TRPM2 (transient receptor potential cation channel subfamily M member 2) - Rat Genome Database

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Gene: TRPM2 (transient receptor potential cation channel subfamily M member 2) Homo sapiens
Analyze
Symbol: TRPM2
Name: transient receptor potential cation channel subfamily M member 2
RGD ID: 1323582
HGNC Page HGNC:12339
Description: Enables calcium ion binding activity; calcium-release channel activity; and mono-ADP-D-ribose binding activity. Involved in several processes, including cellular response to hydrogen peroxide; monoatomic cation transmembrane transport; and protein homotetramerization. Located in lysosome and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EREG1; estrogen-responsive element-associated gene 1 protein; KNP3; long transient receptor potential channel 2; LTrpC-2; LTRPC2; MGC133383; NUDT9H; NUDT9L1; transient receptor potential cation channel, subfamily M, member 2; transient receptor potential channel 7; transient receptor potential melastatin 2; TRPC7
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
GRCh382144,353,621 - 44,442,644 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,350,163 - 44,443,081 (+)EnsemblGRCh38hg38GRCh38
GRCh372145,773,504 - 45,862,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,597,912 - 44,687,392 (+)NCBINCBI36Build 36hg18NCBI36
Build 342144,597,998 - 44,687,118NCBI
Celera2130,878,659 - 30,971,052 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,143,769 - 31,237,293 (+)NCBIHuRef
CHM1_12145,334,322 - 45,423,804 (+)NCBICHM1_1
T2T-CHM13v2.02142,704,215 - 42,803,115 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
ADP-D-ribose  (EXP,ISO)
aldehydo-D-glucose  (ISO)
allethrin  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
bleomycin A2  (ISO)
cadmium dichloride  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clotrimazole  (EXP,ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
econazole  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
fenvalerate  (ISO)
flufenamic acid  (ISO)
fructose  (ISO)
genistein  (ISO)
glucose  (ISO)
glutathione  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP,ISO)
iron dichloride  (EXP)
lead nitrate  (EXP)
lithium atom  (EXP)
lithium hydride  (EXP)
mercury dichloride  (EXP)
miconazole  (EXP)
monensin A  (EXP)
N-(p-amylcinnamoyl)anthranilic acid  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
orphenadrine  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
pinostrobin  (EXP)
pirinixic acid  (ISO)
pyrethrins  (ISO)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sodium arsenite  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Transient receptor potential melastatin 2 expression is increased following experimental traumatic brain injury in rats. Cook NL, etal., J Mol Neurosci. 2010 Oct;42(2):192-9. doi: 10.1007/s12031-010-9347-8. Epub 2010 Mar 23.
2. TRPM2 is elevated in the tMCAO stroke model, transcriptionally regulated, and functionally expressed in C13 microglia. Fonfria E, etal., J Recept Signal Transduct Res. 2006;26(3):179-98.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. TRPM2 channels mediate acetaminophen-induced liver damage. Kheradpezhouh E, etal., Proc Natl Acad Sci U S A. 2014 Feb 25;111(8):3176-81. doi: 10.1073/pnas.1322657111. Epub 2014 Feb 3.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9179495   PMID:9806837   PMID:10830953   PMID:11290752   PMID:11385575   PMID:11509734   PMID:11804595   PMID:11960981   PMID:12032305   PMID:12377790   PMID:12477932   PMID:12529379  
PMID:12564954   PMID:12594222   PMID:15561722   PMID:15708008   PMID:15808509   PMID:16075382   PMID:16252251   PMID:16260005   PMID:16306129   PMID:16316998   PMID:16382100   PMID:16461353  
PMID:16565078   PMID:16585058   PMID:16601673   PMID:16719842   PMID:16733555   PMID:16822940   PMID:17060318   PMID:17217061   PMID:17251321   PMID:17525977   PMID:17604279   PMID:17940282  
PMID:18048770   PMID:18572241   PMID:18599483   PMID:18687688   PMID:18957938   PMID:19004782   PMID:19133961   PMID:19171771   PMID:19382906   PMID:19454650   PMID:19652898   PMID:19749482  
PMID:19887679   PMID:20029400   PMID:20107186   PMID:20194125   PMID:20237295   PMID:20515676   PMID:20587417   PMID:20650899   PMID:20660597   PMID:20799912   PMID:21193737   PMID:21505784  
PMID:21602277   PMID:21873635   PMID:22226147   PMID:22493272   PMID:22547068   PMID:22750002   PMID:22931549   PMID:23142700   PMID:23185472   PMID:23277130   PMID:23302782   PMID:23443543  
PMID:23458684   PMID:23629676   PMID:23910495   PMID:23957292   PMID:24004350   PMID:24337049   PMID:24931166   PMID:25084624   PMID:25391657   PMID:25576627   PMID:25620041   PMID:25675998  
PMID:25760245   PMID:25760728   PMID:26178079   PMID:26311765   PMID:26420388   PMID:26558786   PMID:26656285   PMID:26839633   PMID:27068538   PMID:27245989   PMID:27322457   PMID:27333281  
PMID:27383051   PMID:27569419   PMID:27623379   PMID:27632706   PMID:27694440   PMID:27957685   PMID:28007458   PMID:28008929   PMID:28292196   PMID:28330616   PMID:28611215   PMID:28753206  
PMID:28775320   PMID:29081064   PMID:29343514   PMID:29620272   PMID:29745897   PMID:30020827   PMID:30138713   PMID:30467180   PMID:30584900   PMID:30796690   PMID:30862883   PMID:30888515  
PMID:30997980   PMID:31513012   PMID:31575956   PMID:31610913   PMID:31735084   PMID:31844070   PMID:32019426   PMID:32058297   PMID:32083315   PMID:32227254   PMID:33211286   PMID:33309544  
PMID:33389617   PMID:33621194   PMID:33689144   PMID:33866462   PMID:33924946   PMID:33931144   PMID:34054821   PMID:34099637   PMID:34108651   PMID:34299254   PMID:34431156   PMID:34445066  
PMID:34605693   PMID:34788616   PMID:34903714   PMID:35095852   PMID:35159300   PMID:35234266   PMID:35428820   PMID:35633088   PMID:35660323   PMID:36244648   PMID:36446940   PMID:36619219  
PMID:37337283   PMID:37541115   PMID:37739206   PMID:37762313   PMID:37906101   PMID:38242853  


Genomics

Comparative Map Data
TRPM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,353,621 - 44,442,644 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,350,163 - 44,443,081 (+)EnsemblGRCh38hg38GRCh38
GRCh372145,773,504 - 45,862,527 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,597,912 - 44,687,392 (+)NCBINCBI36Build 36hg18NCBI36
Build 342144,597,998 - 44,687,118NCBI
Celera2130,878,659 - 30,971,052 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,143,769 - 31,237,293 (+)NCBIHuRef
CHM1_12145,334,322 - 45,423,804 (+)NCBICHM1_1
T2T-CHM13v2.02142,704,215 - 42,803,115 (+)NCBIT2T-CHM13v2.0
Trpm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391077,743,556 - 77,805,746 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1077,743,556 - 77,806,397 (-)EnsemblGRCm39 Ensembl
GRCm381077,907,722 - 77,969,909 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1077,907,722 - 77,970,563 (-)EnsemblGRCm38mm10GRCm38
MGSCv371077,370,467 - 77,432,617 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361077,312,294 - 77,370,586 (-)NCBIMGSCv36mm8
Celera1078,953,541 - 79,008,872 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Trpm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82010,703,190 - 10,752,795 (+)NCBIGRCr8
mRatBN7.22010,703,568 - 10,753,189 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2010,707,014 - 10,753,181 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2011,406,577 - 11,451,886 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02010,767,533 - 10,812,846 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02011,239,281 - 11,284,590 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02011,434,062 - 11,482,880 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2011,436,267 - 11,482,051 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02013,604,119 - 13,652,782 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42011,053,301 - 11,099,740 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12011,053,527 - 11,099,966 (+)NCBI
Celera2012,212,844 - 12,258,113 (+)NCBICelera
Cytogenetic Map20p12NCBI
Trpm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540741,057,941 - 41,110,668 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540741,062,217 - 41,110,500 (-)NCBIChiLan1.0ChiLan1.0
TRPM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22240,357,169 - 40,490,267 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12135,207,140 - 35,361,705 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02130,606,825 - 30,737,313 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12143,903,811 - 44,034,712 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2143,903,811 - 44,035,298 (+)Ensemblpanpan1.1panPan2
TRPM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13138,201,075 - 38,224,076 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3137,360,169 - 37,408,622 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03137,748,649 - 37,796,450 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3137,748,507 - 37,796,506 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13137,619,618 - 37,667,467 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03137,598,140 - 37,645,957 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03138,095,431 - 38,143,324 (+)NCBIUU_Cfam_GSD_1.0
Trpm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497137,390,730 - 37,445,869 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650021,942 - 77,260 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650021,960 - 76,895 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13207,212,457 - 207,262,064 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113207,212,339 - 207,263,313 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213217,096,227 - 217,138,676 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1288,082,391 - 88,170,340 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl288,087,448 - 88,170,344 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605416,206,670 - 16,292,923 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474529,757,106 - 29,806,795 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474529,757,267 - 29,809,607 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPM2
170 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_003307.3(TRPM2):c.255G>A (p.Gly85=) single nucleotide variant Malignant melanoma [RCV000072866] Chr21:44364114 [GRCh38]
Chr21:45783997 [GRCh37]
Chr21:44608425 [NCBI36]
Chr21:21q22.3		 not provided
NM_003307.3(TRPM2):c.1258C>T (p.Arg420Trp) single nucleotide variant Malignant melanoma [RCV000072867] Chr21:44382760 [GRCh38]
Chr21:45802643 [GRCh37]
Chr21:44627071 [NCBI36]
Chr21:21q22.3		 not provided
NM_003307.3(TRPM2):c.1560C>T (p.Leu520=) single nucleotide variant Malignant melanoma [RCV000072868] Chr21:44391391 [GRCh38]
Chr21:45811274 [GRCh37]
Chr21:44635702 [NCBI36]
Chr21:21q22.3		 not provided
NM_003307.3(TRPM2):c.2160C>T (p.Leu720=) single nucleotide variant Malignant melanoma [RCV000072869] Chr21:44399393 [GRCh38]
Chr21:45819276 [GRCh37]
Chr21:44643704 [NCBI36]
Chr21:21q22.3		 not provided
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 copy number loss See cases [RCV000240216] Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_003307.4(TRPM2):c.4060C>T (p.Arg1354Trp) single nucleotide variant Inborn genetic diseases [RCV003310936] Chr21:44435216 [GRCh38]
Chr21:45855099 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_003307.4(TRPM2):c.3407G>A (p.Arg1136Gln) single nucleotide variant not provided [RCV000732534] Chr21:44418501 [GRCh38]
Chr21:45838384 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233)x1 copy number loss See cases [RCV000447458] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44891717-46043454)x1 copy number loss See cases [RCV000448917] Chr21:44891717..46043454 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2015C>T (p.Ser672Leu) single nucleotide variant Inborn genetic diseases [RCV003247727] Chr21:44397829 [GRCh38]
Chr21:45817712 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.2978C>T (p.Pro993Leu) single nucleotide variant Inborn genetic diseases [RCV003245777]|not provided [RCV003434739] Chr21:44413906 [GRCh38]
Chr21:45833789 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_45629566)_(46330717_?)dup duplication Polyglandular autoimmune syndrome, type 1 [RCV000633454] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45752176-45854807)x1 copy number loss not provided [RCV000741631] Chr21:45752176..45854807 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45789324-45816830)x3 copy number gain not provided [RCV000741632] Chr21:45789324..45816830 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45821582-47383056)x1 copy number loss not provided [RCV000741633] Chr21:45821582..47383056 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_003307.4(TRPM2):c.439C>T (p.Gln147Ter) single nucleotide variant not provided [RCV001531969] Chr21:44366769 [GRCh38]
Chr21:45786652 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3975-207G>A single nucleotide variant not provided [RCV001690315] Chr21:44434924 [GRCh38]
Chr21:45854807 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4245A>G (p.Glu1415=) single nucleotide variant not provided [RCV000967575] Chr21:44439144 [GRCh38]
Chr21:45859027 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3746A>G (p.Asn1249Ser) single nucleotide variant not provided [RCV000903472] Chr21:44425778 [GRCh38]
Chr21:45845661 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_003307.4(TRPM2):c.3777C>T (p.Asn1259=) single nucleotide variant not provided [RCV000958786] Chr21:44425809 [GRCh38]
Chr21:45845692 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.457G>A (p.Val153Met) single nucleotide variant not provided [RCV000892423] Chr21:44366787 [GRCh38]
Chr21:45786670 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.2790+10C>A single nucleotide variant not provided [RCV000959646] Chr21:44406047 [GRCh38]
Chr21:45825930 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.3797C>T (p.Thr1266Met) single nucleotide variant not provided [RCV000899540] Chr21:44426661 [GRCh38]
Chr21:45846544 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_003307.4(TRPM2):c.2619C>T (p.Val873=) single nucleotide variant not provided [RCV000959645] Chr21:44405222 [GRCh38]
Chr21:45825105 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4104A>G (p.Ile1368Met) single nucleotide variant not provided [RCV000879505] Chr21:44437104 [GRCh38]
Chr21:45856987 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1031C>T (p.Thr344Ile) single nucleotide variant not provided [RCV000883574] Chr21:44379013 [GRCh38]
Chr21:45798896 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.4040C>T (p.Thr1347Met) single nucleotide variant not provided [RCV000906550] Chr21:44435196 [GRCh38]
Chr21:45855079 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3549+8C>T single nucleotide variant not provided [RCV000900282] Chr21:44423740 [GRCh38]
Chr21:45843623 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_45725202)_(46131429_?)dup duplication not provided [RCV001033805] Chr21:45725202..46131429 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4364T>G (p.Val1455Gly) single nucleotide variant not provided [RCV000884913] Chr21:44440883 [GRCh38]
Chr21:45860766 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1782C>T (p.His594=) single nucleotide variant not provided [RCV000960087] Chr21:44391613 [GRCh38]
Chr21:45811496 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1749C>T (p.Asn583=) single nucleotide variant not provided [RCV000959305] Chr21:44391580 [GRCh38]
Chr21:45811463 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.3796-6C>T single nucleotide variant not provided [RCV000893775] Chr21:44426654 [GRCh38]
Chr21:45846537 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.348G>A (p.Lys116=) single nucleotide variant not provided [RCV000967573] Chr21:44364207 [GRCh38]
Chr21:45784090 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.399G>A (p.Thr133=) single nucleotide variant not provided [RCV000967574] Chr21:44364258 [GRCh38]
Chr21:45784141 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2556C>T (p.Asp852=) single nucleotide variant not provided [RCV000901038] Chr21:44405159 [GRCh38]
Chr21:45825042 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1805T>C (p.Val602Ala) single nucleotide variant not provided [RCV000959644] Chr21:44395424 [GRCh38]
Chr21:45815307 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_003307.4(TRPM2):c.2958C>T (p.Ile986=) single nucleotide variant not provided [RCV000961093] Chr21:44406761 [GRCh38]
Chr21:45826644 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4235C>T (p.Pro1412Leu) single nucleotide variant not provided [RCV000899939] Chr21:44439134 [GRCh38]
Chr21:45859017 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.2617G>A (p.Val873Ile) single nucleotide variant not provided [RCV000893975] Chr21:44405220 [GRCh38]
Chr21:45825103 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4260C>T (p.Cys1420=) single nucleotide variant not provided [RCV000967576] Chr21:44439159 [GRCh38]
Chr21:45859042 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1279C>T (p.Gln427Ter) single nucleotide variant not provided [RCV000919193] Chr21:44382781 [GRCh38]
Chr21:45802664 [GRCh37]
Chr21:21q22.3		 likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_003307.4(TRPM2):c.3050G>C (p.Arg1017Thr) single nucleotide variant Inborn genetic diseases [RCV003248319] Chr21:44413978 [GRCh38]
Chr21:45833861 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2057C>G (p.Ala686Gly) single nucleotide variant Inborn genetic diseases [RCV003245709] Chr21:44397871 [GRCh38]
Chr21:45817754 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4386+124G>A single nucleotide variant not provided [RCV001665057] Chr21:44441029 [GRCh38]
Chr21:45860912 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1046C>G (p.Pro349Arg) single nucleotide variant Inborn genetic diseases [RCV003252142] Chr21:44379028 [GRCh38]
Chr21:45798911 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2538+14C>T single nucleotide variant not provided [RCV001657286] Chr21:44401911 [GRCh38]
Chr21:45821794 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1014+287C>A single nucleotide variant not provided [RCV001688074] Chr21:44378060 [GRCh38]
Chr21:45797943 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2962+155A>G single nucleotide variant not provided [RCV001638671] Chr21:44406920 [GRCh38]
Chr21:45826803 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1932+151_1932+190del deletion not provided [RCV001686921] Chr21:44395701..44395740 [GRCh38]
Chr21:45815584..45815623 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3795+97C>T single nucleotide variant not provided [RCV001663198] Chr21:44425924 [GRCh38]
Chr21:45845807 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2962+96A>G single nucleotide variant not provided [RCV001672310] Chr21:44406861 [GRCh38]
Chr21:45826744 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2791-43C>T single nucleotide variant not provided [RCV001687309] Chr21:44406551 [GRCh38]
Chr21:45826434 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3146+265A>T single nucleotide variant not provided [RCV001657487] Chr21:44414339 [GRCh38]
Chr21:45834222 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1932+140_1932+148del deletion not provided [RCV001669571] Chr21:44395691..44395699 [GRCh38]
Chr21:45815574..45815582 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1933-10T>C single nucleotide variant not provided [RCV001540704] Chr21:44397737 [GRCh38]
Chr21:45817620 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2983C>G (p.His995Asp) single nucleotide variant not provided [RCV000965491] Chr21:44413911 [GRCh38]
Chr21:45833794 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.841_843del (p.His281del) deletion not provided [RCV000919192] Chr21:44375900..44375902 [GRCh38]
Chr21:45795783..45795785 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1235G>A (p.Arg412Lys) single nucleotide variant not provided [RCV000892773] Chr21:44382737 [GRCh38]
Chr21:45802620 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1923C>G (p.Ile641Met) single nucleotide variant not provided [RCV000885572] Chr21:44395542 [GRCh38]
Chr21:45815425 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_003307.4(TRPM2):c.3784G>A (p.Val1262Met) single nucleotide variant not provided [RCV000885573] Chr21:44425816 [GRCh38]
Chr21:45845699 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_003307.4(TRPM2):c.1153G>A (p.Val385Met) single nucleotide variant not provided [RCV000887637] Chr21:44379135 [GRCh38]
Chr21:45799018 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2688C>T (p.Arg896=) single nucleotide variant not provided [RCV000887638] Chr21:44405935 [GRCh38]
Chr21:45825818 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4106A>G (p.Lys1369Arg) single nucleotide variant not provided [RCV000961724] Chr21:44437106 [GRCh38]
Chr21:45856989 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1829G>A (p.Arg610His) single nucleotide variant not provided [RCV000898276] Chr21:44395448 [GRCh38]
Chr21:45815331 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.4075G>A (p.Glu1359Lys) single nucleotide variant not provided [RCV000882670] Chr21:44437075 [GRCh38]
Chr21:45856958 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.8:g.(?_45725202)_(45929269_?)dup duplication not provided [RCV001031163] Chr21:45725202..45929269 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2658-10C>T single nucleotide variant not provided [RCV000890422] Chr21:44405895 [GRCh38]
Chr21:45825778 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.496G>A (p.Val166Ile) single nucleotide variant not provided [RCV000958141] Chr21:44366826 [GRCh38]
Chr21:45786709 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2857C>T (p.Gln953Ter) single nucleotide variant not provided [RCV000913686] Chr21:44406660 [GRCh38]
Chr21:45826543 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3566= (p.Gln1189=) variation not provided [RCV000958041] Chr21:44424868 [GRCh38]
Chr21:45844751 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.393C>T (p.Val131=) single nucleotide variant not provided [RCV000911522] Chr21:44364252 [GRCh38]
Chr21:45784135 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.3829A>G (p.Thr1277Ala) single nucleotide variant not provided [RCV000911523] Chr21:44426693 [GRCh38]
Chr21:45846576 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4395C>T (p.His1465=) single nucleotide variant not provided [RCV000935038] Chr21:44441700 [GRCh38]
Chr21:45861583 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.2391G>T (p.Val797=) single nucleotide variant not provided [RCV000911621] Chr21:44401750 [GRCh38]
Chr21:45821633 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.771+8C>A single nucleotide variant not provided [RCV000912981] Chr21:44369351 [GRCh38]
Chr21:45789234 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_003307.4(TRPM2):c.3975-274C>T single nucleotide variant not provided [RCV001620295] Chr21:44434857 [GRCh38]
Chr21:45854740 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.455G>A (p.Ser152Asn) single nucleotide variant Inborn genetic diseases [RCV003253368] Chr21:44366785 [GRCh38]
Chr21:45786668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2209-165A>G single nucleotide variant not provided [RCV001720493] Chr21:44400094 [GRCh38]
Chr21:45819977 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2657+319T>G single nucleotide variant not provided [RCV001637243] Chr21:44405579 [GRCh38]
Chr21:45825462 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2322-35T>C single nucleotide variant not provided [RCV001656349] Chr21:44401646 [GRCh38]
Chr21:45821529 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.*90T>C single nucleotide variant not provided [RCV001689341] Chr21:44441907 [GRCh38]
Chr21:45861790 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2791-15C>A single nucleotide variant not provided [RCV001677855] Chr21:44406579 [GRCh38]
Chr21:45826462 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3147-20T>C single nucleotide variant not provided [RCV001674358] Chr21:44417907 [GRCh38]
Chr21:45837790 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3975-89G>A single nucleotide variant not provided [RCV001679794] Chr21:44435042 [GRCh38]
Chr21:45854925 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.4062-330T>C single nucleotide variant not provided [RCV001707335] Chr21:44436732 [GRCh38]
Chr21:45856615 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1932+141G>A single nucleotide variant not provided [RCV001694651] Chr21:44395692 [GRCh38]
Chr21:45815575 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3461+194C>T single nucleotide variant not provided [RCV001651577] Chr21:44418749 [GRCh38]
Chr21:45838632 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.424-269= single nucleotide variant not provided [RCV001648561] Chr21:44366485 [GRCh38]
Chr21:45786368 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2790+55G>A single nucleotide variant not provided [RCV001691818] Chr21:44406092 [GRCh38]
Chr21:45825975 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.8:g.(?_45725202)_(46234019_?)dup duplication not provided [RCV001033924] Chr21:45725202..46234019 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3550-134C>T single nucleotide variant not provided [RCV001641200] Chr21:44424718 [GRCh38]
Chr21:45844601 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_45629566)_(46330717_?)del deletion Polyglandular autoimmune syndrome, type 1 [RCV001381160] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_003307.4(TRPM2):c.1932+196G>A single nucleotide variant not provided [RCV001693864] Chr21:44395747 [GRCh38]
Chr21:45815630 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1932+142del deletion not provided [RCV001710976] Chr21:44395691 [GRCh38]
Chr21:45815574 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3146+68T>C single nucleotide variant not provided [RCV001685807] Chr21:44414142 [GRCh38]
Chr21:45834025 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2962+304A>T single nucleotide variant not provided [RCV001654248] Chr21:44407069 [GRCh38]
Chr21:45826952 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233) copy number loss not specified [RCV002052743] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1 copy number loss not provided [RCV002291533] Chr21:45808650..47529568 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_003307.4(TRPM2):c.1636C>A (p.Arg546Ser) single nucleotide variant Inborn genetic diseases [RCV003304287] Chr21:44391467 [GRCh38]
Chr21:45811350 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.257A>G (p.Lys86Arg) single nucleotide variant Inborn genetic diseases [RCV003262443] Chr21:44364116 [GRCh38]
Chr21:45783999 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2726G>A (p.Arg909Gln) single nucleotide variant Inborn genetic diseases [RCV003285162] Chr21:44405973 [GRCh38]
Chr21:45825856 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45727195-46161988)x4 copy number gain not provided [RCV002474918] Chr21:45727195..46161988 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2956A>C (p.Ile986Leu) single nucleotide variant Inborn genetic diseases [RCV002906043] Chr21:44406759 [GRCh38]
Chr21:45826642 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3728G>A (p.Arg1243Gln) single nucleotide variant Inborn genetic diseases [RCV002945243] Chr21:44425760 [GRCh38]
Chr21:45845643 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4270G>A (p.Val1424Met) single nucleotide variant Inborn genetic diseases [RCV002754604] Chr21:44440789 [GRCh38]
Chr21:45860672 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3848C>T (p.Ala1283Val) single nucleotide variant Inborn genetic diseases [RCV002688916] Chr21:44426712 [GRCh38]
Chr21:45846595 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2822T>G (p.Leu941Arg) single nucleotide variant Inborn genetic diseases [RCV002732145] Chr21:44406625 [GRCh38]
Chr21:45826508 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1901G>A (p.Arg634His) single nucleotide variant Inborn genetic diseases [RCV002991143] Chr21:44395520 [GRCh38]
Chr21:45815403 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.623G>C (p.Gly208Ala) single nucleotide variant Inborn genetic diseases [RCV002688782] Chr21:44369195 [GRCh38]
Chr21:45789078 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4096A>G (p.Lys1366Glu) single nucleotide variant Inborn genetic diseases [RCV002969982] Chr21:44437096 [GRCh38]
Chr21:45856979 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4453T>C (p.Tyr1485His) single nucleotide variant Inborn genetic diseases [RCV002902764] Chr21:44441758 [GRCh38]
Chr21:45861641 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2801T>G (p.Val934Gly) single nucleotide variant Inborn genetic diseases [RCV002683551] Chr21:44406604 [GRCh38]
Chr21:45826487 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2278A>C (p.Met760Leu) single nucleotide variant Inborn genetic diseases [RCV002688309] Chr21:44400328 [GRCh38]
Chr21:45820211 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1754G>A (p.Arg585Gln) single nucleotide variant Inborn genetic diseases [RCV002754844] Chr21:44391585 [GRCh38]
Chr21:45811468 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2881C>G (p.Arg961Gly) single nucleotide variant Inborn genetic diseases [RCV002883837] Chr21:44406684 [GRCh38]
Chr21:45826567 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3174C>G (p.His1058Gln) single nucleotide variant Inborn genetic diseases [RCV002907292] Chr21:44417954 [GRCh38]
Chr21:45837837 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3041C>T (p.Thr1014Met) single nucleotide variant Inborn genetic diseases [RCV002974656] Chr21:44413969 [GRCh38]
Chr21:45833852 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2672C>T (p.Thr891Met) single nucleotide variant Inborn genetic diseases [RCV002993021] Chr21:44405919 [GRCh38]
Chr21:45825802 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.859G>A (p.Val287Met) single nucleotide variant Inborn genetic diseases [RCV002969772] Chr21:44375920 [GRCh38]
Chr21:45795803 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1391G>A (p.Arg464His) single nucleotide variant Inborn genetic diseases [RCV002728113] Chr21:44390976 [GRCh38]
Chr21:45810859 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45460343-45817256)x3 copy number gain not provided [RCV002475753] Chr21:45460343..45817256 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1582C>T (p.Pro528Ser) single nucleotide variant Inborn genetic diseases [RCV002686536] Chr21:44391413 [GRCh38]
Chr21:45811296 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2689G>A (p.Val897Ile) single nucleotide variant Inborn genetic diseases [RCV002946599] Chr21:44405936 [GRCh38]
Chr21:45825819 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.784G>A (p.Ala262Thr) single nucleotide variant Inborn genetic diseases [RCV002754595] Chr21:44375845 [GRCh38]
Chr21:45795728 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45843864-46176026)x3 copy number gain not provided [RCV002475676] Chr21:45843864..46176026 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3956T>C (p.Val1319Ala) single nucleotide variant Inborn genetic diseases [RCV002849597] Chr21:44427093 [GRCh38]
Chr21:45846976 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3865A>G (p.Met1289Val) single nucleotide variant Inborn genetic diseases [RCV002704424] Chr21:44426729 [GRCh38]
Chr21:45846612 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.2881C>T (p.Arg961Cys) single nucleotide variant Inborn genetic diseases [RCV002924913] Chr21:44406684 [GRCh38]
Chr21:45826567 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4339G>A (p.Val1447Ile) single nucleotide variant Inborn genetic diseases [RCV002759481] Chr21:44440858 [GRCh38]
Chr21:45860741 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1736G>A (p.Arg579Gln) single nucleotide variant Inborn genetic diseases [RCV002925488] Chr21:44391567 [GRCh38]
Chr21:45811450 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4508A>G (p.Tyr1503Cys) single nucleotide variant Inborn genetic diseases [RCV002738137] Chr21:44441813 [GRCh38]
Chr21:45861696 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4174C>T (p.Arg1392Trp) single nucleotide variant Inborn genetic diseases [RCV002998106] Chr21:44439073 [GRCh38]
Chr21:45858956 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3949T>C (p.Tyr1317His) single nucleotide variant Inborn genetic diseases [RCV002785120] Chr21:44427086 [GRCh38]
Chr21:45846969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.352C>T (p.His118Tyr) single nucleotide variant Inborn genetic diseases [RCV002869881] Chr21:44364211 [GRCh38]
Chr21:45784094 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2687G>A (p.Arg896His) single nucleotide variant Inborn genetic diseases [RCV003000428] Chr21:44405934 [GRCh38]
Chr21:45825817 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1336C>A (p.His446Asn) single nucleotide variant Inborn genetic diseases [RCV002799568] Chr21:44390921 [GRCh38]
Chr21:45810804 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3931C>T (p.Arg1311Trp) single nucleotide variant Inborn genetic diseases [RCV002980748] Chr21:44427068 [GRCh38]
Chr21:45846951 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1231C>T (p.Arg411Trp) single nucleotide variant Inborn genetic diseases [RCV002884497] Chr21:44382733 [GRCh38]
Chr21:45802616 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1273G>T (p.Gly425Cys) single nucleotide variant Inborn genetic diseases [RCV002699508] Chr21:44382775 [GRCh38]
Chr21:45802658 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2560T>C (p.Cys854Arg) single nucleotide variant Inborn genetic diseases [RCV002696460] Chr21:44405163 [GRCh38]
Chr21:45825046 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3280A>C (p.Ile1094Leu) single nucleotide variant Inborn genetic diseases [RCV002744966] Chr21:44418060 [GRCh38]
Chr21:45837943 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3173A>C (p.His1058Pro) single nucleotide variant Inborn genetic diseases [RCV002804528] Chr21:44417953 [GRCh38]
Chr21:45837836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4457C>T (p.Ala1486Val) single nucleotide variant Inborn genetic diseases [RCV002955414] Chr21:44441762 [GRCh38]
Chr21:45861645 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1681G>A (p.Val561Met) single nucleotide variant Inborn genetic diseases [RCV002767534] Chr21:44391512 [GRCh38]
Chr21:45811395 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4292A>G (p.Asp1431Gly) single nucleotide variant Inborn genetic diseases [RCV002853663] Chr21:44440811 [GRCh38]
Chr21:45860694 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3914A>T (p.Asp1305Val) single nucleotide variant Inborn genetic diseases [RCV002748391] Chr21:44427051 [GRCh38]
Chr21:45846934 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.329G>A (p.Gly110Asp) single nucleotide variant Inborn genetic diseases [RCV002878404] Chr21:44364188 [GRCh38]
Chr21:45784071 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2645G>A (p.Gly882Glu) single nucleotide variant Inborn genetic diseases [RCV002939719] Chr21:44405248 [GRCh38]
Chr21:45825131 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.151G>A (p.Gly51Ser) single nucleotide variant Inborn genetic diseases [RCV002940712] Chr21:44353851 [GRCh38]
Chr21:45773734 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2686C>A (p.Arg896Ser) single nucleotide variant Inborn genetic diseases [RCV002674216] Chr21:44405933 [GRCh38]
Chr21:45825816 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.701G>T (p.Gly234Val) single nucleotide variant Inborn genetic diseases [RCV002963625] Chr21:44369273 [GRCh38]
Chr21:45789156 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1735C>T (p.Arg579Trp) single nucleotide variant Inborn genetic diseases [RCV002965235] Chr21:44391566 [GRCh38]
Chr21:45811449 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1868G>A (p.Arg623His) single nucleotide variant Inborn genetic diseases [RCV002989512] Chr21:44395487 [GRCh38]
Chr21:45815370 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3038C>T (p.Ala1013Val) single nucleotide variant Inborn genetic diseases [RCV002672979] Chr21:44413966 [GRCh38]
Chr21:45833849 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.4238C>G (p.Ser1413Cys) single nucleotide variant Inborn genetic diseases [RCV002934656] Chr21:44439137 [GRCh38]
Chr21:45859020 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2651C>A (p.Thr884Asn) single nucleotide variant Inborn genetic diseases [RCV002896845] Chr21:44405254 [GRCh38]
Chr21:45825137 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2534G>A (p.Arg845Gln) single nucleotide variant Inborn genetic diseases [RCV002920781] Chr21:44401893 [GRCh38]
Chr21:45821776 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.182C>T (p.Ser61Leu) single nucleotide variant Inborn genetic diseases [RCV002940061] Chr21:44354664 [GRCh38]
Chr21:45774547 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1357G>A (p.Asp453Asn) single nucleotide variant Inborn genetic diseases [RCV003299528] Chr21:44390942 [GRCh38]
Chr21:45810825 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3577T>C (p.Trp1193Arg) single nucleotide variant Inborn genetic diseases [RCV003193805] Chr21:44424879 [GRCh38]
Chr21:45844762 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2254G>A (p.Gly752Arg) single nucleotide variant Inborn genetic diseases [RCV003219804] Chr21:44400304 [GRCh38]
Chr21:45820187 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2291C>T (p.Pro764Leu) single nucleotide variant Inborn genetic diseases [RCV003185156] Chr21:44400341 [GRCh38]
Chr21:45820224 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3989G>A (p.Arg1330His) single nucleotide variant Inborn genetic diseases [RCV003207752] Chr21:44435145 [GRCh38]
Chr21:45855028 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.748C>G (p.Arg250Gly) single nucleotide variant Inborn genetic diseases [RCV003207519] Chr21:44369320 [GRCh38]
Chr21:45789203 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3662C>T (p.Pro1221Leu) single nucleotide variant Inborn genetic diseases [RCV003183262] Chr21:44425694 [GRCh38]
Chr21:45845577 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2147C>A (p.Thr716Asn) single nucleotide variant Inborn genetic diseases [RCV003218263] Chr21:44399380 [GRCh38]
Chr21:45819263 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2992C>T (p.Pro998Ser) single nucleotide variant Inborn genetic diseases [RCV003309288] Chr21:44413920 [GRCh38]
Chr21:45833803 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1184C>T (p.Thr395Met) single nucleotide variant Inborn genetic diseases [RCV003359455] Chr21:44379166 [GRCh38]
Chr21:45799049 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.862G>T (p.Asp288Tyr) single nucleotide variant Inborn genetic diseases [RCV003354561] Chr21:44375923 [GRCh38]
Chr21:45795806 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1354T>G (p.Trp452Gly) single nucleotide variant Inborn genetic diseases [RCV003384964] Chr21:44390939 [GRCh38]
Chr21:45810822 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.4129G>A (p.Val1377Met) single nucleotide variant Inborn genetic diseases [RCV003364741] Chr21:44437129 [GRCh38]
Chr21:45857012 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1207A>G (p.Thr403Ala) single nucleotide variant Inborn genetic diseases [RCV003364832] Chr21:44379189 [GRCh38]
Chr21:45799072 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1658C>T (p.Ala553Val) single nucleotide variant Inborn genetic diseases [RCV003349105] Chr21:44391489 [GRCh38]
Chr21:45811372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2398C>T (p.His800Tyr) single nucleotide variant Inborn genetic diseases [RCV003370279] Chr21:44401757 [GRCh38]
Chr21:45821640 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3943G>A (p.Gly1315Arg) single nucleotide variant Inborn genetic diseases [RCV003368626] Chr21:44427080 [GRCh38]
Chr21:45846963 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.3718G>A (p.Val1240Met) single nucleotide variant Inborn genetic diseases [RCV003363306] Chr21:44425750 [GRCh38]
Chr21:45845633 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.1043C>G (p.Thr348Ser) single nucleotide variant Inborn genetic diseases [RCV003364233] Chr21:44379025 [GRCh38]
Chr21:45798908 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_003307.4(TRPM2):c.2669C>T (p.Ala890Val) single nucleotide variant not provided [RCV003431543] Chr21:44405916 [GRCh38]
Chr21:45825799 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_003307.4(TRPM2):c.1380G>A (p.Val460=) single nucleotide variant not provided [RCV003431539] Chr21:44390965 [GRCh38]
Chr21:45810848 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.3684_3710del (p.Arg1228_Asp1236del) deletion not provided [RCV003431547] Chr21:44425713..44425739 [GRCh38]
Chr21:45845596..45845622 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.1814G>A (p.Arg605Gln) single nucleotide variant not provided [RCV003431541] Chr21:44395433 [GRCh38]
Chr21:45815316 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1014C>T (p.His338=) single nucleotide variant not provided [RCV003431538] Chr21:44377773 [GRCh38]
Chr21:45797656 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.3053C>T (p.Pro1018Leu) single nucleotide variant not provided [RCV003431545] Chr21:44413981 [GRCh38]
Chr21:45833864 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.1405C>T (p.Arg469Cys) single nucleotide variant not provided [RCV003431540] Chr21:44390990 [GRCh38]
Chr21:45810873 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.3653C>A (p.Ala1218Glu) single nucleotide variant not provided [RCV003431546] Chr21:44425685 [GRCh38]
Chr21:45845568 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.3729G>C (p.Arg1243=) single nucleotide variant not provided [RCV003431548] Chr21:44425761 [GRCh38]
Chr21:45845644 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.4266G>A (p.Met1422Ile) single nucleotide variant not provided [RCV003431549] Chr21:44439165 [GRCh38]
Chr21:45859048 [GRCh37]
Chr21:21q22.3		 likely benign
NM_003307.4(TRPM2):c.2725C>T (p.Arg909Trp) single nucleotide variant not provided [RCV003431544] Chr21:44405972 [GRCh38]
Chr21:45825855 [GRCh37]
Chr21:21q22.3		 benign
NM_003307.4(TRPM2):c.2661C>T (p.Leu887=) single nucleotide variant not provided [RCV003431542] Chr21:44405908 [GRCh38]
Chr21:45825791 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3878
Count of miRNA genes:751
Interacting mature miRNAs:882
Transcripts:ENST00000300481, ENST00000300482, ENST00000397928, ENST00000397932, ENST00000431901, ENST00000490982, ENST00000498430
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-87688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,862,420 - 45,862,519UniSTSGRCh37
Build 362144,686,848 - 44,686,947RGDNCBI36
Celera2130,970,508 - 30,970,607RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,236,749 - 31,236,848UniSTS
TNG Radiation Hybrid Map2118876.0UniSTS
GeneMap99-GB4 RH Map21242.11UniSTS
Whitehead-RH Map21258.8UniSTS
NCBI RH Map21407.7UniSTS
SHGC-51813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,782,437 - 45,782,654UniSTSGRCh37
Build 362144,606,865 - 44,607,082RGDNCBI36
Celera2130,887,612 - 30,887,829RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,152,767 - 31,152,984UniSTS
TNG Radiation Hybrid Map2118837.0UniSTS
SHGC-154943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,861,041 - 45,861,315UniSTSGRCh37
Build 362144,685,469 - 44,685,743RGDNCBI36
Celera2130,969,128 - 30,969,403RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,235,480 - 31,235,755UniSTS
TNG Radiation Hybrid Map2118876.0UniSTS
STS_CEB243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,789,239 - 45,790,003UniSTSGRCh37
Build 362144,613,667 - 44,614,431RGDNCBI36
Celera2130,894,415 - 30,895,179RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,159,570 - 31,160,334UniSTS
STS_CEB244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,790,887 - 45,791,529UniSTSGRCh37
Build 362144,615,315 - 44,615,957RGDNCBI36
Celera2130,896,063 - 30,896,705RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,161,218 - 31,161,860UniSTS
STS_CEB245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,855,249 - 45,856,149UniSTSGRCh37
Build 362144,679,677 - 44,680,577RGDNCBI36
Celera2130,963,305 - 30,964,205RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,229,639 - 31,230,539UniSTS
D21S1870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,782,588 - 45,782,689UniSTSGRCh37
Build 362144,607,016 - 44,607,117RGDNCBI36
Celera2130,887,763 - 30,887,864RGD
Cytogenetic Map21q22.3UniSTS
HuRef2131,152,918 - 31,153,019UniSTS
Trpm2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,860,708 - 45,861,664UniSTSGRCh37
Celera2130,968,795 - 30,969,752UniSTS
HuRef2131,235,147 - 31,236,104UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 127 471 18 3 817 4 35 6 1432 19 123 123 3 3 8 1
Low 2204 1784 1514 449 976 296 3306 1109 2218 317 1230 1370 158 1189 1956 2
Below cutoff 87 729 185 166 108 160 991 1070 40 71 77 75 8 12 824 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_022913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_038257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB001535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB017549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB166745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB166746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ417076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ878416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY603182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI755424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI906484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ012935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU362987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R85260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300481   ⟹   ENSP00000300481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,353,688 - 44,443,081 (+)Ensembl
RefSeq Acc Id: ENST00000300482   ⟹   ENSP00000300482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,350,163 - 44,443,081 (+)Ensembl
RefSeq Acc Id: ENST00000397928   ⟹   ENSP00000381023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,353,621 - 44,442,644 (+)Ensembl
RefSeq Acc Id: ENST00000397932   ⟹   ENSP00000381026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,353,688 - 44,442,358 (+)Ensembl
RefSeq Acc Id: ENST00000431901   ⟹   ENSP00000393982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,350,304 - 44,366,761 (+)Ensembl
RefSeq Acc Id: ENST00000490982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,425,556 - 44,441,874 (+)Ensembl
RefSeq Acc Id: ENST00000498430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,369,121 - 44,443,081 (+)Ensembl
RefSeq Acc Id: ENST00000621064   ⟹   ENSP00000477514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,424,869 - 44,442,644 (+)Ensembl
RefSeq Acc Id: NM_001320350   ⟹   NP_001307279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,442,644 (+)NCBI
CHM1_12145,334,322 - 45,423,804 (+)NCBI
T2T-CHM13v2.02142,707,708 - 42,803,115 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320351   ⟹   NP_001307280
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,442,644 (+)NCBI
CHM1_12145,334,322 - 45,423,804 (+)NCBI
T2T-CHM13v2.02142,707,708 - 42,803,115 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320352   ⟹   NP_001307281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,425,650 - 44,442,644 (+)NCBI
CHM1_12145,405,912 - 45,423,804 (+)NCBI
T2T-CHM13v2.02142,786,121 - 42,803,115 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003307   ⟹   NP_003298
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,442,644 (+)NCBI
GRCh372145,770,046 - 45,862,964 (+)NCBI
Build 362144,597,912 - 44,687,392 (+)NCBI Archive
HuRef2131,143,769 - 31,237,293 (+)ENTREZGENE
CHM1_12145,334,322 - 45,423,804 (+)NCBI
T2T-CHM13v2.02142,707,708 - 42,803,115 (+)NCBI
Sequence:
RefSeq Acc Id: NR_038257
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,442,644 (+)NCBI
GRCh372145,770,046 - 45,862,964 (+)NCBI
HuRef2131,143,769 - 31,237,293 (+)ENTREZGENE
CHM1_12145,334,322 - 45,423,804 (+)NCBI
T2T-CHM13v2.02142,707,708 - 42,803,115 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529736   ⟹   XP_011528038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,442,644 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028457   ⟹   XP_016883946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,442,644 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440977   ⟹   XP_047296933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,425,798 (+)NCBI
RefSeq Acc Id: XM_047440978   ⟹   XP_047296934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,423,725 (+)NCBI
RefSeq Acc Id: XM_047440979   ⟹   XP_047296935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,621 - 44,418,091 (+)NCBI
RefSeq Acc Id: XM_054324832   ⟹   XP_054180807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,704,215 - 42,803,115 (+)NCBI
RefSeq Acc Id: XM_054324833   ⟹   XP_054180808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,707,708 - 42,803,115 (+)NCBI
RefSeq Acc Id: XM_054324834   ⟹   XP_054180809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,707,708 - 42,786,269 (+)NCBI
RefSeq Acc Id: XM_054324835   ⟹   XP_054180810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,707,708 - 42,784,196 (+)NCBI
RefSeq Acc Id: XM_054324836   ⟹   XP_054180811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02142,707,708 - 42,775,142 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001307279 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307280 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307281 (Get FASTA)   NCBI Sequence Viewer  
  NP_003298 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528038 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296933 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296934 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296935 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180810 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180811 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI12343 (Get FASTA)   NCBI Sequence Viewer  
  AAT12288 (Get FASTA)   NCBI Sequence Viewer  
  AAY22174 (Get FASTA)   NCBI Sequence Viewer  
  ACA62700 (Get FASTA)   NCBI Sequence Viewer  
  BAA34700 (Get FASTA)   NCBI Sequence Viewer  
  BAA95563 (Get FASTA)   NCBI Sequence Viewer  
  BAB64300 (Get FASTA)   NCBI Sequence Viewer  
  BAD83705 (Get FASTA)   NCBI Sequence Viewer  
  BAD83706 (Get FASTA)   NCBI Sequence Viewer  
  BAG62700 (Get FASTA)   NCBI Sequence Viewer  
  BAG62975 (Get FASTA)   NCBI Sequence Viewer  
  CAD01139 (Get FASTA)   NCBI Sequence Viewer  
  CAI47593 (Get FASTA)   NCBI Sequence Viewer  
  EAX09426 (Get FASTA)   NCBI Sequence Viewer  
  EAX09427 (Get FASTA)   NCBI Sequence Viewer  
  EAX09428 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000300481
  ENSP00000300481.9
  ENSP00000300482.5
  ENSP00000381023
  ENSP00000381023.1
  ENSP00000381026
  ENSP00000381026.2
  ENSP00000393982.1
GenBank Protein O94759 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003298   ⟸   NM_003307
- Peptide Label: isoform 1
- UniProtKB: Q96KN6 (UniProtKB/Swiss-Prot),   Q6J3P5 (UniProtKB/Swiss-Prot),   Q5KTC2 (UniProtKB/Swiss-Prot),   O94759 (UniProtKB/Swiss-Prot),   D3DSL6 (UniProtKB/Swiss-Prot),   Q96Q93 (UniProtKB/Swiss-Prot),   Q14DR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528038   ⟸   XM_011529736
- Peptide Label: isoform X1
- UniProtKB: Q14DR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307279   ⟸   NM_001320350
- Peptide Label: isoform 2
- UniProtKB: E9PGK7 (UniProtKB/TrEMBL),   Q14DR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307280   ⟸   NM_001320351
- Peptide Label: isoform 3
- UniProtKB: Q14DR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307281   ⟸   NM_001320352
- Peptide Label: isoform 4
- UniProtKB: B4DVI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883946   ⟸   XM_017028457
- Peptide Label: isoform X2
- UniProtKB: Q14DR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000477514   ⟸   ENST00000621064
RefSeq Acc Id: ENSP00000393982   ⟸   ENST00000431901
RefSeq Acc Id: ENSP00000300482   ⟸   ENST00000300482
RefSeq Acc Id: ENSP00000300481   ⟸   ENST00000300481
RefSeq Acc Id: ENSP00000381023   ⟸   ENST00000397928
RefSeq Acc Id: ENSP00000381026   ⟸   ENST00000397932
RefSeq Acc Id: XP_047296933   ⟸   XM_047440977
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047296934   ⟸   XM_047440978
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047296935   ⟸   XM_047440979
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054180807   ⟸   XM_054324832
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054180808   ⟸   XM_054324833
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180809   ⟸   XM_054324834
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054180810   ⟸   XM_054324835
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054180811   ⟸   XM_054324836
- Peptide Label: isoform X5
Protein Domains
Nudix hydrolase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O94759-F1-model_v2 AlphaFold O94759 1-1503 view protein structure

Promoters
RGD ID:13603016
Promoter ID:EPDNEW_H27692
Type:initiation region
Name:TRPM2_2
Description:transient receptor potential cation channel subfamily M member2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27693  EPDNEW_H27694  EPDNEW_H27695  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,350,141 - 44,350,201EPDNEW
RGD ID:13603018
Promoter ID:EPDNEW_H27693
Type:initiation region
Name:TRPM2_1
Description:transient receptor potential cation channel subfamily M member2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27692  EPDNEW_H27694  EPDNEW_H27695  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,353,623 - 44,353,683EPDNEW
RGD ID:13603020
Promoter ID:EPDNEW_H27694
Type:initiation region
Name:TRPM2_4
Description:transient receptor potential cation channel subfamily M member2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27692  EPDNEW_H27693  EPDNEW_H27695  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,369,030 - 44,369,090EPDNEW
RGD ID:13603022
Promoter ID:EPDNEW_H27695
Type:initiation region
Name:TRPM2_3
Description:transient receptor potential cation channel subfamily M member2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27692  EPDNEW_H27693  EPDNEW_H27694  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,425,650 - 44,425,710EPDNEW
RGD ID:6799403
Promoter ID:HG_KWN:41168
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000300481,   ENST00000397928,   ENST00000397932
Position:
Human AssemblyChrPosition (strand)Source
Build 362144,596,806 - 44,598,117 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12339 AgrOrtholog
COSMIC TRPM2 COSMIC
Ensembl Genes ENSG00000142185 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300481 ENTREZGENE
  ENST00000300481.13 UniProtKB/Swiss-Prot
  ENST00000300482.9 UniProtKB/Swiss-Prot
  ENST00000397928 ENTREZGENE
  ENST00000397928.6 UniProtKB/Swiss-Prot
  ENST00000397932 ENTREZGENE
  ENST00000397932.6 UniProtKB/TrEMBL
  ENST00000431901.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleoside Triphosphate Pyrophosphohydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142185 GTEx
HGNC ID HGNC:12339 ENTREZGENE
Human Proteome Map TRPM2 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_hydrolase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDIX_hydrolase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUDT9 UniProtKB/TrEMBL
  TRPM_SLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7226 UniProtKB/Swiss-Prot
NCBI Gene 7226 ENTREZGENE
OMIM 603749 OMIM
PANTHER BCDNA.LD24702 UniProtKB/TrEMBL
  NUDIX HYDROLASE UniProtKB/TrEMBL
  PTHR13800:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LSDAT_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37012 PharmGKB
PROSITE NUDIX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55811 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DVI8 ENTREZGENE, UniProtKB/TrEMBL
  C9JZQ8_HUMAN UniProtKB/TrEMBL
  D3DSL6 ENTREZGENE
  E9PGK7 ENTREZGENE, UniProtKB/TrEMBL
  O94759 ENTREZGENE
  Q14DR2 ENTREZGENE, UniProtKB/TrEMBL
  Q5KTC1_HUMAN UniProtKB/TrEMBL
  Q5KTC2 ENTREZGENE
  Q6J3P5 ENTREZGENE
  Q96KN6 ENTREZGENE
  Q96Q93 ENTREZGENE
  TRPM2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DSL6 UniProtKB/Swiss-Prot
  Q5KTC2 UniProtKB/Swiss-Prot
  Q6J3P5 UniProtKB/Swiss-Prot
  Q96KN6 UniProtKB/Swiss-Prot
  Q96Q93 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPM2  transient receptor potential cation channel subfamily M member 2  TRPM2  transient receptor potential cation channel, subfamily M, member 2  Symbol and/or name change 5135510 APPROVED