GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)) - Rat Genome Database

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Gene: GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)) Homo sapiens
Analyze
Symbol: GCNT2
Name: glucosaminyl (N-acetyl) transferase 2 (I blood group)
RGD ID: 1607088
HGNC Page HGNC:4204
Description: Enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity. Involved in several processes, including maintenance of lens transparency; positive regulation of intracellular signal transduction; and transforming growth factor beta receptor signaling pathway. Located in Golgi apparatus. Implicated in cataract and cataract 13 with adult i phenotype.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA360O19.2; bA421M1.1; beta-1,6-N-acetylglucosaminyltransferase 2; cataract, congenital; CCAT; CTRCT13; GCNT2C; GCNT5; glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group); I beta-1,6-N-acetylglucosaminyltransferase; I-branching beta-1,6-acetylglucosaminyltransferase; I-branching enzyme; IGNT; II; Ii blood group; MGC163396; N-acetylglucosaminyltransferase; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase; NACGT1; NAGCT1; ULG3
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL139039.1   GCNT2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38610,521,351 - 10,629,368 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl610,492,223 - 10,629,368 (+)EnsemblGRCh38hg38GRCh38
GRCh37610,521,584 - 10,629,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36610,636,697 - 10,737,587 (+)NCBINCBI36Build 36hg18NCBI36
Celera611,750,073 - 11,858,098 (+)NCBICelera
Cytogenetic Map6p24.3-p24.2NCBI
HuRef610,397,294 - 10,505,347 (+)NCBIHuRef
CHM1_1610,523,710 - 10,631,709 (+)NCBICHM1_1
T2T-CHM13v2.0610,389,059 - 10,497,066 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
amphetamine  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
bucladesine  (EXP)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
diazinon  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
emodin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fentin chloride  (ISO)
formaldehyde  (EXP)
furan  (ISO)
glafenine  (ISO)
glycidol  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
kainic acid  (ISO)
medroxyprogesterone acetate  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
morphine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (ISO)
valproic acid  (EXP)
vanadyl sulfate  (EXP)
vorinostat  (EXP)
zaragozic acid A  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Golgi apparatus  (IDA,IEA)
Golgi membrane  (IEA)
membrane  (IEA,TAS)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Pras E, etal., Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1940-5.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:438154   PMID:2791656   PMID:7579796   PMID:8449405   PMID:9134435   PMID:9405606   PMID:9417921   PMID:9915862   PMID:11739194   PMID:12244172   PMID:12424189   PMID:12468428  
PMID:12477932   PMID:14672974   PMID:14702039   PMID:15489334   PMID:15882971   PMID:16344560   PMID:17855628   PMID:21541272   PMID:21750175   PMID:21761136   PMID:21873635   PMID:24244333  
PMID:25750292   PMID:26186194   PMID:26678556   PMID:26760575   PMID:27936067   PMID:28319085   PMID:28514442   PMID:28542779   PMID:29117863   PMID:30575058   PMID:31213534   PMID:32296183  
PMID:33660254   PMID:33961781  


Genomics

Comparative Map Data
GCNT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38610,521,351 - 10,629,368 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl610,492,223 - 10,629,368 (+)EnsemblGRCh38hg38GRCh38
GRCh37610,521,584 - 10,629,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36610,636,697 - 10,737,587 (+)NCBINCBI36Build 36hg18NCBI36
Celera611,750,073 - 11,858,098 (+)NCBICelera
Cytogenetic Map6p24.3-p24.2NCBI
HuRef610,397,294 - 10,505,347 (+)NCBIHuRef
CHM1_1610,523,710 - 10,631,709 (+)NCBICHM1_1
T2T-CHM13v2.0610,389,059 - 10,497,066 (+)NCBIT2T-CHM13v2.0
Gcnt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391341,013,417 - 41,114,368 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1341,013,230 - 41,114,368 (+)EnsemblGRCm39 Ensembl
GRCm381340,859,768 - 40,960,892 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1340,859,754 - 40,960,892 (+)EnsemblGRCm38mm10GRCm38
MGSCv371340,955,501 - 41,056,261 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361340,871,106 - 40,971,866 (+)NCBIMGSCv36mm8
Celera1341,943,688 - 42,044,977 (+)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1320.12NCBI
Gcnt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81724,002,592 - 24,107,339 (-)NCBIGRCr8
mRatBN7.21723,796,859 - 23,901,625 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1723,796,859 - 23,901,611 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1723,666,867 - 23,737,375 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01725,270,336 - 25,340,857 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01723,607,833 - 23,678,356 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01721,634,546 - 21,677,477 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1721,634,551 - 21,739,408 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01723,615,668 - 23,657,985 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01723,685,139 - 23,686,828 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41729,767,383 - 29,808,950 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11729,770,228 - 29,811,631 (-)NCBI
Celera1723,466,366 - 23,508,072 (-)NCBICelera
Cytogenetic Map17p12NCBI
GCNT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2525,173,692 - 25,279,093 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1621,163,078 - 21,268,776 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0610,357,919 - 10,470,512 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1610,638,833 - 10,750,975 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl610,626,891 - 10,750,975 (+)Ensemblpanpan1.1panPan2
GCNT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13510,304,741 - 10,387,746 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3510,305,350 - 10,385,672 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3510,253,572 - 10,336,564 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03510,408,935 - 10,491,996 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3510,409,093 - 10,491,994 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13510,263,504 - 10,321,630 (+)NCBIUMICH_Zoey_3.1
UMICH_Zoey_3.13510,238,491 - 10,252,850 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03510,279,205 - 10,368,498 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03511,605,949 - 11,688,956 (+)NCBIUU_Cfam_GSD_1.0
LOC101978685
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494614,040,501 - 14,097,520 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365342,309,480 - 2,388,249 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365342,311,217 - 2,366,327 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100152566
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl77,328,214 - 7,422,197 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.177,382,731 - 7,422,199 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.277,640,231 - 7,731,681 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GCNT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11761,533,622 - 61,607,702 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1761,533,314 - 61,642,659 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604410,540,562 - 10,642,529 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gcnt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475615,257,623 - 15,313,668 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475615,231,222 - 15,342,469 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GCNT2
168 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001491.2(GCNT2):c.-117_*41del deletion Cataract 13 with adult I phenotype [RCV000009701] Chr6:6p24-p23 pathogenic
NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu) single nucleotide variant Cataract 13 with adult I phenotype [RCV000009699] Chr6:10626447 [GRCh38]
Chr6:10626680 [GRCh37]
Chr6:6p24.2		 pathogenic
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) single nucleotide variant Cataract 13 with adult I phenotype [RCV000009700] Chr6:10626552 [GRCh38]
Chr6:10626785 [GRCh37]
Chr6:6p24.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_145649.5(GCNT2):c.505G>A (p.Ala169Thr) single nucleotide variant ADULT i BLOOD GROUP PHENOTYPE [RCV000009702] Chr6:10529416 [GRCh38]
Chr6:10529649 [GRCh37]
Chr6:6p24.3		 pathogenic
NM_145649.5(GCNT2):c.683G>A (p.Arg228Gln) single nucleotide variant ADULT i BLOOD GROUP PHENOTYPE [RCV000009703] Chr6:10529594 [GRCh38]
Chr6:10529827 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) single nucleotide variant Cataract 13 with adult I phenotype [RCV003987415]|not provided [RCV000171391] Chr6:10626423 [GRCh38]
Chr6:10626656 [GRCh37]
Chr6:6p24.2		 likely pathogenic|uncertain significance|no classifications from unflagged records
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p24.3-24.2(chr6:10564018-10629482)x1 copy number loss See cases [RCV000135238] Chr6:10564018..10629482 [GRCh38]
Chr6:10564251..10629715 [GRCh37]
Chr6:10672237..10737701 [NCBI36]
Chr6:6p24.3-24.2		 likely benign
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p24.3-24.2(chr6:10542021-11058096)x1 copy number loss See cases [RCV000138314] Chr6:10542021..11058096 [GRCh38]
Chr6:10542254..11058329 [GRCh37]
Chr6:10650240..11166315 [NCBI36]
Chr6:6p24.3-24.2		 uncertain significance
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 copy number loss See cases [RCV000142410] Chr6:10601499..13987316 [GRCh38]
Chr6:10601732..13987547 [GRCh37]
Chr6:10709718..14095526 [NCBI36]
Chr6:6p24.2-23		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p24.3-24.2(chr6:10542021-10810835)x1 copy number loss See cases [RCV000143180] Chr6:10542021..10810835 [GRCh38]
Chr6:10542254..10811068 [GRCh37]
Chr6:10650240..10919054 [NCBI36]
Chr6:6p24.3-24.2		 uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p24.3-24.2(chr6:10490144-10724301)x1 copy number loss See cases [RCV000203421] Chr6:10490144..10724301 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
NM_145649.5(GCNT2):c.1185G>A (p.Ala395=) single nucleotide variant Blood group, I system [RCV000263227] Chr6:10626583 [GRCh38]
Chr6:10626816 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*104A>G single nucleotide variant Blood group, I system [RCV000259601] Chr6:10626711 [GRCh38]
Chr6:10626944 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.1018+15C>G single nucleotide variant Blood group, I system [RCV001151220]|not specified [RCV000243538] Chr6:10621458 [GRCh38]
Chr6:10621691 [GRCh37]
Chr6:6p24.2		 likely benign|uncertain significance
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser) single nucleotide variant Blood group, I system [RCV000286428]|Cataract 13 with adult I phenotype [RCV003626615]|not provided [RCV001675862] Chr6:10556431 [GRCh38]
Chr6:10556664 [GRCh37]
Chr6:6p24.3		 benign|uncertain significance
NM_001491.3(GCNT2):c.741G>A (p.Ala247=) single nucleotide variant Cataract 13 with adult I phenotype [RCV000878452]|not specified [RCV000253573] Chr6:10557164 [GRCh38]
Chr6:10557397 [GRCh37]
Chr6:6p24.3		 benign
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.3-24.2(chr6:10489661-10725195)x1 copy number loss See cases [RCV000240496] Chr6:10489661..10725195 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
NM_001491.3(GCNT2):c.216C>T (p.Cys72=) single nucleotide variant Blood group, I system [RCV000390728]|Cataract 13 with adult I phenotype [RCV001510678]|not provided [RCV001696192]|not specified [RCV000248092] Chr6:10556639 [GRCh38]
Chr6:10556872 [GRCh37]
Chr6:6p24.3		 benign|likely benign
NM_145649.5(GCNT2):c.925+25913G>T single nucleotide variant Blood group, I system [RCV000333988]|not provided [RCV001653702] Chr6:10555749 [GRCh38]
Chr6:10555982 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.*2520C>A single nucleotide variant Blood group, I system [RCV000375015] Chr6:10629127 [GRCh38]
Chr6:10629360 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.*1317G>A single nucleotide variant Blood group, I system [RCV000268567]|not provided [RCV004695892] Chr6:10627924 [GRCh38]
Chr6:10628157 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*196A>G single nucleotide variant Blood group, I system [RCV000284082] Chr6:10626803 [GRCh38]
Chr6:10627036 [GRCh37]
Chr6:6p24.2		 likely benign|uncertain significance
NM_001491.3(GCNT2):c.630T>G (p.Gly210=) single nucleotide variant Blood group, I system [RCV000397293]|Cataract 13 with adult I phenotype [RCV000950532]|GCNT2-related disorder [RCV003957830] Chr6:10557053 [GRCh38]
Chr6:10557286 [GRCh37]
Chr6:6p24.3		 benign|likely benign|uncertain significance
NM_145649.5(GCNT2):c.925+26270G>C single nucleotide variant Blood group, I system [RCV000335478] Chr6:10556106 [GRCh38]
Chr6:10556339 [GRCh37]
Chr6:6p24.3		 benign|likely benign
NM_145649.5(GCNT2):c.*93G>A single nucleotide variant Blood group, I system [RCV000354459] Chr6:10626700 [GRCh38]
Chr6:10626933 [GRCh37]
Chr6:6p24.2		 likely benign|uncertain significance
NM_145649.5(GCNT2):c.*1386C>G single nucleotide variant Blood group, I system [RCV000323723] Chr6:10627993 [GRCh38]
Chr6:10628226 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001491.3(GCNT2):c.303C>T (p.Ile101=) single nucleotide variant Blood group, I system [RCV000347397] Chr6:10556726 [GRCh38]
Chr6:10556959 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*130C>T single nucleotide variant Blood group, I system [RCV000378698] Chr6:10626737 [GRCh38]
Chr6:10626970 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*2503G>A single nucleotide variant Blood group, I system [RCV000348419] Chr6:10629110 [GRCh38]
Chr6:10629343 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*81G>A single nucleotide variant Blood group, I system [RCV000318386]|not provided [RCV001584079] Chr6:10626688 [GRCh38]
Chr6:10626921 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.925+26075C>T single nucleotide variant Blood group, I system [RCV000375081] Chr6:10555911 [GRCh38]
Chr6:10556144 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*2026A>G single nucleotide variant Blood group, I system [RCV000289554] Chr6:10628633 [GRCh38]
Chr6:10628866 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*939G>T single nucleotide variant Blood group, I system [RCV000350717] Chr6:10627546 [GRCh38]
Chr6:10627779 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.*671C>T single nucleotide variant Blood group, I system [RCV000405963] Chr6:10627278 [GRCh38]
Chr6:10627511 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.*1990C>T single nucleotide variant Blood group, I system [RCV000384021] Chr6:10628597 [GRCh38]
Chr6:10628830 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*467T>C single nucleotide variant Blood group, I system [RCV000384400] Chr6:10627074 [GRCh38]
Chr6:10627307 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+25945G>A single nucleotide variant Blood group, I system [RCV000274647] Chr6:10555781 [GRCh38]
Chr6:10556014 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*105C>T single nucleotide variant Blood group, I system [RCV000324099] Chr6:10626712 [GRCh38]
Chr6:10626945 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.*1074A>G single nucleotide variant Blood group, I system [RCV000357275] Chr6:10627681 [GRCh38]
Chr6:10627914 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001491.3(GCNT2):c.330G>A (p.Arg110=) single nucleotide variant Blood group, I system [RCV000404839]|Cataract 13 with adult I phenotype [RCV000534236]|not provided [RCV001709627] Chr6:10556753 [GRCh38]
Chr6:10556986 [GRCh37]
Chr6:6p24.3		 benign|uncertain significance
NM_001491.3(GCNT2):c.442G>A (p.Ala148Thr) single nucleotide variant Blood group, I system [RCV000307868] Chr6:10556865 [GRCh38]
Chr6:10557098 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.761A>G (p.His254Arg) single nucleotide variant Blood group, I system [RCV000367394]|not provided [RCV004695891] Chr6:10557184 [GRCh38]
Chr6:10557417 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*2452G>C single nucleotide variant Blood group, I system [RCV000295434] Chr6:10629059 [GRCh38]
Chr6:10629292 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly) single nucleotide variant Blood group, I system [RCV000362677]|Cataract 13 with adult I phenotype [RCV000877384] Chr6:10556940 [GRCh38]
Chr6:10557173 [GRCh37]
Chr6:6p24.3		 benign|uncertain significance
NM_145649.5(GCNT2):c.*682G>C single nucleotide variant Blood group, I system [RCV000295835] Chr6:10627289 [GRCh38]
Chr6:10627522 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.*1733T>G single nucleotide variant Blood group, I system [RCV000265046] Chr6:10628340 [GRCh38]
Chr6:10628573 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.925+26357G>T single nucleotide variant Blood group, I system [RCV000371490] Chr6:10556193 [GRCh38]
Chr6:10556426 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1174T>C single nucleotide variant Blood group, I system [RCV000299116] Chr6:10627781 [GRCh38]
Chr6:10628014 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=) single nucleotide variant Blood group, I system [RCV000312665]|Cataract 13 with adult I phenotype [RCV000559672]|not provided [RCV001753828] Chr6:10557110 [GRCh38]
Chr6:10557343 [GRCh37]
Chr6:6p24.3		 benign|uncertain significance
NM_145649.5(GCNT2):c.*1112G>A single nucleotide variant Blood group, I system [RCV000395314] Chr6:10627719 [GRCh38]
Chr6:10627952 [GRCh37]
Chr6:6p24.2		 likely benign|uncertain significance
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) single nucleotide variant Blood group, I system [RCV000283024]|Cataract 13 with adult I phenotype [RCV001483687]|GCNT2-related disorder [RCV003902375] Chr6:10556677 [GRCh38]
Chr6:10556910 [GRCh37]
Chr6:6p24.3		 likely benign|uncertain significance
NM_145649.5(GCNT2):c.*225G>A single nucleotide variant Blood group, I system [RCV000320397] Chr6:10626832 [GRCh38]
Chr6:10627065 [GRCh37]
Chr6:6p24.2		 benign|likely benign
NM_145649.5(GCNT2):c.*2529A>C single nucleotide variant Blood group, I system [RCV000280612] Chr6:10629136 [GRCh38]
Chr6:10629369 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+26208G>A single nucleotide variant Blood group, I system [RCV000280412] Chr6:10556044 [GRCh38]
Chr6:10556277 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.926-35733C>A single nucleotide variant not provided [RCV002285836] Chr6:10585618 [GRCh38]
Chr6:10585851 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001491.3(GCNT2):c.259_262del (p.Ser87fs) deletion Blood group, I system [RCV000490409] Chr6:10556680..10556683 [GRCh38]
Chr6:10556913..10556916 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1956C>G single nucleotide variant Blood group, I system [RCV000329431] Chr6:10628563 [GRCh38]
Chr6:10628796 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+26039G>A single nucleotide variant Blood group, I system [RCV000329871] Chr6:10555875 [GRCh38]
Chr6:10556108 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1007TTCA[2] microsatellite Adult i blood group with or without congenital cataract [RCV000405183] Chr6:10627614..10627617 [GRCh38]
Chr6:10627847..10627850 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+25926_925+25931delinsCCCCACTTTTT indel Adult i blood group with or without congenital cataract [RCV000387849] Chr6:10555762..10555767 [GRCh38]
Chr6:10555995..10556000 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*2322dup duplication Adult i blood group with or without congenital cataract [RCV000389677] Chr6:10628928..10628929 [GRCh38]
Chr6:10629161..10629162 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*1314C>T single nucleotide variant Blood group, I system [RCV000353939] Chr6:10627921 [GRCh38]
Chr6:10628154 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145655.3(GCNT2):c.*2765C>T single nucleotide variant Adult i blood group with or without congenital cataract [RCV000406508] Chr6:10629372 [GRCh38]
Chr6:10629605 [GRCh37]
Chr6:6p24.2		 likely benign
NM_145649.5(GCNT2):c.*2224G>C single nucleotide variant Blood group, I system [RCV000325898] Chr6:10628831 [GRCh38]
Chr6:10629064 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*1022_*1025dup duplication Adult i blood group with or without congenital cataract [RCV000311882] Chr6:10627628..10627629 [GRCh38]
Chr6:10627861..10627862 [GRCh37]
Chr6:6p24.2		 likely benign
NM_001491.3(GCNT2):c.49ATT[1] (p.Ile18del) microsatellite Adult i blood group with or without congenital cataract [RCV000341650] Chr6:10556472..10556474 [GRCh38]
Chr6:10556705..10556707 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*592A>G single nucleotide variant Blood group, I system [RCV000290032] Chr6:10627199 [GRCh38]
Chr6:10627432 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*1664TATT[2] microsatellite Adult i blood group with or without congenital cataract [RCV000359240] Chr6:10628271..10628274 [GRCh38]
Chr6:10628504..10628507 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*637A>G single nucleotide variant Blood group, I system [RCV000344767] Chr6:10627244 [GRCh38]
Chr6:10627477 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001491.3(GCNT2):c.577T>G (p.Phe193Val) single nucleotide variant Cataract 13 with adult I phenotype [RCV000547277] Chr6:10557000 [GRCh38]
Chr6:10557233 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)x3 copy number gain See cases [RCV000447409] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
NM_145649.5(GCNT2):c.1018G>A (p.Gly340Ser) single nucleotide variant Cataract 13 with adult I phenotype [RCV002525476]|not provided [RCV000427750] Chr6:10621443 [GRCh38]
Chr6:10621676 [GRCh37]
Chr6:6p24.2		 likely pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_145649.5(GCNT2):c.1091T>C (p.Phe364Ser) single nucleotide variant Developmental cataract [RCV000490781] Chr6:10626489 [GRCh38]
Chr6:10626722 [GRCh37]
Chr6:6p24.2		 pathogenic
NM_145649.5(GCNT2):c.1169_1172del (p.Asn390fs) deletion Developmental cataract [RCV000490793] Chr6:10626564..10626567 [GRCh38]
Chr6:10626797..10626800 [GRCh37]
Chr6:6p24.2		 likely pathogenic
NM_145649.5(GCNT2):c.1100A>C (p.Lys367Thr) single nucleotide variant Cataract 13 with adult I phenotype [RCV000558209] Chr6:10626498 [GRCh38]
Chr6:10626731 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1 copy number loss not provided [RCV000682643] Chr6:6990611..11276452 [GRCh37]
Chr6:6p25.1-24.2		 pathogenic
GRCh37/hg19 6p24.3-24.2(chr6:10471236-10728452)x1 copy number loss not provided [RCV000682645] Chr6:10471236..10728452 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10546386-10703938)x1 copy number loss not provided [RCV000682647] Chr6:10546386..10703938 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10543097-10640180)x1 copy number loss not provided [RCV000682646] Chr6:10543097..10640180 [GRCh37]
Chr6:6p24.3-24.2		 likely benign|uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10581859-10639964)x1 copy number loss not provided [RCV000682648] Chr6:10581859..10639964 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001491.3(GCNT2):c.60del (p.Ile20fs) deletion Cataract 13 with adult I phenotype [RCV000692059] Chr6:10556483 [GRCh38]
Chr6:10556716 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p24.3(chr6:10489962-10550246)x1 copy number loss not provided [RCV000745463] Chr6:10489962..10550246 [GRCh37]
Chr6:6p24.3		 benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs) insertion Cataract 13 with adult I phenotype [RCV000692516] Chr6:10557133..10557134 [GRCh38]
Chr6:10557366..10557367 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh37/hg19 6p24.3(chr6:10466038-10529014)x1 copy number loss not provided [RCV000745458] Chr6:10466038..10529014 [GRCh37]
Chr6:6p24.3		 benign
GRCh37/hg19 6p24.3(chr6:10467695-10529383)x1 copy number loss not provided [RCV000745459] Chr6:10467695..10529383 [GRCh37]
Chr6:6p24.3		 benign
GRCh37/hg19 6p24.3(chr6:10467695-10536889)x1 copy number loss not provided [RCV000745460] Chr6:10467695..10536889 [GRCh37]
Chr6:6p24.3		 benign
GRCh37/hg19 6p24.3(chr6:10471262-10536889)x1 copy number loss not provided [RCV000745461] Chr6:10471262..10536889 [GRCh37]
Chr6:6p24.3		 benign
GRCh37/hg19 6p24.3-24.2(chr6:10471262-10729020)x1 copy number loss not provided [RCV000745462] Chr6:10471262..10729020 [GRCh37]
Chr6:6p24.3-24.2		 benign
GRCh37/hg19 6p24.3(chr6:10489962-10556872)x1 copy number loss not provided [RCV000745464] Chr6:10489962..10556872 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.926-35578A>C single nucleotide variant not provided [RCV001648122] Chr6:10585773 [GRCh38]
Chr6:10586006 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.-26A>C single nucleotide variant not provided [RCV001708033] Chr6:10528886 [GRCh38]
Chr6:10529119 [GRCh37]
Chr6:6p24.3		 benign
NC_000006.12:g.(?_10528892)_(10557362_?)del deletion Cataract 13 with adult I phenotype [RCV001031320] Chr6:10529125..10557595 [GRCh37]
Chr6:6p24.3		 pathogenic
NM_145649.5(GCNT2):c.-281-70T>C single nucleotide variant not provided [RCV001708581] Chr6:10528561 [GRCh38]
Chr6:10528794 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.926-35604A>G single nucleotide variant not provided [RCV001648272] Chr6:10585747 [GRCh38]
Chr6:10585980 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.1018+191T>C single nucleotide variant not provided [RCV001645565] Chr6:10621634 [GRCh38]
Chr6:10621867 [GRCh37]
Chr6:6p24.2		 benign
NC_000006.12:g.(?_10393499)_(11010809_?)dup duplication not provided [RCV001033945] Chr6:10393732..11011042 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
NM_001491.3(GCNT2):c.169_187dup (p.Lys63fs) duplication Blood group, I system [RCV000779480]|not provided [RCV004692233] Chr6:10556581..10556582 [GRCh38]
Chr6:10556814..10556815 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.552C>G (p.Tyr184Ter) single nucleotide variant Blood group, I system [RCV000779481] Chr6:10556975 [GRCh38]
Chr6:10557208 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1191dup (p.Pro398fs) duplication Blood group, I system [RCV000779482] Chr6:10626587..10626588 [GRCh38]
Chr6:10626820..10626821 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.926-34857G>A single nucleotide variant Cataract 13 with adult I phenotype [RCV000870741]|not provided [RCV002292591] Chr6:10586494 [GRCh38]
Chr6:10586727 [GRCh37]
Chr6:6p24.3		 benign|likely benign
GRCh37/hg19 6p24.3(chr6:10460871-10530991)x1 copy number loss not provided [RCV000845905] Chr6:10460871..10530991 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10460871-10535650)x1 copy number loss not provided [RCV000849093] Chr6:10460871..10535650 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10460871-10535435)x1 copy number loss not provided [RCV000848765] Chr6:10460871..10535435 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.925+27511G>A single nucleotide variant Blood group, I system [RCV001151218] Chr6:10557347 [GRCh38]
Chr6:10557580 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.925+27519C>T single nucleotide variant Blood group, I system [RCV001151219] Chr6:10557355 [GRCh38]
Chr6:10557588 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.769A>T (p.Thr257Ser) single nucleotide variant Blood group, I system [RCV001151216] Chr6:10557192 [GRCh38]
Chr6:10557425 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1038T>C (p.Ile346=) single nucleotide variant Blood group, I system [RCV001151221]|not provided [RCV004694946] Chr6:10626436 [GRCh38]
Chr6:10626669 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10467100-10535650)x1 copy number loss not provided [RCV000846035] Chr6:10467100..10535650 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1242T>C single nucleotide variant Blood group, I system [RCV001151344] Chr6:10627849 [GRCh38]
Chr6:10628082 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10528333-10575149)x1 copy number loss not provided [RCV000847014] Chr6:10528333..10575149 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh37/hg19 6p24.3(chr6:10460974-10535435)x1 copy number loss not provided [RCV000848808] Chr6:10460974..10535435 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10467100-10535435)x1 copy number loss not provided [RCV000848835] Chr6:10467100..10535435 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10546386-10640180)x1 copy number loss not provided [RCV000848020] Chr6:10546386..10640180 [GRCh37]
Chr6:6p24.3-24.2		 pathogenic
GRCh37/hg19 6p24.3(chr6:10467100-10535435)x1 copy number loss not provided [RCV000848045] Chr6:10467100..10535435 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10467100-10530991)x1 copy number loss not provided [RCV000846877] Chr6:10467100..10530991 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NC_000006.12:g.(?_10556404)_(10626627_?)del deletion Cataract 13 with adult I phenotype [RCV001031363] Chr6:10556637..10626860 [GRCh37]
Chr6:6p24.3-24.2		 pathogenic
GRCh37/hg19 6p24.3(chr6:10329349-10553787)x3 copy number gain not provided [RCV000846238] Chr6:10329349..10553787 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*916A>C single nucleotide variant Blood group, I system [RCV001156793] Chr6:10627523 [GRCh38]
Chr6:10627756 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+26138C>T single nucleotide variant Blood group, I system [RCV001154179] Chr6:10555974 [GRCh38]
Chr6:10556207 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1126A>G (p.Thr376Ala) single nucleotide variant Blood group, I system [RCV001154290] Chr6:10626524 [GRCh38]
Chr6:10626757 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*1883T>G single nucleotide variant Blood group, I system [RCV001154388] Chr6:10628490 [GRCh38]
Chr6:10628723 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+26338G>A single nucleotide variant Blood group, I system [RCV001155015] Chr6:10556174 [GRCh38]
Chr6:10556407 [GRCh37]
Chr6:6p24.3		 uncertain significance
NC_000006.11:g.(?_10556657)_(10626840_?)del deletion Cataract 13 with adult I phenotype [RCV003107423] Chr6:10556657..10626840 [GRCh37]
Chr6:6p24.3-24.2		 pathogenic
NM_145649.5(GCNT2):c.926-35732G>A single nucleotide variant not provided [RCV001569874] Chr6:10585619 [GRCh38]
Chr6:10585852 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.1018+288A>G single nucleotide variant not provided [RCV001708555] Chr6:10621731 [GRCh38]
Chr6:10621964 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.925+104C>A single nucleotide variant not provided [RCV001552404] Chr6:10529940 [GRCh38]
Chr6:10530173 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.925+26049C>T single nucleotide variant Blood group, I system [RCV001154177] Chr6:10555885 [GRCh38]
Chr6:10556118 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.925+26157C>G single nucleotide variant Blood group, I system [RCV001154180] Chr6:10555993 [GRCh38]
Chr6:10556226 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1857G>A single nucleotide variant Blood group, I system [RCV001154386] Chr6:10628464 [GRCh38]
Chr6:10628697 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*2330G>T single nucleotide variant Blood group, I system [RCV001155229] Chr6:10628937 [GRCh38]
Chr6:10629170 [GRCh37]
Chr6:6p24.2		 likely benign
NM_145649.5(GCNT2):c.*2482T>C single nucleotide variant Blood group, I system [RCV001155230] Chr6:10629089 [GRCh38]
Chr6:10629322 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001491.3(GCNT2):c.389C>G (p.Ala130Gly) single nucleotide variant Blood group, I system [RCV001156675] Chr6:10556812 [GRCh38]
Chr6:10557045 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.553G>A (p.Val185Ile) single nucleotide variant Blood group, I system [RCV001156677] Chr6:10556976 [GRCh38]
Chr6:10557209 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.926-34179T>C single nucleotide variant not provided [RCV001596525] Chr6:10587172 [GRCh38]
Chr6:10587405 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.926-35471G>A single nucleotide variant not provided [RCV001638853] Chr6:10585880 [GRCh38]
Chr6:10586113 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.1018+252T>C single nucleotide variant not provided [RCV001686217] Chr6:10621695 [GRCh38]
Chr6:10621928 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.926-34163G>A single nucleotide variant not provided [RCV001621588] Chr6:10587188 [GRCh38]
Chr6:10587421 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.926-34528A>G single nucleotide variant not provided [RCV001686828] Chr6:10586823 [GRCh38]
Chr6:10587056 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.926-34655A>G single nucleotide variant not provided [RCV001676355] Chr6:10586696 [GRCh38]
Chr6:10586929 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.-131A>G single nucleotide variant not provided [RCV001617430] Chr6:10528781 [GRCh38]
Chr6:10529014 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.1018+154C>T single nucleotide variant not provided [RCV001716687] Chr6:10621597 [GRCh38]
Chr6:10621830 [GRCh37]
Chr6:6p24.2		 benign
NM_001491.3(GCNT2):c.344T>C (p.Ile115Thr) single nucleotide variant Blood group, I system [RCV001156674] Chr6:10556767 [GRCh38]
Chr6:10557000 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*608T>G single nucleotide variant Blood group, I system [RCV001156790] Chr6:10627215 [GRCh38]
Chr6:10627448 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*2521C>T single nucleotide variant Blood group, I system [RCV001156886] Chr6:10629128 [GRCh38]
Chr6:10629361 [GRCh37]
Chr6:6p24.2		 likely benign
NM_145649.5(GCNT2):c.*2668A>G single nucleotide variant Blood group, I system [RCV001156887] Chr6:10629275 [GRCh38]
Chr6:10629508 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*1840A>G single nucleotide variant Blood group, I system [RCV001154385] Chr6:10628447 [GRCh38]
Chr6:10628680 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) single nucleotide variant Cataract 13 with adult I phenotype [RCV001047410] Chr6:10626444 [GRCh38]
Chr6:10626677 [GRCh37]
Chr6:6p24.2		 pathogenic|likely pathogenic
NM_145649.5(GCNT2):c.925+26536A>T single nucleotide variant Blood group, I system [RCV001155016] Chr6:10556372 [GRCh38]
Chr6:10556605 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1156G>A (p.Glu386Lys) single nucleotide variant Blood group, I system [RCV001154291] Chr6:10626554 [GRCh38]
Chr6:10626787 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*19A>G single nucleotide variant Blood group, I system [RCV001154292] Chr6:10626626 [GRCh38]
Chr6:10626859 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.1019-86G>A single nucleotide variant not provided [RCV001695968] Chr6:10626331 [GRCh38]
Chr6:10626564 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.926-37C>T single nucleotide variant not provided [RCV001691599] Chr6:10621314 [GRCh38]
Chr6:10621547 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.-58T>C single nucleotide variant not provided [RCV001708016] Chr6:10528854 [GRCh38]
Chr6:10529087 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.925+167A>T single nucleotide variant not provided [RCV001583933] Chr6:10530003 [GRCh38]
Chr6:10530236 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.*398T>A single nucleotide variant Blood group, I system [RCV001155127] Chr6:10627005 [GRCh38]
Chr6:10627238 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.*989C>T single nucleotide variant Blood group, I system [RCV001151343] Chr6:10627596 [GRCh38]
Chr6:10627829 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001491.3(GCNT2):c.476A>G (p.Tyr159Cys) single nucleotide variant Blood group, I system [RCV001156676] Chr6:10556899 [GRCh38]
Chr6:10557132 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1432C>A single nucleotide variant Blood group, I system [RCV001154384] Chr6:10628039 [GRCh38]
Chr6:10628272 [GRCh37]
Chr6:6p24.2		 likely benign
NM_145649.5(GCNT2):c.*189T>A single nucleotide variant Blood group, I system [RCV001155125] Chr6:10626796 [GRCh38]
Chr6:10627029 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*272T>A single nucleotide variant Blood group, I system [RCV001155126] Chr6:10626879 [GRCh38]
Chr6:10627112 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*2136G>A single nucleotide variant Blood group, I system [RCV001155227] Chr6:10628743 [GRCh38]
Chr6:10628976 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*2174G>A single nucleotide variant Blood group, I system [RCV001155228] Chr6:10628781 [GRCh38]
Chr6:10629014 [GRCh37]
Chr6:6p24.2		 likely benign
NM_001491.3(GCNT2):c.772A>G (p.Ile258Val) single nucleotide variant Blood group, I system [RCV001151217] Chr6:10557195 [GRCh38]
Chr6:10557428 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1362T>G single nucleotide variant Blood group, I system [RCV001151345] Chr6:10627969 [GRCh38]
Chr6:10628202 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*669C>T single nucleotide variant Blood group, I system [RCV001156791] Chr6:10627276 [GRCh38]
Chr6:10627509 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.*768G>A single nucleotide variant Blood group, I system [RCV001156792] Chr6:10627375 [GRCh38]
Chr6:10627608 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.925+26059A>G single nucleotide variant Blood group, I system [RCV001154178] Chr6:10555895 [GRCh38]
Chr6:10556128 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.*1862G>C single nucleotide variant Blood group, I system [RCV001154387] Chr6:10628469 [GRCh38]
Chr6:10628702 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.925+26974del deletion Cataract 13 with adult i phenotype [RCV001333947] Chr6:10556806 [GRCh38]
Chr6:10557039 [GRCh37]
Chr6:6p24.3		 pathogenic
NM_145649.5(GCNT2):c.925+27491_925+27494del deletion Cataract 13 with adult i phenotype [RCV001332015] Chr6:10557325..10557328 [GRCh38]
Chr6:10557558..10557561 [GRCh37]
Chr6:6p24.3		 pathogenic
NM_145649.5(GCNT2):c.926-34488del deletion Cataract 13 with adult i phenotype [RCV001333948] Chr6:10586863 [GRCh38]
Chr6:10587096 [GRCh37]
Chr6:6p24.3		 pathogenic
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter) single nucleotide variant Cataract 13 with adult I phenotype [RCV001376182]|GCNT2-related disorder [RCV004756226] Chr6:10528925 [GRCh38]
Chr6:10529158 [GRCh37]
Chr6:6p24.3		 pathogenic|uncertain significance
NC_000006.11:g.(?_10556657)_(10775712_?)del deletion not provided [RCV001338522] Chr6:10556657..10775712 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
NM_001491.3(GCNT2):c.722A>G (p.Tyr241Cys) single nucleotide variant Cataract 13 with adult I phenotype [RCV001320286] Chr6:10557145 [GRCh38]
Chr6:10557378 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.926-34546C>G single nucleotide variant Cataract 13 with adult I phenotype [RCV001702611]|not provided [RCV001615233]|not specified [RCV001528267] Chr6:10586805 [GRCh38]
Chr6:10587038 [GRCh37]
Chr6:6p24.3		 benign
NM_001491.3(GCNT2):c.816C>T (p.Ala272=) single nucleotide variant Cataract 13 with adult I phenotype [RCV001487251] Chr6:10557239 [GRCh38]
Chr6:10557472 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.1155C>T (p.Arg385=) single nucleotide variant Cataract 13 with adult I phenotype [RCV001411698] Chr6:10626553 [GRCh38]
Chr6:10626786 [GRCh37]
Chr6:6p24.2		 likely benign
NM_145649.5(GCNT2):c.1019-238C>T single nucleotide variant not provided [RCV001684064] Chr6:10626179 [GRCh38]
Chr6:10626412 [GRCh37]
Chr6:6p24.2		 benign
NM_145649.5(GCNT2):c.925+27669del deletion not provided [RCV001687626] Chr6:10557494 [GRCh38]
Chr6:10557727 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.925+25819G>A single nucleotide variant not provided [RCV001692512] Chr6:10555655 [GRCh38]
Chr6:10555888 [GRCh37]
Chr6:6p24.3		 benign
NM_145649.5(GCNT2):c.305C>G (p.Thr102Ser) single nucleotide variant GCNT2-related disorder [RCV003966162]|not provided [RCV001539864] Chr6:10529216 [GRCh38]
Chr6:10529449 [GRCh37]
Chr6:6p24.3		 benign|likely benign
NM_145649.5(GCNT2):c.558T>G (p.Tyr186Ter) single nucleotide variant Cataract 13 with adult I phenotype [RCV002244267] Chr6:10529469 [GRCh38]
Chr6:10529702 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10543098-10640180)x1 copy number loss not provided [RCV001834181] Chr6:10543098..10640180 [GRCh37]
Chr6:6p24.3-24.2		 likely benign
GRCh37/hg19 6p24.2(chr6:10620217-10901049) copy number loss not specified [RCV002053553] Chr6:10620217..10901049 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10495235-10581415)x1 copy number loss not provided [RCV001829135] Chr6:10495235..10581415 [GRCh37]
Chr6:6p24.3		 likely benign
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660) copy number gain not specified [RCV002053552] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter) single nucleotide variant Cataract 13 with adult I phenotype [RCV001957678] Chr6:10621425 [GRCh38]
Chr6:10621658 [GRCh37]
Chr6:6p24.2		 pathogenic
NM_001491.3(GCNT2):c.403A>G (p.Lys135Glu) single nucleotide variant Cataract 13 with adult I phenotype [RCV001981242]|Inborn genetic diseases [RCV004045379] Chr6:10556826 [GRCh38]
Chr6:10557059 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.96C>G (p.Ser32Arg) single nucleotide variant Cataract 13 with adult I phenotype [RCV002035700] Chr6:10556519 [GRCh38]
Chr6:10556752 [GRCh37]
Chr6:6p24.3		 uncertain significance
NC_000006.11:g.(?_10398650)_(10882026_?)dup duplication Cataract 13 with adult I phenotype [RCV001916845]|not provided [RCV003107897] Chr6:10398650..10882026 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance|no classifications from unflagged records
NM_001491.3(GCNT2):c.558C>T (p.Ile186=) single nucleotide variant Cataract 13 with adult I phenotype [RCV002084501] Chr6:10556981 [GRCh38]
Chr6:10557214 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.926-193A>G single nucleotide variant not provided [RCV002267402] Chr6:10621158 [GRCh38]
Chr6:10621391 [GRCh37]
Chr6:6p24.2		 likely benign
NM_145649.5(GCNT2):c.926-35472G>A single nucleotide variant not provided [RCV002285837] Chr6:10585879 [GRCh38]
Chr6:10586112 [GRCh37]
Chr6:6p24.3		 likely benign
GRCh37/hg19 6p24.3-24.2(chr6:10487302-10708232)x1 copy number loss not provided [RCV002472897] Chr6:10487302..10708232 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
NM_001491.3(GCNT2):c.646G>A (p.Gly216Arg) single nucleotide variant Inborn genetic diseases [RCV002771775] Chr6:10557069 [GRCh38]
Chr6:10557302 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.460A>G (p.Met154Val) single nucleotide variant Inborn genetic diseases [RCV002682517] Chr6:10556883 [GRCh38]
Chr6:10557116 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.640A>C (p.Asn214His) single nucleotide variant Inborn genetic diseases [RCV002771739] Chr6:10529551 [GRCh38]
Chr6:10529784 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.567C>G (p.Asn189Lys) single nucleotide variant Inborn genetic diseases [RCV002762594] Chr6:10529478 [GRCh38]
Chr6:10529711 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.572A>G (p.Gln191Arg) single nucleotide variant Cataract 13 with adult I phenotype [RCV002928144] Chr6:10556995 [GRCh38]
Chr6:10557228 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1054G>A (p.Gly352Arg) single nucleotide variant Inborn genetic diseases [RCV002759535] Chr6:10626452 [GRCh38]
Chr6:10626685 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_145649.5(GCNT2):c.347C>T (p.Ala116Val) single nucleotide variant Inborn genetic diseases [RCV002759009] Chr6:10529258 [GRCh38]
Chr6:10529491 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.694G>A (p.Val232Ile) single nucleotide variant Inborn genetic diseases [RCV002980189] Chr6:10529605 [GRCh38]
Chr6:10529838 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_001491.3(GCNT2):c.104G>A (p.Arg35Lys) single nucleotide variant Inborn genetic diseases [RCV002782824] Chr6:10556527 [GRCh38]
Chr6:10556760 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.425A>T (p.Gln142Leu) single nucleotide variant Inborn genetic diseases [RCV002921602] Chr6:10529336 [GRCh38]
Chr6:10529569 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.617A>G (p.Tyr206Cys) single nucleotide variant Inborn genetic diseases [RCV002807551] Chr6:10529528 [GRCh38]
Chr6:10529761 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.671T>C (p.Ile224Thr) single nucleotide variant Cataract 13 with adult I phenotype [RCV002583633] Chr6:10557094 [GRCh38]
Chr6:10557327 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1151A>G (p.His384Arg) single nucleotide variant Inborn genetic diseases [RCV003377342] Chr6:10626549 [GRCh38]
Chr6:10626782 [GRCh37]
Chr6:6p24.2		 uncertain significance
GRCh37/hg19 6p24.3(chr6:10099993-10564232)x1 copy number loss not provided [RCV003485502] Chr6:10099993..10564232 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_145649.5(GCNT2):c.926-35284A>G single nucleotide variant not provided [RCV003436492] Chr6:10586067 [GRCh38]
Chr6:10586300 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.926-35040G>A single nucleotide variant GCNT2-related disorder [RCV003402996] Chr6:10586311 [GRCh38]
Chr6:10586544 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.1121C>T (p.Pro374Leu) single nucleotide variant Cataract 13 with adult I phenotype [RCV003626340] Chr6:10626519 [GRCh38]
Chr6:10626752 [GRCh37]
Chr6:6p24.2		 uncertain significance
NM_001491.3(GCNT2):c.760del (p.His254fs) deletion Cataract 13 with adult I phenotype [RCV003627553] Chr6:10557177 [GRCh38]
Chr6:10557410 [GRCh37]
Chr6:6p24.3		 pathogenic
NM_145649.5(GCNT2):c.846C>T (p.Leu282=) single nucleotide variant GCNT2-related disorder [RCV003892308] Chr6:10529757 [GRCh38]
Chr6:10529990 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.926-34540C>T single nucleotide variant GCNT2-related disorder [RCV003957291] Chr6:10586811 [GRCh38]
Chr6:10587044 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.729C>T (p.Tyr243=) single nucleotide variant GCNT2-related disorder [RCV003959855] Chr6:10529640 [GRCh38]
Chr6:10529873 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.820G>A (p.Ala274Thr) single nucleotide variant GCNT2-related disorder [RCV003971563]|not provided [RCV004598305] Chr6:10529731 [GRCh38]
Chr6:10529964 [GRCh37]
Chr6:6p24.3		 benign|likely benign
NM_145649.5(GCNT2):c.861C>G (p.Leu287=) single nucleotide variant GCNT2-related disorder [RCV003907355] Chr6:10529772 [GRCh38]
Chr6:10530005 [GRCh37]
Chr6:6p24.3		 likely benign
NM_145649.5(GCNT2):c.142G>A (p.Ala48Thr) single nucleotide variant GCNT2-related disorder [RCV004756637] Chr6:10529053 [GRCh38]
Chr6:10529286 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.892G>A (p.Glu298Lys) single nucleotide variant GCNT2-related disorder [RCV003903926] Chr6:10529803 [GRCh38]
Chr6:10530036 [GRCh37]
Chr6:6p24.3		 likely benign
NM_001491.3(GCNT2):c.736A>G (p.Thr246Ala) single nucleotide variant GCNT2-related disorder [RCV004732386] Chr6:10557159 [GRCh38]
Chr6:10557392 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_001491.3(GCNT2):c.306T>G (p.His102Gln) single nucleotide variant GCNT2-related disorder [RCV004756935] Chr6:10556729 [GRCh38]
Chr6:10556962 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_145649.5(GCNT2):c.926-34886T>G single nucleotide variant GCNT2-related disorder [RCV004757029] Chr6:10586465 [GRCh38]
Chr6:10586698 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10541521-10645806)x1 copy number loss not provided [RCV000845902] Chr6:10541521..10645806 [GRCh37]
Chr6:6p24.3-24.2		 pathogenic
GRCh37/hg19 6p24.3(chr6:10483812-10560100)x1 copy number loss not provided [RCV000848557] Chr6:10483812..10560100 [GRCh37]
Chr6:6p24.3		 pathogenic
GRCh37/hg19 6p24.3(chr6:10460871-10535435)x1 copy number loss not provided [RCV000846022] Chr6:10460871..10535435 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p24.3-24.2(chr6:10514491-10677096)x1 copy number loss not provided [RCV001258894] Chr6:10514491..10677096 [GRCh37]
Chr6:6p24.3-24.2		 uncertain significance
NM_145649.5(GCNT2):c.862T>C (p.Ser288Pro) single nucleotide variant Inborn genetic diseases [RCV002868212] Chr6:10529773 [GRCh38]
Chr6:10530006 [GRCh37]
Chr6:6p24.3		 uncertain significance
NC_000006.12:g.10509132C>T single nucleotide variant not provided [RCV002512290] Chr6:10509132 [GRCh38]
Chr6:10509365 [GRCh37]
Chr6:6p24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4947
Count of miRNA genes:1123
Interacting mature miRNAs:1411
Transcripts:ENST00000265012, ENST00000316170, ENST00000379597, ENST00000397423, ENST00000410107, ENST00000459872, ENST00000461400, ENST00000474518, ENST00000474983, ENST00000475577, ENST00000483204, ENST00000485764, ENST00000488742, ENST00000489225, ENST00000489819, ENST00000495262, ENST00000498320
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407387273GWAS1036249_Hmonocyte count QTL GWAS1036249 (human)4e-18monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)61052614010526141Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
407407243GWAS1056219_Hmonocyte percentage of leukocytes QTL GWAS1056219 (human)2e-23monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)61053323010533231Human
407414348GWAS1063324_Hbody mass index QTL GWAS1063324 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)61055437710554378Human
407367171GWAS1016147_Hprotein measurement QTL GWAS1016147 (human)2e-08protein measurement61055971810559719Human
407058053GWAS707029_Hmonocyte count QTL GWAS707029 (human)4e-59monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)61052614010526141Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
407219017GWAS867993_Hleukocyte count QTL GWAS867993 (human)5e-12leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)61053749310537494Human
407223499GWAS872475_Hblood protein measurement QTL GWAS872475 (human)2e-52blood protein measurementblood protein measurement (CMO:0000028)61052656510526566Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
407356373GWAS1005349_Hsensory perception of sweet taste QTL GWAS1005349 (human)0.000008sensory perception of sweet taste61061322410613225Human
407384091GWAS1033067_Hlymphocyte count QTL GWAS1033067 (human)1e-11lymphocyte countblood lymphocyte count (CMO:0000031)61053457810534579Human
407102096GWAS751072_Hbody mass index QTL GWAS751072 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)61054549510545496Human
407415260GWAS1064236_Hlipid measurement QTL GWAS1064236 (human)0.000003lipid measurementblood lipid measurement (CMO:0000050)61055505610555057Human
407225811GWAS874787_Hblood protein measurement QTL GWAS874787 (human)3e-52blood protein measurementblood protein measurement (CMO:0000028)61052656510526566Human
407384479GWAS1033455_Hmyeloid white cell count QTL GWAS1033455 (human)2e-13myeloid white cell countwhite blood cell count (CMO:0000027)61052614010526141Human
407054233GWAS703209_Hlymphocyte count QTL GWAS703209 (human)2e-10lymphocyte countblood lymphocyte count (CMO:0000031)61054549510545496Human
407081183GWAS730159_Hhair colour measurement QTL GWAS730159 (human)5e-17hair colour measurementcoat/hair color measurement (CMO:0001808)61059599010595991Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
407380513GWAS1029489_Hlymphocyte count QTL GWAS1029489 (human)2e-11lymphocyte countblood lymphocyte count (CMO:0000031)61052614010526141Human
407370094GWAS1019070_Hmonocyte percentage of leukocytes QTL GWAS1019070 (human)8e-10monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)61052614010526141Human
407341548GWAS990524_Hurate measurement QTL GWAS990524 (human)7e-09urate measurementblood uric acid level (CMO:0000501)61052314210523143Human
407298993GWAS947969_Hlean body mass QTL GWAS947969 (human)0.0000008body lean mass (VT:0010483)total body lean mass (CMO:0003950)61060677810606779Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human

Markers in Region
D6S2094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37610,626,861 - 10,627,028UniSTSGRCh37
Build 36610,734,847 - 10,735,014RGDNCBI36
Celera611,855,358 - 11,855,525RGD
Cytogenetic Map6p24.2UniSTS
HuRef610,502,607 - 10,502,774UniSTS
Stanford-G3 RH Map6320.0UniSTS
GeneMap99-G3 RH Map6320.0UniSTS
D6S1995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37610,615,388 - 10,615,539UniSTSGRCh37
Build 36610,723,374 - 10,723,525RGDNCBI36
Celera611,843,886 - 11,844,037RGD
Cytogenetic Map6p24.2UniSTS
HuRef610,491,135 - 10,491,286UniSTS
Stanford-G3 RH Map6355.0UniSTS
NCBI RH Map6185.0UniSTS
STS-Z19550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37610,626,903 - 10,627,029UniSTSGRCh37
Build 36610,734,889 - 10,735,015RGDNCBI36
Celera611,855,400 - 11,855,526RGD
Cytogenetic Map6p24.2UniSTS
HuRef610,502,649 - 10,502,775UniSTS
GeneMap99-GB4 RH Map649.55UniSTS
NCBI RH Map6114.4UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2406 2784 2240 4936 1723 2343 4 622 1936 464 2264 7243 6437 48 3699 847 1728 1609 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB078432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB078433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01022081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF401652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF401653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF458030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY435145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY435146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY435147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX503586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB208581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z19550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265012   ⟹   ENSP00000265012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,585,760 - 10,629,368 (+)Ensembl
Ensembl Acc Id: ENST00000316170   ⟹   ENSP00000314844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,555,809 - 10,629,368 (+)Ensembl
Ensembl Acc Id: ENST00000379597   ⟹   ENSP00000368917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,528,356 - 10,629,367 (+)Ensembl
Ensembl Acc Id: ENST00000397423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,521,332 - 10,626,947 (+)Ensembl
Ensembl Acc Id: ENST00000410107   ⟹   ENSP00000386321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,492,223 - 10,627,222 (+)Ensembl
Ensembl Acc Id: ENST00000459872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,556,801 - 10,619,441 (+)Ensembl
Ensembl Acc Id: ENST00000461400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,529,812 - 10,621,645 (+)Ensembl
Ensembl Acc Id: ENST00000474518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,521,485 - 10,621,422 (+)Ensembl
Ensembl Acc Id: ENST00000474983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,521,309 - 10,530,267 (+)Ensembl
Ensembl Acc Id: ENST00000475577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,521,351 - 10,626,616 (+)Ensembl
Ensembl Acc Id: ENST00000483204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,527,366 - 10,529,279 (+)Ensembl
Ensembl Acc Id: ENST00000485764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,529,797 - 10,626,464 (+)Ensembl
Ensembl Acc Id: ENST00000488742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,492,226 - 10,528,707 (+)Ensembl
Ensembl Acc Id: ENST00000489225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,492,224 - 10,626,972 (+)Ensembl
Ensembl Acc Id: ENST00000489819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,521,420 - 10,626,557 (+)Ensembl
Ensembl Acc Id: ENST00000495262   ⟹   ENSP00000419411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,521,351 - 10,629,368 (+)Ensembl
Ensembl Acc Id: ENST00000640968   ⟹   ENSP00000492466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl610,556,424 - 10,557,993 (+)Ensembl
RefSeq Acc Id: NM_001374747   ⟹   NP_001361676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,528,370 - 10,629,368 (+)NCBI
T2T-CHM13v2.0610,396,078 - 10,497,066 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001491   ⟹   NP_001482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,555,809 - 10,629,368 (+)NCBI
GRCh37610,521,542 - 10,629,601 (+)NCBI
Build 36610,663,935 - 10,737,587 (+)NCBI Archive
HuRef610,397,294 - 10,505,347 (+)ENTREZGENE
CHM1_1610,558,090 - 10,631,709 (+)NCBI
T2T-CHM13v2.0610,423,515 - 10,497,066 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145649   ⟹   NP_663624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,629,368 (+)NCBI
GRCh37610,521,542 - 10,629,601 (+)NCBI
Build 36610,636,697 - 10,737,587 (+)NCBI Archive
HuRef610,397,294 - 10,505,347 (+)ENTREZGENE
CHM1_1610,523,710 - 10,631,709 (+)NCBI
T2T-CHM13v2.0610,389,059 - 10,497,066 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145655   ⟹   NP_663630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,585,760 - 10,629,368 (+)NCBI
GRCh37610,521,542 - 10,629,601 (+)NCBI
Build 36610,693,979 - 10,737,587 (+)NCBI Archive
HuRef610,397,294 - 10,505,347 (+)ENTREZGENE
CHM1_1610,588,110 - 10,631,709 (+)NCBI
T2T-CHM13v2.0610,453,493 - 10,497,066 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248997   ⟹   XP_005249054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,555,834 - 10,573,348 (+)NCBI
GRCh37610,521,542 - 10,629,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248999   ⟹   XP_005249056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,629,368 (+)NCBI
GRCh37610,521,542 - 10,629,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715052   ⟹   XP_006715115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,629,368 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514468   ⟹   XP_011512770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,530,467 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418632   ⟹   XP_047274588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,557,342 (+)NCBI
RefSeq Acc Id: XM_047418633   ⟹   XP_047274589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,629,368 (+)NCBI
RefSeq Acc Id: XM_054355145   ⟹   XP_054211120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,119 - 10,497,066 (+)NCBI
RefSeq Acc Id: XM_054355146   ⟹   XP_054211121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,419,714 - 10,497,066 (+)NCBI
RefSeq Acc Id: XM_054355147   ⟹   XP_054211122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,059 - 10,445,891 (+)NCBI
RefSeq Acc Id: XM_054355148   ⟹   XP_054211123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,423,540 - 10,445,903 (+)NCBI
RefSeq Acc Id: XM_054355149   ⟹   XP_054211124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,059 - 10,425,048 (+)NCBI
RefSeq Acc Id: XM_054355150   ⟹   XP_054211125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,453,493 - 10,486,818 (+)NCBI
RefSeq Acc Id: XM_054355151   ⟹   XP_054211126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,059 - 10,497,066 (+)NCBI
RefSeq Acc Id: XM_054355152   ⟹   XP_054211127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,119 - 10,497,066 (+)NCBI
RefSeq Acc Id: XM_054355153   ⟹   XP_054211128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,059 - 10,398,425 (+)NCBI
RefSeq Acc Id: XR_002956275
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,621,426 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007059235
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,555,834 - 10,621,437 (+)NCBI
RefSeq Acc Id: XR_008487295
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,059 - 10,489,131 (+)NCBI
RefSeq Acc Id: XR_008487296
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,423,540 - 10,489,131 (+)NCBI
RefSeq Acc Id: XR_008487297
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0610,389,059 - 10,489,120 (+)NCBI
RefSeq Acc Id: XR_926136
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,621,437 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001361676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001482 (Get FASTA)   NCBI Sequence Viewer  
  NP_663624 (Get FASTA)   NCBI Sequence Viewer  
  NP_663630 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249054 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249056 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715115 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512770 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274588 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274589 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211128 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA81777 (Get FASTA)   NCBI Sequence Viewer  
  AAA99832 (Get FASTA)   NCBI Sequence Viewer  
  AAH74801 (Get FASTA)   NCBI Sequence Viewer  
  AAH74802 (Get FASTA)   NCBI Sequence Viewer  
  AAI30525 (Get FASTA)   NCBI Sequence Viewer  
  AAL50561 (Get FASTA)   NCBI Sequence Viewer  
  AAL50562 (Get FASTA)   NCBI Sequence Viewer  
  AAM73864 (Get FASTA)   NCBI Sequence Viewer  
  AAM73865 (Get FASTA)   NCBI Sequence Viewer  
  AAM73866 (Get FASTA)   NCBI Sequence Viewer  
  AAM73867 (Get FASTA)   NCBI Sequence Viewer  
  AAM73869 (Get FASTA)   NCBI Sequence Viewer  
  AAM73870 (Get FASTA)   NCBI Sequence Viewer  
  AAM74524 (Get FASTA)   NCBI Sequence Viewer  
  AAR95646 (Get FASTA)   NCBI Sequence Viewer  
  AAR95647 (Get FASTA)   NCBI Sequence Viewer  
  AAR95648 (Get FASTA)   NCBI Sequence Viewer  
  BAC03464 (Get FASTA)   NCBI Sequence Viewer  
  BAC05234 (Get FASTA)   NCBI Sequence Viewer  
  BAC66781 (Get FASTA)   NCBI Sequence Viewer  
  BAC66782 (Get FASTA)   NCBI Sequence Viewer  
  BAF83884 (Get FASTA)   NCBI Sequence Viewer  
  BAF84456 (Get FASTA)   NCBI Sequence Viewer  
  BAG36218 (Get FASTA)   NCBI Sequence Viewer  
  BAG36626 (Get FASTA)   NCBI Sequence Viewer  
  CAA79610 (Get FASTA)   NCBI Sequence Viewer  
  CAI46081 (Get FASTA)   NCBI Sequence Viewer  
  EAW55259 (Get FASTA)   NCBI Sequence Viewer  
  EAW55260 (Get FASTA)   NCBI Sequence Viewer  
  EAW55261 (Get FASTA)   NCBI Sequence Viewer  
  EAW55262 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265012
  ENSP00000265012.4
  ENSP00000314844
  ENSP00000314844.3
  ENSP00000368917
  ENSP00000368917.3
  ENSP00000386321.1
  ENSP00000419411
  ENSP00000419411.2
  ENSP00000493918.1
  ENSP00000494927.1
  ENSP00000494951.1
  ENSP00000495042.1
  ENSP00000495396.1
  ENSP00000495911.1
GenBank Protein Q8N0V5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_663624   ⟸   NM_145649
- Peptide Label: isoform A
- UniProtKB: Q6T5E5 (UniProtKB/Swiss-Prot),   Q5W0E9 (UniProtKB/Swiss-Prot),   Q5T4J1 (UniProtKB/Swiss-Prot),   Q06430 (UniProtKB/Swiss-Prot),   Q8NFS9 (UniProtKB/Swiss-Prot),   Q8N0V5 (UniProtKB/Swiss-Prot),   Q08M29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001482   ⟸   NM_001491
- Peptide Label: isoform B
- UniProtKB: Q8WXK6 (UniProtKB/TrEMBL),   Q8WXK7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_663630   ⟸   NM_145655
- Peptide Label: isoform C
- UniProtKB: A0AAG2TJN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249056   ⟸   XM_005248999
- Peptide Label: isoform X4
- UniProtKB: Q08M29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249054   ⟸   XM_005248997
- Peptide Label: isoform X2
- UniProtKB: A0AAG2TJ15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715115   ⟸   XM_006715052
- Peptide Label: isoform X1
- UniProtKB: Q6T5E5 (UniProtKB/Swiss-Prot),   Q5W0E9 (UniProtKB/Swiss-Prot),   Q5T4J1 (UniProtKB/Swiss-Prot),   Q06430 (UniProtKB/Swiss-Prot),   Q8NFS9 (UniProtKB/Swiss-Prot),   Q8N0V5 (UniProtKB/Swiss-Prot),   Q08M29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512770   ⟸   XM_011514468
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001361676   ⟸   NM_001374747
- Peptide Label: isoform A
- UniProtKB: Q8N0V5 (UniProtKB/Swiss-Prot),   Q6T5E5 (UniProtKB/Swiss-Prot),   Q5W0E9 (UniProtKB/Swiss-Prot),   Q5T4J1 (UniProtKB/Swiss-Prot),   Q06430 (UniProtKB/Swiss-Prot),   Q8NFS9 (UniProtKB/Swiss-Prot),   Q08M29 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000386321   ⟸   ENST00000410107
Ensembl Acc Id: ENSP00000419411   ⟸   ENST00000495262
Ensembl Acc Id: ENSP00000368917   ⟸   ENST00000379597
Ensembl Acc Id: ENSP00000492466   ⟸   ENST00000640968
Ensembl Acc Id: ENSP00000314844   ⟸   ENST00000316170
Ensembl Acc Id: ENSP00000265012   ⟸   ENST00000265012
RefSeq Acc Id: XP_047274589   ⟸   XM_047418633
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047274588   ⟸   XM_047418632
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211126   ⟸   XM_054355151
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054211122   ⟸   XM_054355147
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054211124   ⟸   XM_054355149
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211128   ⟸   XM_054355153
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054211120   ⟸   XM_054355145
- Peptide Label: isoform X1
- UniProtKB: Q8N0V5 (UniProtKB/Swiss-Prot),   Q6T5E5 (UniProtKB/Swiss-Prot),   Q5W0E9 (UniProtKB/Swiss-Prot),   Q5T4J1 (UniProtKB/Swiss-Prot),   Q06430 (UniProtKB/Swiss-Prot),   Q8NFS9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211127   ⟸   XM_054355152
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054211121   ⟸   XM_054355146
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054211123   ⟸   XM_054355148
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211125   ⟸   XM_054355150
- Peptide Label: isoform X9

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N0V5-F1-model_v2 AlphaFold Q8N0V5 1-402 view protein structure

Promoters
RGD ID:6872014
Promoter ID:EPDNEW_H9172
Type:initiation region
Name:GCNT2_1
Description:glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9171  EPDNEW_H9173  EPDNEW_H9174  EPDNEW_H9175  EPDNEW_H9176  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,521,351 - 10,521,411EPDNEW
RGD ID:6872016
Promoter ID:EPDNEW_H9173
Type:initiation region
Name:GCNT2_2
Description:glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9171  EPDNEW_H9172  EPDNEW_H9174  EPDNEW_H9175  EPDNEW_H9176  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,528,370 - 10,528,430EPDNEW
RGD ID:6872018
Promoter ID:EPDNEW_H9174
Type:initiation region
Name:GCNT2_4
Description:glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9171  EPDNEW_H9172  EPDNEW_H9173  EPDNEW_H9175  EPDNEW_H9176  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,528,510 - 10,528,570EPDNEW
RGD ID:6872020
Promoter ID:EPDNEW_H9175
Type:initiation region
Name:GCNT2_6
Description:glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9171  EPDNEW_H9172  EPDNEW_H9173  EPDNEW_H9174  EPDNEW_H9176  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,555,989 - 10,556,049EPDNEW
RGD ID:6872022
Promoter ID:EPDNEW_H9176
Type:initiation region
Name:GCNT2_3
Description:glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9171  EPDNEW_H9172  EPDNEW_H9173  EPDNEW_H9174  EPDNEW_H9175  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38610,585,760 - 10,585,820EPDNEW
RGD ID:6804391
Promoter ID:HG_KWN:52299
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_145649,   OTTHUMT00000328073,   OTTHUMT00000328125,   OTTHUMT00000328126,   OTTHUMT00000328128,   UC003MZA.1,   UC010JOP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36610,629,351 - 10,629,851 (+)MPROMDB
RGD ID:6804258
Promoter ID:HG_KWN:52301
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000328131,   OTTHUMT00000328132,   UC003MZC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36610,636,656 - 10,637,947 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4204 AgrOrtholog
COSMIC GCNT2 COSMIC
Ensembl Genes ENSG00000111846 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285222 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265012 ENTREZGENE
  ENST00000265012.5 UniProtKB/Swiss-Prot
  ENST00000316170 ENTREZGENE
  ENST00000316170.9 UniProtKB/Swiss-Prot
  ENST00000379597 ENTREZGENE
  ENST00000379597.7 UniProtKB/Swiss-Prot
  ENST00000410107.5 UniProtKB/TrEMBL
  ENST00000495262 ENTREZGENE
  ENST00000495262.7 UniProtKB/Swiss-Prot
  ENST00000642698.1 UniProtKB/Swiss-Prot
  ENST00000643503.2 UniProtKB/Swiss-Prot
  ENST00000644083.4 UniProtKB/Swiss-Prot
  ENST00000644492.2 UniProtKB/TrEMBL
  ENST00000645241.1 UniProtKB/TrEMBL
  ENST00000645343.1 UniProtKB/TrEMBL
GTEx ENSG00000111846 GTEx
  ENSG00000285222 GTEx
HGNC ID HGNC:4204 ENTREZGENE
Human Proteome Map GCNT2 Human Proteome Map
InterPro Glyco_trans_14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2651 UniProtKB/Swiss-Prot
NCBI Gene 2651 ENTREZGENE
OMIM 600429 OMIM
PANTHER GLYCOSYLTRANSFERASE 14 FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N-ACETYLLACTOSAMINIDE BETA-1,6-N-ACETYLGLUCOSAMINYL-TRANSFERASE UniProtKB/Swiss-Prot
  N-ACETYLLACTOSAMINIDE BETA-1,6-N-ACETYLGLUCOSAMINYL-TRANSFERASE UniProtKB/TrEMBL
  N-ACETYLLACTOSAMINIDE BETA-1,6-N-ACETYLGLUCOSAMINYL-TRANSFERASE UniProtKB/TrEMBL
Pfam Branch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA169 PharmGKB
UniProt A0AAG2TJ15 ENTREZGENE, UniProtKB/TrEMBL
  A0AAG2TJN9 ENTREZGENE, UniProtKB/TrEMBL
  B7ZBL3_HUMAN UniProtKB/TrEMBL
  GNT2A_HUMAN UniProtKB/Swiss-Prot
  Q06430 ENTREZGENE
  Q08M29 ENTREZGENE, UniProtKB/TrEMBL
  Q5T4J1 ENTREZGENE
  Q5W0E9 ENTREZGENE
  Q6T5E5 ENTREZGENE
  Q8N0V5 ENTREZGENE
  Q8NFS9 ENTREZGENE
  Q8WXK6 ENTREZGENE, UniProtKB/TrEMBL
  Q8WXK7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q06430 UniProtKB/Swiss-Prot
  Q5T4J1 UniProtKB/Swiss-Prot
  Q5W0E9 UniProtKB/Swiss-Prot
  Q6T5E5 UniProtKB/Swiss-Prot
  Q8NFS9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 GCNT2  glucosaminyl (N-acetyl) transferase 2 (I blood group)  GCNT2  glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)  Symbol and/or name change 5135510 APPROVED
2016-04-05 GCNT2  glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)  CCAT  cataract, congenital  Data merged from RGD:1349229 737654 PROVISIONAL