JAG2 (jagged canonical Notch ligand 2) - Rat Genome Database

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Gene: JAG2 (jagged canonical Notch ligand 2) Homo sapiens
Analyze
Symbol: JAG2
Name: jagged canonical Notch ligand 2
RGD ID: 733495
HGNC Page HGNC:6189
Description: Enables Notch binding activity and growth factor activity. Involved in regulation of cell population proliferation; spermatogenesis; and thymic T cell selection. Predicted to be located in plasma membrane. Implicated in autosomal recessive limb-girdle muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HJ2; jagged 2; LGMDR27; protein jagged-2; SER2
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
GRCh3814105,140,995 - 105,168,776 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,140,982 - 105,168,824 (-)EnsemblGRCh38hg38GRCh38
GRCh3714105,607,332 - 105,635,113 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,679,121 - 104,706,206 (-)NCBINCBI36Build 36hg18NCBI36
Build 3414104,679,120 - 104,706,206NCBI
Celera1485,661,503 - 85,688,392 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,798,697 - 85,815,481 (-)NCBIHuRef
CHM1_114105,545,299 - 105,572,922 (-)NCBICHM1_1
T2T-CHM13v2.01499,382,854 - 99,410,701 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-methyladenine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calciol  (ISO)
calcitriol  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
doxorubicin  (EXP)
enzalutamide  (EXP)
ethanol  (EXP)
fipronil  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
isobutanol  (EXP)
ketamine  (ISO)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (EXP)
Muraglitazar  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (ISO)
phenethyl isothiocyanate  (EXP)
piroxicam  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tebuconazole  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Human ligands of the Notch receptor. Gray GE, etal., Am J Pathol 1999 Mar;154(3):785-94.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Jagged2: a serrate-like gene expressed during rat embryogenesis. Shawber C, etal., Dev Biol 1996 Nov 25;180(1):370-6.
Additional References at PubMed
PMID:9315665   PMID:9486542   PMID:10080181   PMID:10383933   PMID:10524757   PMID:10662552   PMID:10910909   PMID:10958687   PMID:11006133   PMID:11056013   PMID:11549580   PMID:11700865  
PMID:12477932   PMID:12551931   PMID:15292061   PMID:15920166   PMID:16327884   PMID:16713569   PMID:16899352   PMID:18439488   PMID:19049519   PMID:19054571   PMID:19417136   PMID:20040020  
PMID:20133585   PMID:20237496   PMID:20572854   PMID:20634891   PMID:20672350   PMID:20819128   PMID:21048031   PMID:21078624   PMID:21372153   PMID:21402725   PMID:21499308   PMID:21602525  
PMID:21653829   PMID:21873635   PMID:21892607   PMID:22030773   PMID:22341562   PMID:22691042   PMID:23074278   PMID:24228105   PMID:24351288   PMID:24605944   PMID:24670287   PMID:24708907  
PMID:24710391   PMID:24907271   PMID:25060200   PMID:25257302   PMID:25351917   PMID:25576913   PMID:26151095   PMID:26186194   PMID:26412454   PMID:26638075   PMID:28111308   PMID:28514442  
PMID:28572448   PMID:28611215   PMID:29117863   PMID:30280784   PMID:30296338   PMID:30473216   PMID:31056421   PMID:31073040   PMID:31871319   PMID:31922603   PMID:32250571   PMID:32792862  
PMID:33861953   PMID:33961781   PMID:34079125   PMID:34709727   PMID:35271311   PMID:35563538   PMID:35696571   PMID:35748872   PMID:37966490   PMID:38395762   PMID:38485033   PMID:38575576  
PMID:38636522   PMID:38750026   PMID:39121631   PMID:39499777  


Genomics

Comparative Map Data
JAG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814105,140,995 - 105,168,776 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14105,140,982 - 105,168,824 (-)EnsemblGRCh38hg38GRCh38
GRCh3714105,607,332 - 105,635,113 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,679,121 - 104,706,206 (-)NCBINCBI36Build 36hg18NCBI36
Build 3414104,679,120 - 104,706,206NCBI
Celera1485,661,503 - 85,688,392 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,798,697 - 85,815,481 (-)NCBIHuRef
CHM1_114105,545,299 - 105,572,922 (-)NCBICHM1_1
T2T-CHM13v2.01499,382,854 - 99,410,701 (-)NCBIT2T-CHM13v2.0
Jag2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912112,871,439 - 112,893,437 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12112,871,439 - 112,893,396 (-)EnsemblGRCm39 Ensembl
GRCm3812112,907,803 - 112,929,812 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12112,907,819 - 112,929,776 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712114,146,801 - 114,167,706 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612113,356,398 - 113,377,303 (-)NCBIMGSCv36mm8
Celera12114,118,903 - 114,139,458 (-)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.37NCBI
Jag2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86137,804,133 - 137,826,738 (-)NCBIGRCr8
mRatBN7.26131,983,059 - 132,005,665 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6131,983,056 - 132,005,818 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6132,152,615 - 132,174,787 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06132,442,522 - 132,464,547 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06131,817,423 - 131,839,474 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06137,711,144 - 137,733,331 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6137,711,155 - 137,733,026 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06146,707,326 - 146,729,504 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46137,909,633 - 137,931,120 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16137,916,169 - 137,936,985 (-)NCBI
Celera6129,521,212 - 129,543,266 (-)NCBICelera
Cytogenetic Map6q32NCBI
Jag2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555383,421,685 - 3,433,842 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555383,421,685 - 3,433,829 (-)NCBIChiLan1.0ChiLan1.0
JAG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215106,321,986 - 106,348,518 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114105,538,488 - 105,565,020 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01485,785,586 - 85,812,056 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114105,569,837 - 105,604,408 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14105,569,837 - 105,585,878 (-)Ensemblpanpan1.1panPan2
JAG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1872,535,539 - 72,553,531 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl872,535,107 - 72,550,322 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha872,047,599 - 72,068,957 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0872,823,360 - 72,848,984 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl872,822,931 - 72,856,860 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1872,503,851 - 72,525,225 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0872,554,984 - 72,576,363 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0872,944,852 - 72,966,232 (-)NCBIUU_Cfam_GSD_1.0
Jag2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086401,534,532 - 1,551,659 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936621366,616 - 380,618 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936621363,489 - 380,616 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JAG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.27131,225,201 - 131,245,220 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JAG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12483,050,412 - 83,081,982 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2483,051,368 - 83,076,820 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605370,482,903 - 70,500,481 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jag2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624734308,375 - 327,604 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624734308,371 - 327,496 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in JAG2
197 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1 copy number loss See cases [RCV000051204] Chr14:105141364..106855263 [GRCh38]
Chr14:105607701..107263478 [GRCh37]
Chr14:104678746..106334523 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105141364-105987610)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]|See cases [RCV000052102] Chr14:105141364..105987610 [GRCh38]
Chr14:105607701..106453697 [GRCh37]
Chr14:104678746..105524742 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1 copy number loss See cases [RCV000135387] Chr14:104953508..106873666 [GRCh38]
Chr14:105419845..107281875 [GRCh37]
Chr14:104490890..106352920 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 copy number loss See cases [RCV000135781] Chr14:104622881..106678844 [GRCh38]
Chr14:105017236..107134861 [GRCh37]
Chr14:104088281..106205906 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1 copy number loss See cases [RCV000135897] Chr14:105023396..106850750 [GRCh38]
Chr14:105489733..107258965 [GRCh37]
Chr14:104560778..106330010 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1 copy number loss See cases [RCV000138844] Chr14:105105705..106879501 [GRCh38]
Chr14:105572042..107287708 [GRCh37]
Chr14:104643087..106358753 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3 copy number gain See cases [RCV000139617] Chr14:104872858..105605042 [GRCh38]
Chr14:105339195..105803170 [GRCh37]
Chr14:104410240..105239471 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 copy number loss See cases [RCV000142333] Chr14:104051258..106877229 [GRCh38]
Chr14:104517595..107285437 [GRCh37]
Chr14:103587348..106356482 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1 copy number loss See cases [RCV000142111] Chr14:105138612..106877229 [GRCh38]
Chr14:105604949..107285437 [GRCh37]
Chr14:104675994..106356482 [NCBI36]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 copy number loss See cases [RCV000142803] Chr14:103823600..106879298 [GRCh38]
Chr14:104289937..107287505 [GRCh37]
Chr14:103359690..106358550 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1 copy number loss See cases [RCV000239801] Chr14:105393054..105996538 [GRCh37]
Chr14:14q32.33		 uncertain significance
chr14:104643721..105932775 complex variant complex Breast ductal adenocarcinoma [RCV000207189] Chr14:104643721..105932775 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3004A>G (p.Arg1002Gly) single nucleotide variant Mendelian syndromes with cleft lip/palate [RCV003315098] Chr14:105145010 [GRCh38]
Chr14:105611347 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
NM_002226.5(JAG2):c.37CTG[6] (p.Leu17dup) microsatellite not specified [RCV000455499] Chr14:105168369..105168370 [GRCh38]
Chr14:105634706..105634707 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1 copy number loss See cases [RCV000511076] Chr14:104915608..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_002226.5(JAG2):c.266G>A (p.Ser89Asn) single nucleotide variant not specified [RCV004332944] Chr14:105167908 [GRCh38]
Chr14:105634245 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.577C>A (p.Gln193Lys) single nucleotide variant not specified [RCV004332945] Chr14:105155888 [GRCh38]
Chr14:105622225 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1810G>A (p.Gly604Ser) single nucleotide variant not specified [RCV004323752] Chr14:105149033 [GRCh38]
Chr14:105615370 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1093G>A (p.Val365Met) single nucleotide variant not specified [RCV004299496] Chr14:105151686 [GRCh38]
Chr14:105618023 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105587643-106560949)x3 copy number gain See cases [RCV000512193] Chr14:105587643..106560949 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105080065-106067618)x1 copy number loss not provided [RCV000738611] Chr14:105080065..106067618 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.33(chr14:105436222-107287663)x3 copy number gain not provided [RCV000751145] Chr14:105436222..107287663 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_002226.5(JAG2):c.1758C>G (p.Ile586Met) single nucleotide variant not specified [RCV004291349] Chr14:105149085 [GRCh38]
Chr14:105615422 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1545C>T (p.Asp515=) single nucleotide variant JAG2-related disorder [RCV003918404]|not provided [RCV000969288] Chr14:105150661 [GRCh38]
Chr14:105616998 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2523G>A (p.Thr841=) single nucleotide variant not provided [RCV000901421] Chr14:105146681 [GRCh38]
Chr14:105613018 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.3369C>T (p.Ser1123=) single nucleotide variant not provided [RCV000902885] Chr14:105143043 [GRCh38]
Chr14:105609380 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.3703G>A (p.Ala1235Thr) single nucleotide variant JAG2-related disorder [RCV003975718]|not provided [RCV000899970] Chr14:105142709 [GRCh38]
Chr14:105609046 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2851G>A (p.Ala951Thr) single nucleotide variant not provided [RCV000969651] Chr14:105145832 [GRCh38]
Chr14:105612169 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.306C>T (p.Ser102=) single nucleotide variant JAG2-related disorder [RCV003920667]|not provided [RCV000886845] Chr14:105167868 [GRCh38]
Chr14:105634205 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.3219T>G (p.Val1073=) single nucleotide variant JAG2-related disorder [RCV003936039]|not provided [RCV000967340] Chr14:105143504 [GRCh38]
Chr14:105609841 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_002226.5(JAG2):c.2781G>A (p.Gly927=) single nucleotide variant not provided [RCV000918619] Chr14:105145902 [GRCh38]
Chr14:105612239 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3390G>A (p.Pro1130=) single nucleotide variant JAG2-related disorder [RCV003978360]|not provided [RCV000960682] Chr14:105143022 [GRCh38]
Chr14:105609359 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.1107C>T (p.Phe369=) single nucleotide variant JAG2-related disorder [RCV003968042]|not provided [RCV000885677] Chr14:105151672 [GRCh38]
Chr14:105618009 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.3349C>T (p.Arg1117Trp) single nucleotide variant not provided [RCV000949582] Chr14:105143063 [GRCh38]
Chr14:105609400 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3224C>T (p.Thr1075Met) single nucleotide variant JAG2-related disorder [RCV003905994]|not provided [RCV000970504] Chr14:105143499 [GRCh38]
Chr14:105609836 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2884C>T (p.Arg962Cys) single nucleotide variant not specified [RCV004300127] Chr14:105145799 [GRCh38]
Chr14:105612136 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33		 likely pathogenic
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1 copy number loss not provided [RCV000848291] Chr14:105067651..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.33(chr14:105500759-106044679)x3 copy number gain not provided [RCV000848104] Chr14:105500759..106044679 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1 copy number loss not provided [RCV001006659] Chr14:104764078..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33		 pathogenic
NM_002226.5(JAG2):c.2101G>C (p.Asp701His) single nucleotide variant not specified [RCV004322289] Chr14:105148359 [GRCh38]
Chr14:105614696 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2209G>A (p.Ala737Thr) single nucleotide variant not specified [RCV004287704] Chr14:105148155 [GRCh38]
Chr14:105614492 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_105452081)_(105644072_?)del deletion not provided [RCV003107610] Chr14:105452081..105644072 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_002226.5(JAG2):c.1721C>T (p.Pro574Leu) single nucleotide variant not specified [RCV004293844] Chr14:105149202 [GRCh38]
Chr14:105615539 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1040-4A>G single nucleotide variant not provided [RCV000944635] Chr14:105151743 [GRCh38]
Chr14:105618080 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3132C>T (p.Gly1044=) single nucleotide variant JAG2-related disorder [RCV003930644]|not provided [RCV000885401] Chr14:105143591 [GRCh38]
Chr14:105609928 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2850C>T (p.Gly950=) single nucleotide variant JAG2-related disorder [RCV003923248]|not provided [RCV000917367] Chr14:105145833 [GRCh38]
Chr14:105612170 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3291G>A (p.Ala1097=) single nucleotide variant not provided [RCV000931041] Chr14:105143121 [GRCh38]
Chr14:105609458 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.890C>T (p.Thr297Ile) single nucleotide variant JAG2-related disorder [RCV003928577]|not provided [RCV000974121] Chr14:105152190 [GRCh38]
Chr14:105618527 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.1746C>T (p.Ala582=) single nucleotide variant not provided [RCV000908747] Chr14:105149177 [GRCh38]
Chr14:105615514 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2337C>T (p.Asp779=) single nucleotide variant JAG2-related disorder [RCV003930681]|not provided [RCV000886920] Chr14:105147800 [GRCh38]
Chr14:105614137 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_002226.5(JAG2):c.3153C>T (p.Ala1051=) single nucleotide variant not provided [RCV000933396] Chr14:105143570 [GRCh38]
Chr14:105609907 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2100C>T (p.Cys700=) single nucleotide variant not provided [RCV000962352] Chr14:105148360 [GRCh38]
Chr14:105614697 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2763C>T (p.Ser921=) single nucleotide variant JAG2-related disorder [RCV003935854]|not provided [RCV000955487] Chr14:105145920 [GRCh38]
Chr14:105612257 [GRCh37]
Chr14:14q32.33		 benign|likely benign
NM_002226.5(JAG2):c.645C>T (p.Asn215=) single nucleotide variant JAG2-related disorder [RCV003930794]|not provided [RCV000891113] Chr14:105155820 [GRCh38]
Chr14:105622157 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.1572C>T (p.Cys524=) single nucleotide variant not provided [RCV000913731] Chr14:105150634 [GRCh38]
Chr14:105616971 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731212] Chr14:105155622 [GRCh38]
Chr14:105621959 [GRCh37]
Chr14:14q32.33		 pathogenic|uncertain significance
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731214]|not provided [RCV001753912] Chr14:105146689 [GRCh38]
Chr14:105613026 [GRCh37]
Chr14:14q32.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002226.5(JAG2):c.1399G>A (p.Gly467Arg) single nucleotide variant not provided [RCV004819185] Chr14:105150894 [GRCh38]
Chr14:105617231 [GRCh37]		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1 copy number loss not provided [RCV001006660] Chr14:105303584..107285437 [GRCh37]
Chr14:14q32.33		 pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33		 uncertain significance
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731216] Chr14:105148416 [GRCh38]
Chr14:105614753 [GRCh37]
Chr14:14q32.33		 pathogenic|uncertain significance
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731215]|not provided [RCV004591559] Chr14:105167953 [GRCh38]
Chr14:105634290 [GRCh37]
Chr14:14q32.33		 pathogenic|likely pathogenic|uncertain significance
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731213] Chr14:105155975 [GRCh38]
Chr14:105622312 [GRCh37]
Chr14:14q32.33		 pathogenic|uncertain significance
NM_002226.5(JAG2):c.1975C>T (p.Arg659Cys) single nucleotide variant not provided [RCV001754096] Chr14:105148790 [GRCh38]
Chr14:105615127 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3414T>C (p.Ile1138=) single nucleotide variant not provided [RCV001733345] Chr14:105142998 [GRCh38]
Chr14:105609335 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2093G>C (p.Cys698Ser) single nucleotide variant not provided [RCV001763489] Chr14:105148367 [GRCh38]
Chr14:105614704 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_002226.5(JAG2):c.841G>T (p.Gly281Cys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002074460] Chr14:105152239 [GRCh38]
Chr14:105618576 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs) deletion Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002074459] Chr14:105151325..105151331 [GRCh38]
Chr14:105617662..105617668 [GRCh37]
Chr14:14q32.33		 pathogenic
NM_002226.5(JAG2):c.2473C>T (p.Arg825Cys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223153] Chr14:105147332 [GRCh38]
Chr14:105613669 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2930T>C (p.Phe977Ser) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223154] Chr14:105145753 [GRCh38]
Chr14:105612090 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.283A>G (p.Thr95Ala) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223155] Chr14:105167891 [GRCh38]
Chr14:105634228 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.493C>T (p.Arg165Ter) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223156] Chr14:105155972 [GRCh38]
Chr14:105622309 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_002226.5(JAG2):c.1073A>T (p.Asn358Ile) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223157] Chr14:105151706 [GRCh38]
Chr14:105618043 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2134C>T (p.Arg712Cys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223158] Chr14:105148326 [GRCh38]
Chr14:105614663 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_105167703)_(105861009_?)del deletion Focal segmental glomerulosclerosis 5 [RCV003111501] Chr14:105167703..105861009 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33		 pathogenic
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002466862] Chr14:105147829 [GRCh38]
Chr14:105614166 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3520G>A (p.Val1174Ile) single nucleotide variant not provided [RCV003480102] Chr14:105142892 [GRCh38]
Chr14:105609229 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.175G>C (p.Ala59Pro) single nucleotide variant not specified [RCV004222857] Chr14:105167999 [GRCh38]
Chr14:105634336 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.364G>A (p.Gly122Ser) single nucleotide variant not specified [RCV004196622] Chr14:105167810 [GRCh38]
Chr14:105634147 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3561G>C (p.Glu1187Asp) single nucleotide variant not specified [RCV004155083] Chr14:105142851 [GRCh38]
Chr14:105609188 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.670G>A (p.Asp224Asn) single nucleotide variant not specified [RCV004141435] Chr14:105155795 [GRCh38]
Chr14:105622132 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1352C>T (p.Pro451Leu) single nucleotide variant not specified [RCV004135800] Chr14:105151020 [GRCh38]
Chr14:105617357 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2936G>A (p.Arg979His) single nucleotide variant not specified [RCV004200305] Chr14:105145747 [GRCh38]
Chr14:105612084 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.22C>T (p.Arg8Cys) single nucleotide variant not specified [RCV004204342] Chr14:105168399 [GRCh38]
Chr14:105634736 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2485G>A (p.Asp829Asn) single nucleotide variant not specified [RCV004098150] Chr14:105146719 [GRCh38]
Chr14:105613056 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2422G>A (p.Val808Ile) single nucleotide variant not specified [RCV004108413] Chr14:105147383 [GRCh38]
Chr14:105613720 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2944G>A (p.Val982Met) single nucleotide variant not specified [RCV004210496] Chr14:105145739 [GRCh38]
Chr14:105612076 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1741G>A (p.Gly581Arg) single nucleotide variant not specified [RCV004194753] Chr14:105149182 [GRCh38]
Chr14:105615519 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2057G>A (p.Arg686His) single nucleotide variant not specified [RCV004238094] Chr14:105148403 [GRCh38]
Chr14:105614740 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2633C>T (p.Pro878Leu) single nucleotide variant not specified [RCV004088338] Chr14:105146461 [GRCh38]
Chr14:105612798 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3467C>T (p.Pro1156Leu) single nucleotide variant not specified [RCV004117542] Chr14:105142945 [GRCh38]
Chr14:105609282 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.989A>G (p.Gln330Arg) single nucleotide variant not specified [RCV004150593] Chr14:105151988 [GRCh38]
Chr14:105618325 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3538G>A (p.Asp1180Asn) single nucleotide variant not specified [RCV004183109] Chr14:105142874 [GRCh38]
Chr14:105609211 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3514G>A (p.Ala1172Thr) single nucleotide variant not specified [RCV004201063] Chr14:105142898 [GRCh38]
Chr14:105609235 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2833G>A (p.Ala945Thr) single nucleotide variant not specified [RCV004159309] Chr14:105145850 [GRCh38]
Chr14:105612187 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3329G>A (p.Arg1110Lys) single nucleotide variant not specified [RCV004122380] Chr14:105143083 [GRCh38]
Chr14:105609420 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2101G>A (p.Asp701Asn) single nucleotide variant not specified [RCV004193350] Chr14:105148359 [GRCh38]
Chr14:105614696 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1552G>A (p.Asp518Asn) single nucleotide variant not specified [RCV004210019] Chr14:105150654 [GRCh38]
Chr14:105616991 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3389C>T (p.Pro1130Leu) single nucleotide variant not provided [RCV004790429]|not specified [RCV004154603] Chr14:105143023 [GRCh38]
Chr14:105609360 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2627G>A (p.Gly876Asp) single nucleotide variant not specified [RCV004168695] Chr14:105146467 [GRCh38]
Chr14:105612804 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3056C>T (p.Ser1019Leu) single nucleotide variant not specified [RCV004196184] Chr14:105144958 [GRCh38]
Chr14:105611295 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1012G>A (p.Gly338Ser) single nucleotide variant not specified [RCV004198613] Chr14:105151965 [GRCh38]
Chr14:105618302 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.182G>C (p.Gly61Ala) single nucleotide variant not specified [RCV004176011] Chr14:105167992 [GRCh38]
Chr14:105634329 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2968G>A (p.Ala990Thr) single nucleotide variant not specified [RCV004213240] Chr14:105145046 [GRCh38]
Chr14:105611383 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1097C>T (p.Pro366Leu) single nucleotide variant not specified [RCV004113212] Chr14:105151682 [GRCh38]
Chr14:105618019 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1783C>T (p.Pro595Ser) single nucleotide variant not specified [RCV004230549] Chr14:105149060 [GRCh38]
Chr14:105615397 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2926C>T (p.His976Tyr) single nucleotide variant not specified [RCV004118560] Chr14:105145757 [GRCh38]
Chr14:105612094 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1478G>A (p.Arg493Gln) single nucleotide variant not specified [RCV004133279] Chr14:105150728 [GRCh38]
Chr14:105617065 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2980G>A (p.Gly994Arg) single nucleotide variant not specified [RCV004219358] Chr14:105145034 [GRCh38]
Chr14:105611371 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3605C>T (p.Thr1202Ile) single nucleotide variant not specified [RCV004070921] Chr14:105142807 [GRCh38]
Chr14:105609144 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1435G>A (p.Val479Met) single nucleotide variant not specified [RCV004179414] Chr14:105150771 [GRCh38]
Chr14:105617108 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1001C>G (p.Thr334Ser) single nucleotide variant not specified [RCV004185072] Chr14:105151976 [GRCh38]
Chr14:105618313 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1400G>A (p.Gly467Glu) single nucleotide variant not specified [RCV004218426] Chr14:105150893 [GRCh38]
Chr14:105617230 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.847G>C (p.Val283Leu) single nucleotide variant not specified [RCV004175610] Chr14:105152233 [GRCh38]
Chr14:105618570 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3503C>T (p.Pro1168Leu) single nucleotide variant not specified [RCV004228407] Chr14:105142909 [GRCh38]
Chr14:105609246 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1594C>T (p.Leu532Phe) single nucleotide variant not specified [RCV004256342] Chr14:105150612 [GRCh38]
Chr14:105616949 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2333G>A (p.Arg778Gln) single nucleotide variant not specified [RCV004261202] Chr14:105147804 [GRCh38]
Chr14:105614141 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1811G>A (p.Gly604Asp) single nucleotide variant not specified [RCV004260059] Chr14:105149032 [GRCh38]
Chr14:105615369 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.181G>A (p.Gly61Ser) single nucleotide variant not specified [RCV004275219] Chr14:105167993 [GRCh38]
Chr14:105634330 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3113A>G (p.Asp1038Gly) single nucleotide variant not specified [RCV004259093] Chr14:105143610 [GRCh38]
Chr14:105609947 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.847G>A (p.Val283Met) single nucleotide variant not specified [RCV004251996] Chr14:105152233 [GRCh38]
Chr14:105618570 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3475C>T (p.Arg1159Cys) single nucleotide variant not specified [RCV004260251] Chr14:105142937 [GRCh38]
Chr14:105609274 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3439G>A (p.Val1147Met) single nucleotide variant not specified [RCV004263029] Chr14:105142973 [GRCh38]
Chr14:105609310 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33		 pathogenic
NM_002226.5(JAG2):c.1019C>T (p.Ser340Leu) single nucleotide variant not specified [RCV004299986] Chr14:105151958 [GRCh38]
Chr14:105618295 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1726G>A (p.Glu576Lys) single nucleotide variant not specified [RCV004316502] Chr14:105149197 [GRCh38]
Chr14:105615534 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33		 pathogenic
NM_002226.5(JAG2):c.2885G>A (p.Arg962His) single nucleotide variant not specified [RCV004345037] Chr14:105145798 [GRCh38]
Chr14:105612135 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3514G>T (p.Ala1172Ser) single nucleotide variant not specified [RCV004343829] Chr14:105142898 [GRCh38]
Chr14:105609235 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.206C>T (p.Thr69Met) single nucleotide variant not specified [RCV004348099] Chr14:105167968 [GRCh38]
Chr14:105634305 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3095C>T (p.Pro1032Leu) single nucleotide variant not specified [RCV004344610] Chr14:105143628 [GRCh38]
Chr14:105609965 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33		 pathogenic
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3 copy number gain not provided [RCV003485055] Chr14:105122914..107285437 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3307G>T (p.Val1103Leu) single nucleotide variant JAG2-related disorder [RCV003391379] Chr14:105143105 [GRCh38]
Chr14:105609442 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_002226.5(JAG2):c.3591C>T (p.Leu1197=) single nucleotide variant not provided [RCV003426407] Chr14:105142821 [GRCh38]
Chr14:105609158 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2388G>T (p.Leu796=) single nucleotide variant not provided [RCV003426409] Chr14:105147505 [GRCh38]
Chr14:105613842 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.642C>T (p.Arg214=) single nucleotide variant JAG2-related disorder [RCV003929053]|not provided [RCV003426412] Chr14:105155823 [GRCh38]
Chr14:105622160 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.470C>T (p.Pro157Leu) single nucleotide variant not provided [RCV003480103] Chr14:105157711 [GRCh38]
Chr14:105624048 [GRCh37]
Chr14:14q32.33		 uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33		 pathogenic
NM_002226.5(JAG2):c.2253G>A (p.Lys751=) single nucleotide variant not provided [RCV003426410] Chr14:105147884 [GRCh38]
Chr14:105614221 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3471G>A (p.Pro1157=) single nucleotide variant JAG2-related disorder [RCV003906751]|not provided [RCV003426408] Chr14:105142941 [GRCh38]
Chr14:105609278 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1588G>C (p.Gly530Arg) single nucleotide variant JAG2-related disorder [RCV003400095] Chr14:105150618 [GRCh38]
Chr14:105616955 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2935C>T (p.Arg979Cys) single nucleotide variant JAG2-related disorder [RCV003414584]|not provided [RCV004763679]|not specified [RCV004362828] Chr14:105145748 [GRCh38]
Chr14:105612085 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1836C>T (p.Cys612=) single nucleotide variant not provided [RCV003426411] Chr14:105149007 [GRCh38]
Chr14:105615344 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1429-6G>A single nucleotide variant JAG2-related disorder [RCV003939441] Chr14:105150783 [GRCh38]
Chr14:105617120 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_002226.5(JAG2):c.*4C>T single nucleotide variant JAG2-related disorder [RCV003911604] Chr14:105142691 [GRCh38]
Chr14:105609028 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.312C>A (p.Tyr104Ter) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV003989928] Chr14:105167862 [GRCh38]
Chr14:105634199 [GRCh37]
Chr14:14q32.33		 likely pathogenic
NM_002226.5(JAG2):c.1101C>T (p.Ser367=) single nucleotide variant JAG2-related disorder [RCV003894548] Chr14:105151678 [GRCh38]
Chr14:105618015 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.390C>T (p.Val130=) single nucleotide variant JAG2-related disorder [RCV003917002] Chr14:105167784 [GRCh38]
Chr14:105634121 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.703T>C (p.Trp235Arg) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004544235] Chr14:105155762 [GRCh38]
Chr14:105622099 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2028C>T (p.Asn676=) single nucleotide variant JAG2-related disorder [RCV003949409] Chr14:105148432 [GRCh38]
Chr14:105614769 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1821C>T (p.Gly607=) single nucleotide variant JAG2-related disorder [RCV003957376] Chr14:105149022 [GRCh38]
Chr14:105615359 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2434C>T (p.Arg812Cys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV003991922] Chr14:105147371 [GRCh38]
Chr14:105613708 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3706G>A (p.Gly1236Ser) single nucleotide variant JAG2-related disorder [RCV003926812] Chr14:105142706 [GRCh38]
Chr14:105609043 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1021G>T (p.Gly341Cys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004544234] Chr14:105151956 [GRCh38]
Chr14:105618293 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1489C>T (p.Leu497=) single nucleotide variant JAG2-related disorder [RCV003896653] Chr14:105150717 [GRCh38]
Chr14:105617054 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1812C>T (p.Gly604=) single nucleotide variant JAG2-related disorder [RCV003959405] Chr14:105149031 [GRCh38]
Chr14:105615368 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2889C>T (p.Ser963=) single nucleotide variant JAG2-related disorder [RCV003959464] Chr14:105145794 [GRCh38]
Chr14:105612131 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.522G>A (p.Pro174=) single nucleotide variant JAG2-related disorder [RCV003959559]|not provided [RCV004721794] Chr14:105155943 [GRCh38]
Chr14:105622280 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3635C>T (p.Pro1212Leu) single nucleotide variant JAG2-related disorder [RCV003921508] Chr14:105142777 [GRCh38]
Chr14:105609114 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2459C>T (p.Ala820Val) single nucleotide variant JAG2-related disorder [RCV003931581]|not provided [RCV004790643] Chr14:105147346 [GRCh38]
Chr14:105613683 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_002226.5(JAG2):c.3156C>T (p.Ala1052=) single nucleotide variant JAG2-related disorder [RCV003961707] Chr14:105143567 [GRCh38]
Chr14:105609904 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2013C>T (p.Cys671=) single nucleotide variant JAG2-related disorder [RCV003971667] Chr14:105148752 [GRCh38]
Chr14:105615089 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.189C>T (p.Gly63=) single nucleotide variant JAG2-related disorder [RCV003944077] Chr14:105167985 [GRCh38]
Chr14:105634322 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2952+6G>A single nucleotide variant JAG2-related disorder [RCV003957375] Chr14:105145725 [GRCh38]
Chr14:105612062 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2923T>C (p.Leu975=) single nucleotide variant JAG2-related disorder [RCV003961683] Chr14:105145760 [GRCh38]
Chr14:105612097 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3423G>A (p.Pro1141=) single nucleotide variant JAG2-related disorder [RCV003927166] Chr14:105142989 [GRCh38]
Chr14:105609326 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1956C>T (p.Ile652=) single nucleotide variant JAG2-related disorder [RCV003932097] Chr14:105148809 [GRCh38]
Chr14:105615146 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.612C>T (p.Ser204=) single nucleotide variant JAG2-related disorder [RCV003964236] Chr14:105155853 [GRCh38]
Chr14:105622190 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1382-6C>T single nucleotide variant JAG2-related disorder [RCV003933977] Chr14:105150917 [GRCh38]
Chr14:105617254 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2249-21CTC[3] microsatellite JAG2-related disorder [RCV003934087] Chr14:105147898..105147900 [GRCh38]
Chr14:105614235..105614237 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3468G>A (p.Pro1156=) single nucleotide variant JAG2-related disorder [RCV003974288] Chr14:105142944 [GRCh38]
Chr14:105609281 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2350C>T (p.Arg784Cys) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004544236] Chr14:105147787 [GRCh38]
Chr14:105614124 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1551C>T (p.Ala517=) single nucleotide variant JAG2-related disorder [RCV003934159] Chr14:105150655 [GRCh38]
Chr14:105616992 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2249-8C>A single nucleotide variant JAG2-related disorder [RCV003904510] Chr14:105147896 [GRCh38]
Chr14:105614233 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2593+9C>G single nucleotide variant JAG2-related disorder [RCV003894180] Chr14:105146602 [GRCh38]
Chr14:105612939 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3046C>T (p.Arg1016Trp) single nucleotide variant not specified [RCV003988482] Chr14:105144968 [GRCh38]
Chr14:105611305 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1603-7C>T single nucleotide variant JAG2-related disorder [RCV003924078] Chr14:105149327 [GRCh38]
Chr14:105615664 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.-7G>A single nucleotide variant JAG2-related disorder [RCV003971765] Chr14:105168427 [GRCh38]
Chr14:105634764 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1429-7C>T single nucleotide variant JAG2-related disorder [RCV003947091] Chr14:105150784 [GRCh38]
Chr14:105617121 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2623C>T (p.Arg875Trp) single nucleotide variant JAG2-related disorder [RCV003944394]|not specified [RCV004369842] Chr14:105146471 [GRCh38]
Chr14:105612808 [GRCh37]
Chr14:14q32.33		 likely benign|uncertain significance
NM_002226.5(JAG2):c.3639C>T (p.Ala1213=) single nucleotide variant JAG2-related disorder [RCV003901735] Chr14:105142773 [GRCh38]
Chr14:105609110 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.3636G>A (p.Pro1212=) single nucleotide variant JAG2-related disorder [RCV003906869] Chr14:105142776 [GRCh38]
Chr14:105609113 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2365+6T>C single nucleotide variant JAG2-related disorder [RCV003941957] Chr14:105147766 [GRCh38]
Chr14:105614103 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.3050C>T (p.Ala1017Val) single nucleotide variant JAG2-related disorder [RCV003949472] Chr14:105144964 [GRCh38]
Chr14:105611301 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.1753+8G>A single nucleotide variant JAG2-related disorder [RCV003957045] Chr14:105149162 [GRCh38]
Chr14:105615499 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.900C>T (p.Gly300=) single nucleotide variant JAG2-related disorder [RCV003914324] Chr14:105152180 [GRCh38]
Chr14:105618517 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.402C>T (p.Phe134=) single nucleotide variant JAG2-related disorder [RCV003967096] Chr14:105167772 [GRCh38]
Chr14:105634109 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2063G>A (p.Arg688His) single nucleotide variant JAG2-related disorder [RCV003979871] Chr14:105148397 [GRCh38]
Chr14:105614734 [GRCh37]
Chr14:14q32.33		 benign
NM_002226.5(JAG2):c.2394-6C>T single nucleotide variant JAG2-related disorder [RCV003909586] Chr14:105147417 [GRCh38]
Chr14:105613754 [GRCh37]
Chr14:14q32.33		 likely benign
GRCh37/hg19 14q32.33(chr14:105516659-107284437)x3 copy number gain See cases [RCV004442767] Chr14:105516659..107284437 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3424G>A (p.Gly1142Arg) single nucleotide variant JAG2-related disorder [RCV003903961] Chr14:105142988 [GRCh38]
Chr14:105609325 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2502G>A (p.Ser834=) single nucleotide variant JAG2-related disorder [RCV003976411] Chr14:105146702 [GRCh38]
Chr14:105613039 [GRCh37]
Chr14:14q32.33		 benign
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33		 pathogenic
NM_002226.5(JAG2):c.1831C>T (p.Arg611Cys) single nucleotide variant not specified [RCV004401046] Chr14:105149012 [GRCh38]
Chr14:105615349 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2198C>T (p.Thr733Ile) single nucleotide variant not specified [RCV004401047] Chr14:105148166 [GRCh38]
Chr14:105614503 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2245G>A (p.Val749Ile) single nucleotide variant not specified [RCV004401048] Chr14:105148119 [GRCh38]
Chr14:105614456 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2351G>A (p.Arg784His) single nucleotide variant not specified [RCV004401049] Chr14:105147786 [GRCh38]
Chr14:105614123 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2469C>G (p.Asp823Glu) single nucleotide variant not specified [RCV004401050] Chr14:105147336 [GRCh38]
Chr14:105613673 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2522C>T (p.Thr841Met) single nucleotide variant not specified [RCV004401051] Chr14:105146682 [GRCh38]
Chr14:105613019 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2743G>A (p.Gly915Ser) single nucleotide variant not specified [RCV004401052] Chr14:105145940 [GRCh38]
Chr14:105612277 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2987G>A (p.Arg996His) single nucleotide variant not specified [RCV004401054] Chr14:105145027 [GRCh38]
Chr14:105611364 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3541G>A (p.Glu1181Lys) single nucleotide variant not specified [RCV004401059] Chr14:105142871 [GRCh38]
Chr14:105609208 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3620G>A (p.Arg1207His) single nucleotide variant not specified [RCV004401060] Chr14:105142792 [GRCh38]
Chr14:105609129 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3653G>T (p.Gly1218Val) single nucleotide variant not specified [RCV004401061] Chr14:105142759 [GRCh38]
Chr14:105609096 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3689A>G (p.Asn1230Ser) single nucleotide variant not specified [RCV004401062] Chr14:105142723 [GRCh38]
Chr14:105609060 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.820G>A (p.Asp274Asn) single nucleotide variant not specified [RCV004401064] Chr14:105152260 [GRCh38]
Chr14:105618597 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.873G>T (p.Trp291Cys) single nucleotide variant not specified [RCV004401065] Chr14:105152207 [GRCh38]
Chr14:105618544 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.965C>T (p.Thr322Met) single nucleotide variant not specified [RCV004401066] Chr14:105152012 [GRCh38]
Chr14:105618349 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.979G>A (p.Glu327Lys) single nucleotide variant not specified [RCV004401067] Chr14:105151998 [GRCh38]
Chr14:105618335 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1303G>A (p.Ala435Thr) single nucleotide variant not specified [RCV004401039] Chr14:105151069 [GRCh38]
Chr14:105617406 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1462C>T (p.Arg488Trp) single nucleotide variant not specified [RCV004401042] Chr14:105150744 [GRCh38]
Chr14:105617081 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1769G>A (p.Gly590Glu) single nucleotide variant not specified [RCV004401045] Chr14:105149074 [GRCh38]
Chr14:105615411 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.346C>G (p.Arg116Gly) single nucleotide variant not specified [RCV004401056] Chr14:105167828 [GRCh38]
Chr14:105634165 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1349T>C (p.Ile450Thr) single nucleotide variant not specified [RCV004401040] Chr14:105151023 [GRCh38]
Chr14:105617360 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1397G>A (p.Arg466His) single nucleotide variant not provided [RCV004818449]|not specified [RCV004401041] Chr14:105150896 [GRCh38]
Chr14:105617233 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1703G>A (p.Gly568Asp) single nucleotide variant not specified [RCV004401043] Chr14:105149220 [GRCh38]
Chr14:105615557 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.320C>G (p.Pro107Arg) single nucleotide variant not specified [RCV004401055] Chr14:105167854 [GRCh38]
Chr14:105634191 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3482C>T (p.Ala1161Val) single nucleotide variant not specified [RCV004401057] Chr14:105142930 [GRCh38]
Chr14:105609267 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3537G>C (p.Glu1179Asp) single nucleotide variant not specified [RCV004401058] Chr14:105142875 [GRCh38]
Chr14:105609212 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.463dup (p.Thr155fs) duplication not provided [RCV004592142] Chr14:105157717..105157718 [GRCh38]
Chr14:105624054..105624055 [GRCh37]
Chr14:14q32.33		 uncertain significance
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33		 uncertain significance
NM_002226.5(JAG2):c.3418C>T (p.Arg1140Trp) single nucleotide variant not specified [RCV004635701] Chr14:105142994 [GRCh38]
Chr14:105609331 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3002C>T (p.Thr1001Ile) single nucleotide variant not specified [RCV004635703] Chr14:105145012 [GRCh38]
Chr14:105611349 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1210G>A (p.Val404Met) single nucleotide variant not specified [RCV004635702] Chr14:105151340 [GRCh38]
Chr14:105617677 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1795G>A (p.Gly599Ser) single nucleotide variant not specified [RCV004635704] Chr14:105149048 [GRCh38]
Chr14:105615385 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1522C>T (p.His508Tyr) single nucleotide variant not specified [RCV004626513] Chr14:105150684 [GRCh38]
Chr14:105617021 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1515C>A (p.Ser505Arg) single nucleotide variant not specified [RCV004626514] Chr14:105150691 [GRCh38]
Chr14:105617028 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.359G>A (p.Arg120Gln) single nucleotide variant not specified [RCV004626515] Chr14:105167815 [GRCh38]
Chr14:105634152 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2561_2569del (p.Pro854_Gly856del) deletion Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004759755]   uncertain significance
NM_002226.5(JAG2):c.1064C>T (p.Pro355Leu) single nucleotide variant not provided [RCV004794050] Chr14:105151715 [GRCh38]
Chr14:105618052 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1636C>T (p.Arg546Trp) single nucleotide variant not provided [RCV004794048] Chr14:105149287 [GRCh38]
Chr14:105615624 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1793C>G (p.Pro598Arg) single nucleotide variant not provided [RCV004794047] Chr14:105149050 [GRCh38]
Chr14:105615387 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.2581C>G (p.Arg861Gly) single nucleotide variant not provided [RCV004794046] Chr14:105146623 [GRCh38]
Chr14:105612960 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3226G>A (p.Gly1076Ser) single nucleotide variant not provided [RCV004794045] Chr14:105143497 [GRCh38]
Chr14:105609834 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3358C>T (p.Arg1120Trp) single nucleotide variant not provided [RCV004794044] Chr14:105143054 [GRCh38]
Chr14:105609391 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.3607A>G (p.Lys1203Glu) single nucleotide variant not provided [RCV004794043] Chr14:105142805 [GRCh38]
Chr14:105609142 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.1683C>T (p.Ala561=) single nucleotide variant JAG2-related disorder [RCV004754127] Chr14:105149240 [GRCh38]
Chr14:105615577 [GRCh37]
Chr14:14q32.33		 likely benign
NM_002226.5(JAG2):c.2369C>G (p.Thr790Ser) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004771661] Chr14:105147524 [GRCh38]
Chr14:105613861 [GRCh37]
Chr14:14q32.33		 uncertain significance
NM_002226.5(JAG2):c.860G>A (p.Cys287Tyr) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004759756]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2956
Count of miRNA genes:941
Interacting mature miRNAs:1153
Transcripts:ENST00000331782, ENST00000347004, ENST00000546616, ENST00000553051, ENST00000553244
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

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2249 4973 1726 2351 6 624 1854 465 2270 7213 6379 51 3733 1 852 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA775404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF029779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI276672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ712299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX105691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN607838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000331782   ⟹   ENSP00000328169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,140,995 - 105,168,776 (-)Ensembl
Ensembl Acc Id: ENST00000347004   ⟹   ENSP00000328566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,140,982 - 105,168,824 (-)Ensembl
Ensembl Acc Id: ENST00000546616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,141,755 - 105,147,358 (-)Ensembl
Ensembl Acc Id: ENST00000553051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,151,640 - 105,157,809 (-)Ensembl
Ensembl Acc Id: ENST00000553244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14105,146,962 - 105,148,394 (-)Ensembl
RefSeq Acc Id: NM_002226   ⟹   NP_002217
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814105,140,995 - 105,168,776 (-)NCBI
GRCh3714105,607,318 - 105,635,161 (-)NCBI
Build 3614104,679,121 - 104,706,206 (-)NCBI Archive
HuRef1485,798,697 - 85,815,481 (-)NCBI
CHM1_114105,545,299 - 105,572,922 (-)NCBI
T2T-CHM13v2.01499,382,854 - 99,410,701 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145159   ⟹   NP_660142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814105,140,995 - 105,168,776 (-)NCBI
GRCh3714105,607,318 - 105,635,161 (-)NCBI
Build 3614104,679,121 - 104,706,206 (-)NCBI Archive
HuRef1485,798,697 - 85,815,481 (-)NCBI
CHM1_114105,545,299 - 105,572,922 (-)NCBI
T2T-CHM13v2.01499,382,854 - 99,410,701 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431352   ⟹   XP_047287308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814105,140,995 - 105,167,521 (-)NCBI
RefSeq Acc Id: XM_047431353   ⟹   XP_047287309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814105,140,995 - 105,167,312 (-)NCBI
RefSeq Acc Id: XM_047431354   ⟹   XP_047287310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814105,147,838 - 105,168,776 (-)NCBI
RefSeq Acc Id: XM_054376002   ⟹   XP_054231977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,382,854 - 99,409,446 (-)NCBI
RefSeq Acc Id: XM_054376003   ⟹   XP_054231978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,382,854 - 99,409,237 (-)NCBI
RefSeq Acc Id: XM_054376004   ⟹   XP_054231979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01499,389,698 - 99,410,701 (-)NCBI
RefSeq Acc Id: NP_660142   ⟸   NM_145159
- Peptide Label: isoform b precursor
- UniProtKB: Q9Y219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002217   ⟸   NM_002226
- Peptide Label: isoform a precursor
- UniProtKB: Q9Y6P9 (UniProtKB/Swiss-Prot),   Q9UNK8 (UniProtKB/Swiss-Prot),   Q9UE99 (UniProtKB/Swiss-Prot),   Q9UE17 (UniProtKB/Swiss-Prot),   Q9Y6Q0 (UniProtKB/Swiss-Prot),   Q9Y219 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000328169   ⟸   ENST00000331782
Ensembl Acc Id: ENSP00000328566   ⟸   ENST00000347004
RefSeq Acc Id: XP_047287308   ⟸   XM_047431352
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047287309   ⟸   XM_047431353
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047287310   ⟸   XM_047431354
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054231977   ⟸   XM_054376002
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054231978   ⟸   XM_054376003
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054231979   ⟸   XM_054376004
- Peptide Label: isoform X3
Protein Domains
DSL   EGF-like   VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y219-F1-model_v2 AlphaFold Q9Y219 1-1238 view protein structure

Promoters
RGD ID:6791683
Promoter ID:HG_KWN:20400
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:OTTHUMT00000276506,   OTTHUMT00000276507
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,705,906 - 104,706,652 (-)MPROMDB
RGD ID:7228785
Promoter ID:EPDNEW_H20138
Type:initiation region
Name:JAG2_1
Description:jagged 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814105,168,728 - 105,168,788EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6189 AgrOrtholog
COSMIC JAG2 COSMIC
Ensembl Genes ENSG00000184916 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000331782 ENTREZGENE
  ENST00000331782.8 UniProtKB/Swiss-Prot
  ENST00000347004 ENTREZGENE
  ENST00000347004.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.25.140 UniProtKB/Swiss-Prot
  2.60.40.3510 UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot
GTEx ENSG00000184916 GTEx
HGNC ID HGNC:6189 ENTREZGENE
Human Proteome Map JAG2 Human Proteome Map
InterPro DSL UniProtKB/Swiss-Prot
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot
  EGF-like_CS UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  Jagged/Serrate UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOTCH1_EGF-like UniProtKB/Swiss-Prot
  Notch_ligand_N UniProtKB/Swiss-Prot
  Notch_signaling UniProtKB/Swiss-Prot
  VWF_dom UniProtKB/Swiss-Prot
KEGG Report hsa:3714 UniProtKB/Swiss-Prot
NCBI Gene 3714 ENTREZGENE
OMIM 602570 OMIM
PANTHER NOTCH LIGAND FAMILY MEMBER UniProtKB/Swiss-Prot
  PROTEIN JAGGED-2 UniProtKB/Swiss-Prot
Pfam DL-JAG_EGF-like UniProtKB/Swiss-Prot
  DSL UniProtKB/Swiss-Prot
  EGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  hEGF UniProtKB/Swiss-Prot
  MNNL UniProtKB/Swiss-Prot
PharmGKB PA29987 PharmGKB
PRINTS EGFBLOOD UniProtKB/Swiss-Prot
  JAGGEDFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  DSL UniProtKB/Swiss-Prot
  EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  VWFC_2 UniProtKB/Swiss-Prot
SMART DSL UniProtKB/Swiss-Prot
  EGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot
  VWC_out UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
  SSF57184 UniProtKB/Swiss-Prot
UniProt A0A0B6XK26_HUMAN UniProtKB/TrEMBL
  JAG2_HUMAN UniProtKB/Swiss-Prot
  Q9UE17 ENTREZGENE
  Q9UE99 ENTREZGENE
  Q9UNK8 ENTREZGENE
  Q9Y219 ENTREZGENE
  Q9Y6P9 ENTREZGENE
  Q9Y6Q0 ENTREZGENE
UniProt Secondary Q9UE17 UniProtKB/Swiss-Prot
  Q9UE99 UniProtKB/Swiss-Prot
  Q9UNK8 UniProtKB/Swiss-Prot
  Q9Y6P9 UniProtKB/Swiss-Prot
  Q9Y6Q0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-08 JAG2  jagged canonical Notch ligand 2  JAG2  jagged 2  Symbol and/or name change 5135510 APPROVED