (-)NCBIHuRef
CHM1_17158,432,826 - 158,505,899 (-)NCBICHM1_1
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27157,628,658 - 157,701,735 (-)NCBI
Ncapg2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912116,368,969 - 116,427,152 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12116,369,022 - 116,427,351 (+)EnsemblGRCm39 Ensembl
GRCm3812116,405,351 - 116,463,532 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12116,405,402 - 116,463,731 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712117,643,875 - 117,702,004 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612116,847,398 - 116,905,738 (+)NCBIMGSCv36mm8
Cytogenetic Map12F2NCBI
cM Map1262.65NCBI
Ncapg2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86143,484,651 - 143,561,850 (+)NCBIGRCr8
mRatBN7.26137,342,449 - 137,418,083 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6137,342,943 - 137,415,159 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.06144,291,313 - 144,362,454 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6144,291,974 - 144,363,947 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06153,219,779 - 153,291,396 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46143,693,508 - 143,751,084 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16143,699,694 - 143,748,409 (+)NCBI
Celera6135,005,891 - 135,080,045 (+)NCBICelera
Cytogenetic Map6q33NCBI
Ncapg2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955579895,249 - 955,517 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955579896,507 - 955,515 (-)NCBIChiLan1.0ChiLan1.0
NCAPG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26195,118,898 - 195,191,226 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1747,129,161 - 47,201,491 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07150,441,385 - 150,513,391 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17161,905,762 - 161,977,093 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7161,905,762 - 161,977,093 (-)Ensemblpanpan1.1panPan2
NCAPG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11620,649,088 - 20,712,208 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1620,649,489 - 20,712,208 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1621,154,091 - 21,218,358 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01622,380,599 - 22,444,279 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1622,380,583 - 22,444,286 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11620,747,809 - 20,812,041 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01621,332,079 - 21,396,341 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01621,386,219 - 21,450,501 (-)NCBIUU_Cfam_GSD_1.0
Ncapg2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118643,581 - 702,013 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936856567,306 - 625,800 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936856567,765 - 625,745 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NCAPG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl18653,224 - 717,200 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.118653,182 - 713,825 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NCAPG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121126,658,802 - 126,731,005 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21126,658,702 - 126,728,510 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607223,054,778 - 23,128,409 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ncapg2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624800432,258 - 498,718 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624800432,307 - 494,361 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NCAPG2
74 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1 copy number loss See cases [RCV000050856] Chr7:155007022..159135526 [GRCh38]
Chr7:154798732..158928217 [GRCh37]
Chr7:154429665..158620978 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:158154429-159135526)x1 copy number loss See cases [RCV000050987] Chr7:158154429..159135526 [GRCh38]
Chr7:157947121..158928217 [GRCh37]
Chr7:157639882..158620978 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:157271429-159282390)x3 copy number gain See cases [RCV000052126] Chr7:157271429..159282390 [GRCh38]
Chr7:157064123..159075079 [GRCh37]
Chr7:156756884..158767840 [NCBI36]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.3(chr7:158297823-159034606)x3 copy number gain See cases [RCV000052128] Chr7:158297823..159034606 [GRCh38]
Chr7:158090515..158827297 [GRCh37]
Chr7:157783276..158520058 [NCBI36]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.3(chr7:158703702-159117047)x3 copy number gain See cases [RCV000052129] Chr7:158703702..159117047 [GRCh38]
Chr7:158496393..158909738 [GRCh37]
Chr7:158189154..158602499 [NCBI36]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1 copy number loss See cases [RCV000054190] Chr7:152332476..159296617 [GRCh38]
Chr7:152029561..159089306 [GRCh37]
Chr7:151660494..158782067 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1 copy number loss See cases [RCV000054191] Chr7:152918472..159307523 [GRCh38]
Chr7:152615557..159100212 [GRCh37]
Chr7:152246490..158792973 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1 copy number loss See cases [RCV000054192] Chr7:152920128..159332714 [GRCh38]
Chr7:152617213..159125404 [GRCh37]
Chr7:152248146..158818165 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:153833092-159282531)x1 copy number loss See cases [RCV000054193] Chr7:153833092..159282531 [GRCh38]
Chr7:153530177..159075220 [GRCh37]
Chr7:153161110..158767981 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:156544324-159325876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054194]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054194]|See cases [RCV000054194] Chr7:156544324..159325876 [GRCh38]
Chr7:156337018..159118566 [GRCh37]
Chr7:156029779..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:158568512-159281301)x1 copy number loss See cases [RCV000054203] Chr7:158568512..159281301 [GRCh38]
Chr7:158361204..159073990 [GRCh37]
Chr7:158053965..158766751 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_017760.6(NCAPG2):c.3323T>C (p.Val1108Ala) single nucleotide variant Malignant melanoma [RCV000067799] Chr7:158644346 [GRCh38]
Chr7:158437038 [GRCh37]
Chr7:158129799 [NCBI36]
Chr7:7q36.3		 not provided
NM_001281932.1(NCAPG2):c.79-3719C>T single nucleotide variant Lung cancer [RCV000105919] Chr7:158697216 [GRCh38]
Chr7:158489907 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158412279-159126310)x1 copy number loss See cases [RCV000515603] Chr7:158412279..159126310 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh38/hg38 7q36.3(chr7:158671461-159127509)x3 copy number gain See cases [RCV000133781] Chr7:158671461..159127509 [GRCh38]
Chr7:158464153..158920200 [GRCh37]
Chr7:158156914..158612961 [NCBI36]
Chr7:7q36.3		 benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1 copy number loss See cases [RCV000135826] Chr7:153908499..159325876 [GRCh38]
Chr7:153605584..159118566 [GRCh37]
Chr7:153236517..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1 copy number loss See cases [RCV000135662] Chr7:155501171..159325876 [GRCh38]
Chr7:155293866..159118566 [GRCh37]
Chr7:154986627..158811327 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1 copy number loss See cases [RCV000136125] Chr7:151378879..158923762 [GRCh38]
Chr7:151075965..158716453 [GRCh37]
Chr7:150706898..158409214 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic|benign
GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1 copy number loss See cases [RCV000136143] Chr7:152860576..159325876 [GRCh38]
Chr7:152557661..159118566 [GRCh37]
Chr7:152188594..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1 copy number loss See cases [RCV000136593] Chr7:154939710..159325876 [GRCh38]
Chr7:154731420..159118566 [GRCh37]
Chr7:154362353..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:157028893-159335865)x1 copy number loss See cases [RCV000136025] Chr7:157028893..159335865 [GRCh38]
Chr7:156821587..159128555 [GRCh37]
Chr7:156514348..158821316 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:157898696-159295947)x3 copy number gain See cases [RCV000136845] Chr7:157898696..159295947 [GRCh38]
Chr7:157691388..159088636 [GRCh37]
Chr7:157384149..158781397 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1 copy number loss See cases [RCV000136940] Chr7:152807205..159325876 [GRCh38]
Chr7:152504290..159118566 [GRCh37]
Chr7:152135223..158811327 [NCBI36]
Chr7:7q36.2-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3 copy number gain See cases [RCV000136683] Chr7:151104277..159325876 [GRCh38]
Chr7:150801364..159118566 [GRCh37]
Chr7:150432297..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg) single nucleotide variant NCAPG2-related condition [RCV003917831]|not specified [RCV000202760] Chr7:158656399 [GRCh38]
Chr7:158449091 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q36.3(chr7:157879987-158752871)x3 copy number gain See cases [RCV000138112] Chr7:157879987..158752871 [GRCh38]
Chr7:157672679..158545562 [GRCh37]
Chr7:157365440..158238323 [NCBI36]
Chr7:7q36.3		 likely benign
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3 copy number gain See cases [RCV000138167] Chr7:155379296..159335866 [GRCh38]
Chr7:155171991..159128556 [GRCh37]
Chr7:154864752..158821317 [NCBI36]
Chr7:7q36.3		 likely pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:157153628-159335866)x1 copy number loss See cases [RCV000138663] Chr7:157153628..159335866 [GRCh38]
Chr7:156946322..159128556 [GRCh37]
Chr7:156639083..158821317 [NCBI36]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.3085G>A (p.Val1029Ile) single nucleotide variant not specified [RCV000202960] Chr7:158646554 [GRCh38]
Chr7:158439246 [GRCh37]
Chr7:7q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3 copy number gain See cases [RCV000139725] Chr7:152428852..159335865 [GRCh38]
Chr7:152125937..159128555 [GRCh37]
Chr7:151756870..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1 copy number loss See cases [RCV000141247] Chr7:155574967..159335866 [GRCh38]
Chr7:155367662..159128556 [GRCh37]
Chr7:155060423..158821317 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1 copy number loss See cases [RCV000142635] Chr7:155262313..159117047 [GRCh38]
Chr7:155054023..158909738 [GRCh37]
Chr7:154684956..158602499 [NCBI36]
Chr7:7q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_017760.7(NCAPG2):c.1982T>C (p.Val661Ala) single nucleotide variant not specified [RCV004307370] Chr7:158662201 [GRCh38]
Chr7:158454893 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158436986-158935236)x3 copy number gain See cases [RCV000446771] Chr7:158436986..158935236 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158424788-158668137)x3 copy number gain See cases [RCV000447195] Chr7:158424788..158668137 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158198277-158626229)x3 copy number gain See cases [RCV000445769] Chr7:158198277..158626229 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q36.3(chr7:158430855-159119707)x1 copy number loss See cases [RCV000447871] Chr7:158430855..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158311346-158945929)x3 copy number gain See cases [RCV000448280] Chr7:158311346..158945929 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1 copy number loss See cases [RCV000512112] Chr7:151167135..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156320289-159119707)x3 copy number gain See cases [RCV000511617] Chr7:156320289..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3 copy number gain See cases [RCV000511775] Chr7:151566053..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158156733-159119707)x1 copy number loss See cases [RCV000510888] Chr7:158156733..159119707 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
GRCh37/hg19 7q36.3(chr7:158462108-159019897)x4 copy number gain See cases [RCV000511014] Chr7:158462108..159019897 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158393513-158727591)x3 copy number gain not provided [RCV000682829] Chr7:158393513..158727591 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1 copy number loss not provided [RCV000682907] Chr7:153958355..159119707 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:157714334-159119707)x3 copy number gain not provided [RCV000682884] Chr7:157714334..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.14:g.(?_152454659)_(158705768_?)del deletion Autism [RCV000754327] Chr7:152454659..158705768 [GRCh38]
Chr7:7q36.1-36.3		 likely pathogenic
Single allele duplication Autism [RCV000754329] Chr7:158603240..159108319 [GRCh38]
Chr7:7q36.3		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158329903-159122532)x3 copy number gain not provided [RCV000747227] Chr7:158329903..159122532 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158389294-158785846)x3 copy number gain not provided [RCV000747228] Chr7:158389294..158785846 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158460186-158460396)x1 copy number loss not provided [RCV000747229] Chr7:158460186..158460396 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158460186-158460943)x1 copy number loss not provided [RCV000747230] Chr7:158460186..158460943 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158460186-158460995)x1 copy number loss not provided [RCV000747231] Chr7:158460186..158460995 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158460186-158468437)x1 copy number loss not provided [RCV000747232] Chr7:158460186..158468437 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158460241-158460995)x3 copy number gain not provided [RCV000747233] Chr7:158460241..158460995 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.1572T>C (p.Asn524=) single nucleotide variant NCAPG2-related condition [RCV003925875]|not provided [RCV000947090] Chr7:158664658 [GRCh38]
Chr7:158457350 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.873C>T (p.Phe291=) single nucleotide variant NCAPG2-related condition [RCV003926095]|not provided [RCV000959000] Chr7:158683351 [GRCh38]
Chr7:158476043 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.1165T>C (p.Tyr389His) single nucleotide variant NCAPG2-related condition [RCV003918518]|not provided [RCV000973139] Chr7:158675638 [GRCh38]
Chr7:158468330 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.2898A>C (p.Ala966=) single nucleotide variant not provided [RCV000904796] Chr7:158652329 [GRCh38]
Chr7:158445021 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_017760.7(NCAPG2):c.1840A>G (p.Asn614Asp) single nucleotide variant NCAPG2-related condition [RCV003916137]|not provided [RCV000963897] Chr7:158662343 [GRCh38]
Chr7:158455035 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.537+4T>C single nucleotide variant NCAPG2-related condition [RCV003920533]|not provided [RCV000881352] Chr7:158690564 [GRCh38]
Chr7:158483256 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.1798G>C (p.Glu600Gln) single nucleotide variant NCAPG2-related condition [RCV003920722]|not provided [RCV000888732] Chr7:158664201 [GRCh38]
Chr7:158456893 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.2381C>T (p.Thr794Met) single nucleotide variant NCAPG2-related condition [RCV003910621]|not provided [RCV000892584] Chr7:158656267 [GRCh38]
Chr7:158448959 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.1147-8A>G single nucleotide variant not provided [RCV000977841] Chr7:158675664 [GRCh38]
Chr7:158468356 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.1469G>A (p.Arg490Lys) single nucleotide variant not specified [RCV004284449] Chr7:158671524 [GRCh38]
Chr7:158464216 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2154G>A (p.Gln718=) single nucleotide variant NCAPG2-related condition [RCV003926094]|not provided [RCV000958999] Chr7:158656612 [GRCh38]
Chr7:158449304 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q36.3(chr7:158389342-159058049)x3 copy number gain not provided [RCV000849006] Chr7:158389342..159058049 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158464733-158562397)x3 copy number gain not provided [RCV000849870] Chr7:158464733..158562397 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158322876-158529719)x3 copy number gain not provided [RCV000848783] Chr7:158322876..158529719 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1825A>G (p.Lys609Glu) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV000782269] Chr7:158662358 [GRCh38]
Chr7:158455050 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_017760.7(NCAPG2):c.2548A>C (p.Thr850Pro) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV000782271] Chr7:158655216 [GRCh38]
Chr7:158447908 [GRCh37]
Chr7:7q36.3		 pathogenic
NM_017760.7(NCAPG2):c.975G>A (p.Glu325=) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV002505290]|not provided [RCV000895007] Chr7:158680766 [GRCh38]
Chr7:158473458 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.2078C>T (p.Thr693Met) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV000782270] Chr7:158656688 [GRCh38]
Chr7:158449380 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156629234-159119707)x1 copy number loss not provided [RCV000847648] Chr7:156629234..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158462108-158562397)x3 copy number gain not provided [RCV000849408] Chr7:158462108..158562397 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:157778048-158889282)x3 copy number gain not provided [RCV001006036] Chr7:157778048..158889282 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158279412-158828069)x3 copy number gain See cases [RCV001194593] Chr7:158279412..158828069 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_017760.7(NCAPG2):c.2856C>G (p.Asp952Glu) single nucleotide variant NCAPG2-related condition [RCV003910468]|not provided [RCV000885333] Chr7:158652371 [GRCh38]
Chr7:158445063 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.130A>G (p.Arg44Gly) single nucleotide variant NCAPG2-related condition [RCV003920723]|not provided [RCV000888733] Chr7:158693446 [GRCh38]
Chr7:158486138 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.125T>A (p.Leu42Ter) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV002470584] Chr7:158693451 [GRCh38]
Chr7:158486143 [GRCh37]
Chr7:7q36.3		 likely pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158449486-158923491)x4 copy number gain not provided [RCV002472809] Chr7:158449486..158923491 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:156886376-159119707)x1 copy number loss not provided [RCV001249384] Chr7:156886376..159119707 [GRCh37]
Chr7:7q36.3		 not provided
GRCh37/hg19 7q36.3(chr7:155319280-159119707)x1 copy number loss not provided [RCV001259466] Chr7:155319280..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158116362-159119707)x4 copy number gain not provided [RCV001259467] Chr7:158116362..159119707 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158202236-158626229)x3 copy number gain not provided [RCV001259468] Chr7:158202236..158626229 [GRCh37]
Chr7:7q36.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1 copy number loss See cases [RCV001263034] Chr7:152800000..159138663 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic|uncertain significance
NM_017760.7(NCAPG2):c.1507A>G (p.Ile503Val) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV001332183] Chr7:158664723 [GRCh38]
Chr7:158457415 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.44T>C (p.Leu15Pro) single nucleotide variant not provided [RCV001356379]|not specified [RCV004034459] Chr7:158701856 [GRCh38]
Chr7:158494547 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.3300del (p.Lys1100_Val1101insTer) deletion not provided [RCV001358478] Chr7:158644369 [GRCh38]
Chr7:158437061 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2158G>A (p.Gly720Arg) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV002284986] Chr7:158656608 [GRCh38]
Chr7:158449300 [GRCh37]
Chr7:7q36.3		 pathogenic|uncertain significance
NM_017760.7(NCAPG2):c.1147-7C>T single nucleotide variant NCAPG2-related condition [RCV003910983]|not provided [RCV001730257]|not specified [RCV001730258] Chr7:158675663 [GRCh38]
Chr7:158468355 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.1480-16T>C single nucleotide variant Khan-Khan-Katsanis syndrome [RCV001779949] Chr7:158664766 [GRCh38]
Chr7:158457458 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.2934+10A>C single nucleotide variant Khan-Khan-Katsanis syndrome [RCV001779948] Chr7:158652283 [GRCh38]
Chr7:158444975 [GRCh37]
Chr7:7q36.3		 benign
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158397361-158630131)x1 copy number loss not provided [RCV001834324] Chr7:158397361..158630131 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158392721-159119707)x1 copy number loss not provided [RCV001833078] Chr7:158392721..159119707 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158311346-158945929) copy number gain not specified [RCV002053749] Chr7:158311346..158945929 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158353383-158706227)x3 copy number gain not provided [RCV001827781] Chr7:158353383..158706227 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1699A>G (p.Ile567Val) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV002227781] Chr7:158664531 [GRCh38]
Chr7:158457223 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1008del (p.Leu335_Trp336insTer) deletion Khan-Khan-Katsanis syndrome [RCV002227782] Chr7:158680733 [GRCh38]
Chr7:158473425 [GRCh37]
Chr7:7q36.3		 uncertain significance
NC_000007.13:g.(?_152617597)_(158500659_?)del deletion Holoprosencephaly 3 [RCV003122159]|not provided [RCV003122160] Chr7:152617597..158500659 [GRCh37]
Chr7:7q36.2-36.3		 pathogenic|no classifications from unflagged records
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_017760.7(NCAPG2):c.2815C>G (p.Gln939Glu) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV003148560] Chr7:158652412 [GRCh38]
Chr7:158445104 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_017760.7(NCAPG2):c.1021-2A>G single nucleotide variant Khan-Khan-Katsanis syndrome [RCV002281675] Chr7:158680087 [GRCh38]
Chr7:158472779 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.3172G>A (p.Val1058Met) single nucleotide variant not specified [RCV004303419] Chr7:158646467 [GRCh38]
Chr7:158439159 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.959G>A (p.Arg320Gln) single nucleotide variant not specified [RCV004318089] Chr7:158680782 [GRCh38]
Chr7:158473474 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2459G>A (p.Arg820Gln) single nucleotide variant not specified [RCV004326781] Chr7:158655385 [GRCh38]
Chr7:158448077 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158311347-158531086)x3 copy number gain not provided [RCV002475002] Chr7:158311347..158531086 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158385219-158727591)x3 copy number gain not provided [RCV002474703] Chr7:158385219..158727591 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158444634-158848036)x3 copy number gain not provided [RCV002473841] Chr7:158444634..158848036 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2584A>G (p.Ile862Val) single nucleotide variant not specified [RCV004220315] Chr7:158655180 [GRCh38]
Chr7:158447872 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.725T>C (p.Met242Thr) single nucleotide variant not specified [RCV004231030] Chr7:158687390 [GRCh38]
Chr7:158480082 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1265A>G (p.Lys422Arg) single nucleotide variant not specified [RCV004154145] Chr7:158675538 [GRCh38]
Chr7:158468230 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1162C>T (p.Pro388Ser) single nucleotide variant not specified [RCV004119973] Chr7:158675641 [GRCh38]
Chr7:158468333 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1442A>G (p.Asp481Gly) single nucleotide variant not specified [RCV004200549] Chr7:158671551 [GRCh38]
Chr7:158464243 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1802A>G (p.Lys601Arg) single nucleotide variant not specified [RCV004090183] Chr7:158664197 [GRCh38]
Chr7:158456889 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1948A>C (p.Lys650Gln) single nucleotide variant not specified [RCV004107197] Chr7:158662235 [GRCh38]
Chr7:158454927 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2248C>T (p.His750Tyr) single nucleotide variant not specified [RCV004155911] Chr7:158656400 [GRCh38]
Chr7:158449092 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1824C>G (p.Asp608Glu) single nucleotide variant not specified [RCV004220565] Chr7:158662359 [GRCh38]
Chr7:158455051 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2479C>T (p.Arg827Cys) single nucleotide variant not specified [RCV004119727] Chr7:158655365 [GRCh38]
Chr7:158448057 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.334G>A (p.Glu112Lys) single nucleotide variant not specified [RCV004071377] Chr7:158692890 [GRCh38]
Chr7:158485582 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.71A>G (p.Gln24Arg) single nucleotide variant not specified [RCV004108462] Chr7:158701829 [GRCh38]
Chr7:158494520 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.627G>A (p.Met209Ile) single nucleotide variant not specified [RCV004102212] Chr7:158689864 [GRCh38]
Chr7:158482556 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2360A>G (p.His787Arg) single nucleotide variant not specified [RCV004157330] Chr7:158656288 [GRCh38]
Chr7:158448980 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1612G>A (p.Glu538Lys) single nucleotide variant not specified [RCV004152676] Chr7:158664618 [GRCh38]
Chr7:158457310 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1309C>T (p.Arg437Cys) single nucleotide variant not specified [RCV004155266] Chr7:158675494 [GRCh38]
Chr7:158468186 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.372T>G (p.Ile124Met) single nucleotide variant not specified [RCV004104647] Chr7:158692852 [GRCh38]
Chr7:158485544 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2900G>A (p.Arg967Gln) single nucleotide variant not specified [RCV004080420] Chr7:158652327 [GRCh38]
Chr7:158445019 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.181G>A (p.Val61Met) single nucleotide variant not specified [RCV004096912] Chr7:158693395 [GRCh38]
Chr7:158486087 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.733G>A (p.Gly245Arg) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV003132854] Chr7:158687382 [GRCh38]
Chr7:158480074 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1088C>T (p.Pro363Leu) single nucleotide variant not specified [RCV003226824] Chr7:158680018 [GRCh38]
Chr7:158472710 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.718A>C (p.Ile240Leu) single nucleotide variant not specified [RCV004281047] Chr7:158687397 [GRCh38]
Chr7:158480089 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.79-4A>G single nucleotide variant NCAPG2-related condition [RCV003919040]|not specified [RCV003226823] Chr7:158693501 [GRCh38]
Chr7:158486193 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
NM_017760.7(NCAPG2):c.2089C>T (p.Arg697Trp) single nucleotide variant NCAPG2-related condition [RCV003919037]|not provided [RCV003223274] Chr7:158656677 [GRCh38]
Chr7:158449369 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.2480G>A (p.Arg827His) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV003132855] Chr7:158655364 [GRCh38]
Chr7:158448056 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1262A>G (p.Lys421Arg) single nucleotide variant not specified [RCV004278544] Chr7:158675541 [GRCh38]
Chr7:158468233 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.17C>T (p.Thr6Met) single nucleotide variant not specified [RCV004322747] Chr7:158701883 [GRCh38]
Chr7:158494574 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.250G>A (p.Glu84Lys) single nucleotide variant NCAPG2-related condition [RCV003954090]|not provided [RCV003327275] Chr7:158693326 [GRCh38]
Chr7:158486018 [GRCh37]
Chr7:7q36.3		 benign|likely benign
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1 copy number loss Holoprosencephaly 3 [RCV003327714] Chr7:154446117..159206757 [GRCh38]
Chr7:7q36.2-36.3		 pathogenic
NM_017760.7(NCAPG2):c.182T>C (p.Val61Ala) single nucleotide variant NCAPG2-related condition [RCV003919217]|not provided [RCV003423868] Chr7:158693394 [GRCh38]
Chr7:158486086 [GRCh37]
Chr7:7q36.3		 benign|likely benign
NM_017760.7(NCAPG2):c.1686C>T (p.Thr562=) single nucleotide variant not provided [RCV003334299] Chr7:158664544 [GRCh38]
Chr7:158457236 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.724A>G (p.Met242Val) single nucleotide variant not specified [RCV004356835] Chr7:158687391 [GRCh38]
Chr7:158480083 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.413G>A (p.Arg138Gln) single nucleotide variant not specified [RCV004337573] Chr7:158690692 [GRCh38]
Chr7:158483384 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1808A>G (p.Asn603Ser) single nucleotide variant not specified [RCV004343209] Chr7:158664191 [GRCh38]
Chr7:158456883 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158304929-159073358)x3 copy number gain not provided [RCV003484707] Chr7:158304929..159073358 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q36.3(chr7:158416815-158727591)x3 copy number gain not provided [RCV003484709] Chr7:158416815..158727591 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.3(chr7:158393514-159041880)x3 copy number gain not provided [RCV003484708] Chr7:158393514..159041880 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_017760.7(NCAPG2):c.1004T>G (p.Leu335Arg) single nucleotide variant not specified [RCV003479603] Chr7:158680737 [GRCh38]
Chr7:158473429 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2723G>A (p.Arg908Gln) single nucleotide variant not specified [RCV003479602] Chr7:158654618 [GRCh38]
Chr7:158447310 [GRCh37]
Chr7:7q36.3		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_017760.7(NCAPG2):c.3006T>G (p.Pro1002=) single nucleotide variant not provided [RCV003435373] Chr7:158650901 [GRCh38]
Chr7:158443593 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.2621G>C (p.Arg874Thr) single nucleotide variant Khan-Khan-Katsanis syndrome [RCV003493096] Chr7:158655143 [GRCh38]
Chr7:158447835 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.3168G>A (p.Ser1056=) single nucleotide variant NCAPG2-related condition [RCV003909214]|not provided [RCV003885803] Chr7:158646471 [GRCh38]
Chr7:158439163 [GRCh37]
Chr7:7q36.3		 likely benign
GRCh37/hg19 7q36.3(chr7:155607058-159119707)x1 copy number loss not specified [RCV003986686] Chr7:155607058..159119707 [GRCh37]
Chr7:7q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_017760.7(NCAPG2):c.2114G>A (p.Ser705Asn) single nucleotide variant NCAPG2-related condition [RCV003973872] Chr7:158656652 [GRCh38]
Chr7:158449344 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.2989C>T (p.Arg997Trp) single nucleotide variant not provided [RCV003992918] Chr7:158650918 [GRCh38]
Chr7:158443610 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.3380+2723_3380+2729del deletion NCAPG2-related condition [RCV003917371] Chr7:158641560..158641566 [GRCh38]
Chr7:158434252..158434258 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.795T>G (p.Ile265Met) single nucleotide variant NCAPG2-related condition [RCV003902139] Chr7:158686214 [GRCh38]
Chr7:158478906 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.2389-7A>G single nucleotide variant NCAPG2-related condition [RCV003959147] Chr7:158655462 [GRCh38]
Chr7:158448154 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.732C>T (p.His244=) single nucleotide variant NCAPG2-related condition [RCV003944535] Chr7:158687383 [GRCh38]
Chr7:158480075 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.925-8G>T single nucleotide variant NCAPG2-related condition [RCV003919626] Chr7:158680824 [GRCh38]
Chr7:158473516 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.2257C>T (p.Arg753Cys) single nucleotide variant NCAPG2-related condition [RCV003929865] Chr7:158656391 [GRCh38]
Chr7:158449083 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.307A>G (p.Ile103Val) single nucleotide variant NCAPG2-related condition [RCV003966844] Chr7:158692917 [GRCh38]
Chr7:158485609 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.2601A>C (p.Glu867Asp) single nucleotide variant NCAPG2-related condition [RCV003917232] Chr7:158655163 [GRCh38]
Chr7:158447855 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.1390C>T (p.Leu464Phe) single nucleotide variant NCAPG2-related condition [RCV003972172] Chr7:158671603 [GRCh38]
Chr7:158464295 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.838-10G>A single nucleotide variant NCAPG2-related condition [RCV003944583] Chr7:158683396 [GRCh38]
Chr7:158476088 [GRCh37]
Chr7:7q36.3		 benign
NM_017760.7(NCAPG2):c.545A>G (p.Asp182Gly) single nucleotide variant NCAPG2-related condition [RCV003916902]|not specified [RCV004369781] Chr7:158689946 [GRCh38]
Chr7:158482638 [GRCh37]
Chr7:7q36.3		 likely benign|uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_017760.7(NCAPG2):c.1239G>A (p.Pro413=) single nucleotide variant NCAPG2-related condition [RCV003969322] Chr7:158675564 [GRCh38]
Chr7:158468256 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.2101G>A (p.Ala701Thr) single nucleotide variant not specified [RCV004468323] Chr7:158656665 [GRCh38]
Chr7:158449357 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2344C>T (p.Arg782Trp) single nucleotide variant not specified [RCV004468325] Chr7:158656304 [GRCh38]
Chr7:158448996 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.3016G>C (p.Gly1006Arg) single nucleotide variant not specified [RCV004468341] Chr7:158650891 [GRCh38]
Chr7:158443583 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1658G>C (p.Arg553Thr) single nucleotide variant not specified [RCV004468280] Chr7:158664572 [GRCh38]
Chr7:158457264 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2696A>G (p.His899Arg) single nucleotide variant not specified [RCV004468335] Chr7:158654645 [GRCh38]
Chr7:158447337 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.165G>T (p.Lys55Asn) single nucleotide variant not specified [RCV004468284] Chr7:158693411 [GRCh38]
Chr7:158486103 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1842C>A (p.Asn614Lys) single nucleotide variant not specified [RCV004468304] Chr7:158662341 [GRCh38]
Chr7:158455033 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1687G>A (p.Ala563Thr) single nucleotide variant not specified [RCV004468290] Chr7:158664543 [GRCh38]
Chr7:158457235 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.2014T>A (p.Phe672Ile) single nucleotide variant not specified [RCV004468318] Chr7:158658384 [GRCh38]
Chr7:158451076 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.3022C>G (p.Leu1008Val) single nucleotide variant not specified [RCV004468343] Chr7:158650885 [GRCh38]
Chr7:158443577 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.448A>G (p.Thr150Ala) single nucleotide variant not specified [RCV004470844] Chr7:158690657 [GRCh38]
Chr7:158483349 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1292C>T (p.Thr431Met) single nucleotide variant not specified [RCV004468260] Chr7:158675511 [GRCh38]
Chr7:158468203 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1250T>C (p.Ile417Thr) single nucleotide variant not specified [RCV004468246] Chr7:158675553 [GRCh38]
Chr7:158468245 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.1547G>A (p.Arg516Gln) single nucleotide variant not specified [RCV004468275] Chr7:158664683 [GRCh38]
Chr7:158457375 [GRCh37]
Chr7:7q36.3		 uncertain significance
NM_017760.7(NCAPG2):c.692G>C (p.Cys231Ser) single nucleotide variant not specified [RCV004470858] Chr7:158687423 [GRCh38]
Chr7:158480115 [GRCh37]
Chr7:7q36.3		 likely benign
NM_017760.7(NCAPG2):c.3389A>G (p.Tyr1130Cys) single nucleotide variant not specified [RCV004358216] Chr7:158631709 [GRCh38]
Chr7:158424401 [GRCh37]
Chr7:7q36.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3156
Count of miRNA genes:1146
Interacting mature miRNAs:1392
Transcripts:ENST00000275830, ENST00000356309, ENST00000409339, ENST00000409423, ENST00000432615, ENST00000441982, ENST00000449727, ENST00000467785, ENST00000472591, ENST00000474940, ENST00000475918, ENST00000479022, ENST00000491792, ENST00000541468
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 211 21 67 53 688 56 304 57 140 81 597 301 10 10 4
Low 2226 2685 1625 541 1108 379 4051 2017 3523 332 863 1311 165 1 1204 2776 2 2
Below cutoff 2 285 34 30 155 30 2 123 71 6 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC019084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA422216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB069860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW419642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356309   ⟹   ENSP00000348657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,631,169 - 158,704,804 (-)Ensembl
RefSeq Acc Id: ENST00000409339   ⟹   ENSP00000387007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,639,796 - 158,704,798 (-)Ensembl
RefSeq Acc Id: ENST00000409423   ⟹   ENSP00000386569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,631,314 - 158,704,804 (-)Ensembl
RefSeq Acc Id: ENST00000432615   ⟹   ENSP00000414337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,631,311 - 158,703,704 (-)Ensembl
RefSeq Acc Id: ENST00000441982   ⟹   ENSP00000408080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,631,436 - 158,689,895 (-)Ensembl
RefSeq Acc Id: ENST00000467785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,631,666 - 158,693,339 (-)Ensembl
RefSeq Acc Id: ENST00000472591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,662,240 - 158,668,195 (-)Ensembl
RefSeq Acc Id: ENST00000474940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,656,602 - 158,665,386 (-)Ensembl
RefSeq Acc Id: ENST00000475918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,658,338 - 158,665,232 (-)Ensembl
RefSeq Acc Id: ENST00000491792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,662,226 - 158,667,238 (-)Ensembl
RefSeq Acc Id: ENST00000621338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7158,693,412 - 158,696,651 (-)Ensembl
RefSeq Acc Id: NM_001281932   ⟹   NP_001268861
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
HuRef7152,163,081 - 152,236,544 (-)NCBI
CHM1_17158,432,684 - 158,505,901 (-)NCBI
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001281933   ⟹   NP_001268862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,639,797 - 158,704,804 (-)NCBI
HuRef7152,163,081 - 152,236,544 (-)NCBI
CHM1_17158,441,312 - 158,505,901 (-)NCBI
T2T-CHM13v2.07159,867,094 - 159,932,192 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017760   ⟹   NP_060230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
GRCh377158,424,002 - 158,497,520 (-)NCBI
Build 367158,116,764 - 158,190,281 (-)NCBI Archive
Celera7152,856,604 - 152,930,122 (-)RGD
HuRef7152,163,081 - 152,236,544 (-)NCBI
CHM1_17158,432,684 - 158,505,901 (-)NCBI
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
CRA_TCAGchr7v27157,628,658 - 157,701,735 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_104054
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
HuRef7152,163,081 - 152,236,544 (-)NCBI
CHM1_17158,432,684 - 158,505,901 (-)NCBI
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249547   ⟹   XP_005249604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
GRCh377158,424,002 - 158,497,520 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516357   ⟹   XP_011514659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,641,431 - 158,704,804 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516358   ⟹   XP_011514660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,646,487 - 158,704,804 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516362   ⟹   XP_011514664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,667,273 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012376   ⟹   XP_016867865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420538   ⟹   XP_047276494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,641,431 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420539   ⟹   XP_047276495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420540   ⟹   XP_047276496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,641,431 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420541   ⟹   XP_047276497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,641,431 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420542   ⟹   XP_047276498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,641,431 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420543   ⟹   XP_047276499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,641,431 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420544   ⟹   XP_047276500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420545   ⟹   XP_047276501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420546   ⟹   XP_047276502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420547   ⟹   XP_047276503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_047420548   ⟹   XP_047276504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,631,169 - 158,704,804 (-)NCBI
RefSeq Acc Id: XM_054358518   ⟹   XP_054214493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,868,728 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358519   ⟹   XP_054214494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,868,728 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358520   ⟹   XP_054214495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358521   ⟹   XP_054214496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,868,728 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358522   ⟹   XP_054214497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,868,728 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358523   ⟹   XP_054214498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,868,728 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358524   ⟹   XP_054214499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,868,728 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358525   ⟹   XP_054214500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358526   ⟹   XP_054214501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358527   ⟹   XP_054214502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358528   ⟹   XP_054214503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358529   ⟹   XP_054214504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358530   ⟹   XP_054214505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358531   ⟹   XP_054214506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358532   ⟹   XP_054214507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,873,784 - 159,932,192 (-)NCBI
RefSeq Acc Id: XM_054358533   ⟹   XP_054214508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07159,858,401 - 159,894,570 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001268861 (Get FASTA)   NCBI Sequence Viewer  
  NP_001268862 (Get FASTA)   NCBI Sequence Viewer  
  NP_060230 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249604 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514659 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514660 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514664 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867865 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276494 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276495 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276496 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276497 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276498 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276499 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276500 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276501 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276502 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276504 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214493 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214494 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214495 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214496 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214497 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214498 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214499 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214500 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214501 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214502 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214503 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214504 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214505 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214506 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214507 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214508 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH05878 (Get FASTA)   NCBI Sequence Viewer  
  AAH20560 (Get FASTA)   NCBI Sequence Viewer  
  AAH43404 (Get FASTA)   NCBI Sequence Viewer  
  AAS07494 (Get FASTA)   NCBI Sequence Viewer  
  BAA91081 (Get FASTA)   NCBI Sequence Viewer  
  BAB14219 (Get FASTA)   NCBI Sequence Viewer  
  BAB14534 (Get FASTA)   NCBI Sequence Viewer  
  BAG52464 (Get FASTA)   NCBI Sequence Viewer  
  BAG58106 (Get FASTA)   NCBI Sequence Viewer  
  BAG63329 (Get FASTA)   NCBI Sequence Viewer  
  CAD97854 (Get FASTA)   NCBI Sequence Viewer  
  EAL23929 (Get FASTA)   NCBI Sequence Viewer  
  EAX04585 (Get FASTA)   NCBI Sequence Viewer  
  EAX04586 (Get FASTA)   NCBI Sequence Viewer  
  EAX04587 (Get FASTA)   NCBI Sequence Viewer  
  EAX04588 (Get FASTA)   NCBI Sequence Viewer  
  EAX04589 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000348657
  ENSP00000348657.3
  ENSP00000386569
  ENSP00000386569.1
  ENSP00000387007
  ENSP00000387007.3
  ENSP00000408080
  ENSP00000408080.1
  ENSP00000414337.1
GenBank Protein Q86XI2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060230   ⟸   NM_017760
- Peptide Label: isoform a
- UniProtKB: Q9H8S2 (UniProtKB/Swiss-Prot),   Q9BRX6 (UniProtKB/Swiss-Prot),   Q8WUG8 (UniProtKB/Swiss-Prot),   Q7Z3J9 (UniProtKB/Swiss-Prot),   A4D228 (UniProtKB/Swiss-Prot),   Q9H9K6 (UniProtKB/Swiss-Prot),   Q86XI2 (UniProtKB/Swiss-Prot),   B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249604   ⟸   XM_005249547
- Peptide Label: isoform X5
- UniProtKB: B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268861   ⟸   NM_001281932
- Peptide Label: isoform a
- UniProtKB: Q9H8S2 (UniProtKB/Swiss-Prot),   Q9BRX6 (UniProtKB/Swiss-Prot),   Q8WUG8 (UniProtKB/Swiss-Prot),   Q7Z3J9 (UniProtKB/Swiss-Prot),   A4D228 (UniProtKB/Swiss-Prot),   Q9H9K6 (UniProtKB/Swiss-Prot),   Q86XI2 (UniProtKB/Swiss-Prot),   B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268862   ⟸   NM_001281933
- Peptide Label: isoform b
- UniProtKB: B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514659   ⟸   XM_011516357
- Peptide Label: isoform X1
- UniProtKB: B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514664   ⟸   XM_011516362
- Peptide Label: isoform X9
- UniProtKB: B4DXB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514660   ⟸   XM_011516358
- Peptide Label: isoform X8
- UniProtKB: B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867865   ⟸   XM_017012376
- Peptide Label: isoform X6
- UniProtKB: B3KRQ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000408080   ⟸   ENST00000441982
RefSeq Acc Id: ENSP00000414337   ⟸   ENST00000432615
RefSeq Acc Id: ENSP00000387007   ⟸   ENST00000409339
RefSeq Acc Id: ENSP00000386569   ⟸   ENST00000409423
RefSeq Acc Id: ENSP00000348657   ⟸   ENST00000356309
RefSeq Acc Id: XP_047276503   ⟸   XM_047420547
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047276504   ⟸   XM_047420548
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047276502   ⟸   XM_047420546
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047276500   ⟸   XM_047420544
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047276501   ⟸   XM_047420545
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047276495   ⟸   XM_047420539
- Peptide Label: isoform X2
- UniProtKB: Q9H8S2 (UniProtKB/Swiss-Prot),   Q9BRX6 (UniProtKB/Swiss-Prot),   Q8WUG8 (UniProtKB/Swiss-Prot),   Q86XI2 (UniProtKB/Swiss-Prot),   Q7Z3J9 (UniProtKB/Swiss-Prot),   A4D228 (UniProtKB/Swiss-Prot),   Q9H9K6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047276498   ⟸   XM_047420542
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047276496   ⟸   XM_047420540
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047276499   ⟸   XM_047420543
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047276497   ⟸   XM_047420541
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047276494   ⟸   XM_047420538
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214505   ⟸   XM_054358530
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054214503   ⟸   XM_054358528
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054214500   ⟸   XM_054358525
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054214506   ⟸   XM_054358531
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054214504   ⟸   XM_054358529
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054214501   ⟸   XM_054358526
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054214502   ⟸   XM_054358527
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054214495   ⟸   XM_054358520
- Peptide Label: isoform X2
- UniProtKB: Q9H8S2 (UniProtKB/Swiss-Prot),   Q9BRX6 (UniProtKB/Swiss-Prot),   Q8WUG8 (UniProtKB/Swiss-Prot),   Q86XI2 (UniProtKB/Swiss-Prot),   Q7Z3J9 (UniProtKB/Swiss-Prot),   A4D228 (UniProtKB/Swiss-Prot),   Q9H9K6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054214508   ⟸   XM_054358533
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054214498   ⟸   XM_054358523
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054214496   ⟸   XM_054358521
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054214499   ⟸   XM_054358524
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054214497   ⟸   XM_054358522
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054214493   ⟸   XM_054358518
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214494   ⟸   XM_054358519
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214507   ⟸   XM_054358532
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86XI2-F1-model_v2 AlphaFold Q86XI2 1-1143 view protein structure

Promoters
RGD ID:6805950
Promoter ID:HG_KWN:60486
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000327118,   OTTHUMT00000327119
Position:
Human AssemblyChrPosition (strand)Source
Build 367158,151,056 - 158,151,707 (-)MPROMDB
RGD ID:6805949
Promoter ID:HG_KWN:60490
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000327115
Position:
Human AssemblyChrPosition (strand)Source
Build 367158,181,399 - 158,181,899 (-)MPROMDB
RGD ID:6805948
Promoter ID:HG_KWN:60491
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000327112
Position:
Human AssemblyChrPosition (strand)Source
Build 367158,189,121 - 158,189,621 (-)MPROMDB
RGD ID:6805551
Promoter ID:HG_KWN:60492
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000275830,   ENST00000409339,   NM_017760,   UC003WNW.1,   UC003WNX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367158,190,131 - 158,190,631 (-)MPROMDB
RGD ID:7212457
Promoter ID:EPDNEW_H11975
Type:initiation region
Name:NCAPG2_3
Description:non-SMC condensin II complex subunit G2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11976  EPDNEW_H11977  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,693,345 - 158,693,405EPDNEW
RGD ID:7212459
Promoter ID:EPDNEW_H11976
Type:initiation region
Name:NCAPG2_1
Description:non-SMC condensin II complex subunit G2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11975  EPDNEW_H11977  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,704,803 - 158,704,863EPDNEW
RGD ID:7212463
Promoter ID:EPDNEW_H11977
Type:initiation region
Name:NCAPG2_2
Description:non-SMC condensin II complex subunit G2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11975  EPDNEW_H11976  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387158,707,794 - 158,707,854EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21904 AgrOrtholog
COSMIC NCAPG2 COSMIC
Ensembl Genes ENSG00000146918 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356309 ENTREZGENE
  ENST00000356309.8 UniProtKB/Swiss-Prot
  ENST00000409339 ENTREZGENE
  ENST00000409339.3 UniProtKB/Swiss-Prot
  ENST00000409423 ENTREZGENE
  ENST00000409423.5 UniProtKB/Swiss-Prot
  ENST00000432615 ENTREZGENE
  ENST00000432615.5 UniProtKB/TrEMBL
  ENST00000441982 ENTREZGENE
  ENST00000441982.5 UniProtKB/TrEMBL
  ENST00000467785 ENTREZGENE
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000146918 GTEx
HGNC ID HGNC:21904 ENTREZGENE
Human Proteome Map NCAPG2 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Condensin2_G2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54892 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54892 ENTREZGENE
OMIM 608532 OMIM
PANTHER CONDENSIN-2 COMPLEX SUBUNIT G2 UniProtKB/Swiss-Prot
  CONDENSIN-2 COMPLEX SUBUNIT G2 UniProtKB/Swiss-Prot
  CONDENSIN-2 COMPLEX SUBUNIT G2 UniProtKB/TrEMBL
  CONDENSIN-2 COMPLEX SUBUNIT G2 UniProtKB/TrEMBL
Pfam Condensin2nSMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162397212 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D228 ENTREZGENE
  B3KRQ2 ENTREZGENE, UniProtKB/TrEMBL
  B4DXB7 ENTREZGENE, UniProtKB/TrEMBL
  CNDG2_HUMAN UniProtKB/Swiss-Prot
  F8WE06_HUMAN UniProtKB/TrEMBL
  H0Y6U5_HUMAN UniProtKB/TrEMBL
  Q7Z3J9 ENTREZGENE
  Q86XI2 ENTREZGENE
  Q8WUG8 ENTREZGENE
  Q9BRX6 ENTREZGENE
  Q9H8S2 ENTREZGENE
  Q9H9K6 ENTREZGENE
UniProt Secondary A4D228 UniProtKB/Swiss-Prot
  Q7Z3J9 UniProtKB/Swiss-Prot
  Q8WUG8 UniProtKB/Swiss-Prot
  Q9BRX6 UniProtKB/Swiss-Prot
  Q9H8S2 UniProtKB/Swiss-Prot
  Q9H9K6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 NCAPG2  non-SMC condensin II complex subunit G2  NCAPG2  non-SMC condensin II complex, subunit G2  Symbol and/or name change 5135510 APPROVED