LEFTY2 (left-right determination factor 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: LEFTY2 (left-right determination factor 2) Homo sapiens
Analyze
Symbol: LEFTY2
Name: left-right determination factor 2
RGD ID: 1348079
HGNC Page HGNC:3122
Description: Predicted to enable cytokine activity. Predicted to be involved in anterior/posterior axis specification. Located in collagen-containing extracellular matrix. Implicated in congenital heart disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EBAF; endometrial bleeding associated factor; endometrial bleeding-associated factor; left-right determination factor A; LEFTA; LEFTYA; MGC46222; protein lefty-2; protein lefty-A; TGF-beta-4; TGFB4; transforming growth factor beta-4
RGD Orthologs
Mouse
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LEFTY3P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381225,936,603 - 225,941,220 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1225,936,598 - 225,941,383 (-)EnsemblGRCh38hg38GRCh38
GRCh371226,124,303 - 226,128,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,190,926 - 224,195,543 (-)NCBINCBI36Build 36hg18NCBI36
Build 341222,431,037 - 222,435,655NCBI
Celera1199,315,346 - 199,320,132 (-)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1196,642,011 - 196,646,798 (-)NCBIHuRef
CHM1_11227,396,616 - 227,401,402 (-)NCBICHM1_1
T2T-CHM13v2.01225,124,381 - 225,129,000 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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. Characterization of nodal/TGF-lefty signaling pathway gene variants for possible roles in congenital heart diseases. Deng X, etal., PLoS One. 2014 Aug 11;9(8):e104535. doi: 10.1371/journal.pone.0104535. eCollection 2014.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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. Dysregulated expression of ebaf, a novel molecular defect in the endometria of patients with infertility. Tabibzadeh S, etal., J Clin Endocrinol Metab. 2000 Jul;85(7):2526-36.
7. Circular RNA CREBBP Suppresses Hepatic Fibrosis Via Targeting the hsa-miR-1291/LEFTY2 Axis. Yang YR, etal., Front Pharmacol. 2021 Nov 22;12:741151. doi: 10.3389/fphar.2021.741151. eCollection 2021.
Additional References at PubMed
PMID:3457014   PMID:9153275   PMID:9230066   PMID:9496783   PMID:9665343   PMID:10053005   PMID:10886363   PMID:11100524   PMID:12215426   PMID:12477932   PMID:14702039   PMID:15308665  
PMID:15536155   PMID:16303743   PMID:16344560   PMID:17038673   PMID:20634891   PMID:20734064   PMID:21266536   PMID:21401636   PMID:21873635   PMID:21988832   PMID:22469982   PMID:23658023  
PMID:25814554   PMID:25838200   PMID:27404958   PMID:27497669   PMID:27606670   PMID:28514442   PMID:29268772   PMID:30575724   PMID:32236143   PMID:32745796   PMID:33111989   PMID:33961781  
PMID:37097539  


Genomics

Comparative Map Data
LEFTY2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381225,936,603 - 225,941,220 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1225,936,598 - 225,941,383 (-)EnsemblGRCh38hg38GRCh38
GRCh371226,124,303 - 226,128,920 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361224,190,926 - 224,195,543 (-)NCBINCBI36Build 36hg18NCBI36
Build 341222,431,037 - 222,435,655NCBI
Celera1199,315,346 - 199,320,132 (-)NCBICelera
Cytogenetic Map1q42.12NCBI
HuRef1196,642,011 - 196,646,798 (-)NCBIHuRef
CHM1_11227,396,616 - 227,401,402 (-)NCBICHM1_1
T2T-CHM13v2.01225,124,381 - 225,129,000 (-)NCBIT2T-CHM13v2.0
Lefty2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,720,673 - 180,726,672 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,720,673 - 180,726,668 (+)EnsemblGRCm39 Ensembl
GRCm381180,893,108 - 180,899,107 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,893,108 - 180,899,103 (+)EnsemblGRCm38mm10GRCm38
MGSCv371182,823,250 - 182,829,234 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,729,794 - 182,735,778 (+)NCBIMGSCv36mm8
Celera1187,956,284 - 187,961,909 (+)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.46NCBI
LEFTY2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2123,595,526 - 23,600,725 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1123,544,101 - 23,549,080 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01201,398,235 - 201,402,906 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11206,397,118 - 206,401,948 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1206,397,118 - 206,401,839 (-)Ensemblpanpan1.1panPan2
LOC490387
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,893,456 - 38,898,741 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha738,374,116 - 38,379,043 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0738,725,973 - 38,730,861 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1738,565,731 - 38,570,636 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0738,573,876 - 38,578,786 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0738,843,706 - 38,848,590 (+)NCBIUU_Cfam_GSD_1.0
LEFTY2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1013,848,174 - 13,853,438 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11013,849,052 - 13,853,438 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21015,935,789 - 15,940,181 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103229999
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1253,828,944 - 3,834,679 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl253,830,059 - 3,833,847 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660553,836,858 - 3,841,603 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lefty2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480771,011 - 75,210 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LEFTY2
148 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003240.5(LEFTY2):c.69C>T (p.Thr23=) single nucleotide variant Left-right axis malformations [RCV001459961] Chr1:225941072 [GRCh38]
Chr1:226128772 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.1074G>T (p.Ala358=) single nucleotide variant Left-right axis malformations [RCV000549597] Chr1:225937468 [GRCh38]
Chr1:226125168 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.940C>T (p.Arg314Ter) single nucleotide variant Left-right axis malformations [RCV000008078] Chr1:225937602 [GRCh38]
Chr1:226125302 [GRCh37]
Chr1:1q42.12		 pathogenic|uncertain significance
NM_003240.5(LEFTY2):c.1025G>A (p.Ser342Asn) single nucleotide variant Left-right axis malformations [RCV000008079] Chr1:225937517 [GRCh38]
Chr1:226125217 [GRCh37]
Chr1:1q42.12		 pathogenic|uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.11-42.13(chr1:224096288-227859548)x1 copy number loss See cases [RCV000052311] Chr1:224096288..227859548 [GRCh38]
Chr1:224283990..228047249 [GRCh37]
Chr1:222350613..226113872 [NCBI36]
Chr1:1q42.11-42.13		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
NM_003240.5(LEFTY2):c.324G>A (p.Pro108=) single nucleotide variant Left-right axis malformations [RCV000474712]|not provided [RCV004710535]|not specified [RCV000126613] Chr1:225939929 [GRCh38]
Chr1:226127629 [GRCh37]
Chr1:1q42.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003240.5(LEFTY2):c.497+13C>G single nucleotide variant Left-right axis malformations [RCV000397720]|not provided [RCV004713326]|not specified [RCV000126614] Chr1:225939743 [GRCh38]
Chr1:226127443 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.774C>T (p.Thr258=) single nucleotide variant Left-right axis malformations [RCV000466563]|not provided [RCV004713327]|not specified [RCV000126615] Chr1:225937768 [GRCh38]
Chr1:226125468 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) single nucleotide variant Left-right axis malformations [RCV000467952]|not provided [RCV001573553]|not specified [RCV000126616] Chr1:225937685 [GRCh38]
Chr1:226125385 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.982G>A (p.Val328Ile) single nucleotide variant Left-right axis malformations [RCV000461305]|not provided [RCV004714489]|not specified [RCV000126617] Chr1:225937560 [GRCh38]
Chr1:226125260 [GRCh37]
Chr1:1q42.12		 benign|likely benign
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_003240.5(LEFTY2):c.214C>T (p.Arg72Cys) single nucleotide variant Left-right axis malformations [RCV000861464]|not provided [RCV001753752] Chr1:225940927 [GRCh38]
Chr1:226128627 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.810T>C (p.Ile270=) single nucleotide variant Left-right axis malformations [RCV000397722] Chr1:225937732 [GRCh38]
Chr1:226125432 [GRCh37]
Chr1:1q42.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_003240.5(LEFTY2):c.*730T>C single nucleotide variant Left-right axis malformations [RCV000260078] Chr1:225936711 [GRCh38]
Chr1:226124411 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.1035C>T (p.Asn345=) single nucleotide variant LEFTY2-related disorder [RCV003920200]|Left-right axis malformations [RCV000472797]|not specified [RCV000593234] Chr1:225937507 [GRCh38]
Chr1:226125207 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.330C>T (p.Asn110=) single nucleotide variant Left-right axis malformations [RCV000229178]|not provided [RCV004713421] Chr1:225939923 [GRCh38]
Chr1:226127623 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.371C>G (p.Pro124Arg) single nucleotide variant Left-right axis malformations [RCV000816180] Chr1:225939882 [GRCh38]
Chr1:226127582 [GRCh37]
Chr1:1q42.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_003240.5(LEFTY2):c.727A>G (p.Arg243Gly) single nucleotide variant Left-right axis malformations [RCV001048756] Chr1:225939371 [GRCh38]
Chr1:226127071 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.275C>T (p.Ser92Leu) single nucleotide variant Left-right axis malformations [RCV000332564] Chr1:225939978 [GRCh38]
Chr1:226127678 [GRCh37]
Chr1:1q42.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003240.5(LEFTY2):c.1073C>T (p.Ala358Val) single nucleotide variant Left-right axis malformations [RCV000344010]|not specified [RCV004021428] Chr1:225937469 [GRCh38]
Chr1:226125169 [GRCh37]
Chr1:1q42.12		 likely benign|uncertain significance
NM_003240.5(LEFTY2):c.*571C>G single nucleotide variant Left-right axis malformations [RCV000317507] Chr1:225936870 [GRCh38]
Chr1:226124570 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.425A>G (p.Gln142Arg) single nucleotide variant LEFTY2-related disorder [RCV003910081]|Left-right axis malformations [RCV000472160] Chr1:225939828 [GRCh38]
Chr1:226127528 [GRCh37]
Chr1:1q42.12		 benign|likely benign|uncertain significance
NM_003240.5(LEFTY2):c.375C>T (p.Val125=) single nucleotide variant Left-right axis malformations [RCV001100760]|not specified [RCV000242275] Chr1:225939878 [GRCh38]
Chr1:226127578 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.348C>T (p.Ala116=) single nucleotide variant Left-right axis malformations [RCV001443005]|not specified [RCV000250134] Chr1:225939905 [GRCh38]
Chr1:226127605 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.474C>T (p.Asn158=) single nucleotide variant Left-right axis malformations [RCV000537742]|not specified [RCV000245476] Chr1:225939779 [GRCh38]
Chr1:226127479 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.169G>A (p.Val57Met) single nucleotide variant Left-right axis malformations [RCV000644866]|not provided [RCV001668491]|not specified [RCV000253167] Chr1:225940972 [GRCh38]
Chr1:226128672 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.*496T>G single nucleotide variant Left-right axis malformations [RCV000374488] Chr1:225936945 [GRCh38]
Chr1:226124645 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.*317C>G single nucleotide variant Left-right axis malformations [RCV000292477]|not provided [RCV004710768] Chr1:225937124 [GRCh38]
Chr1:226124824 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.-62C>T single nucleotide variant Left-right axis malformations [RCV000326907] Chr1:225941202 [GRCh38]
Chr1:226128902 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.*229C>T single nucleotide variant Left-right axis malformations [RCV000296054]|not provided [RCV004710769] Chr1:225937212 [GRCh38]
Chr1:226124912 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.*279G>A single nucleotide variant Left-right axis malformations [RCV000331080] Chr1:225937162 [GRCh38]
Chr1:226124862 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.424C>G (p.Gln142Glu) single nucleotide variant Left-right axis malformations [RCV000261956] Chr1:225939829 [GRCh38]
Chr1:226127529 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.4(LEFTY2):c.-225C>T single nucleotide variant Visceral heterotaxy [RCV000291786] Chr1:225941365 [GRCh38]
Chr1:226129065 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.4(LEFTY2):c.-222C>A single nucleotide variant Visceral heterotaxy [RCV000383720] Chr1:225941362 [GRCh38]
Chr1:226129062 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.*260C>T single nucleotide variant Left-right axis malformations [RCV000388026] Chr1:225937181 [GRCh38]
Chr1:226124881 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_003240.5(LEFTY2):c.1007C>G (p.Thr336Ser) single nucleotide variant Left-right axis malformations [RCV000462854] Chr1:225937535 [GRCh38]
Chr1:226125235 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr) single nucleotide variant not provided [RCV000483879]|not specified [RCV002248698] Chr1:225937512 [GRCh38]
Chr1:226125212 [GRCh37]
Chr1:1q42.12		 likely pathogenic|uncertain significance
NM_003240.5(LEFTY2):c.114C>T (p.Ser38=) single nucleotide variant Left-right axis malformations [RCV000456894] Chr1:225941027 [GRCh38]
Chr1:226128727 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.1036A>C (p.Met346Leu) single nucleotide variant Left-right axis malformations [RCV000475852] Chr1:225937506 [GRCh38]
Chr1:226125206 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.903G>A (p.Pro301=) single nucleotide variant Left-right axis malformations [RCV000466139]|not provided [RCV004714024] Chr1:225937639 [GRCh38]
Chr1:226125339 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_003240.5(LEFTY2):c.54C>T (p.Pro18=) single nucleotide variant LEFTY2-related disorder [RCV003953152]|Left-right axis malformations [RCV000644867] Chr1:225941087 [GRCh38]
Chr1:226128787 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.198G>A (p.Arg66=) single nucleotide variant Left-right axis malformations [RCV000644865] Chr1:225940943 [GRCh38]
Chr1:226128643 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.304G>C (p.Gly102Arg) single nucleotide variant Left-right axis malformations [RCV000557294] Chr1:225939949 [GRCh38]
Chr1:226127649 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.835A>G (p.Lys279Glu) single nucleotide variant Left-right axis malformations [RCV000644864] Chr1:225937707 [GRCh38]
Chr1:226125407 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.793C>T (p.Arg265Cys) single nucleotide variant Left-right axis malformations [RCV000644863] Chr1:225937749 [GRCh38]
Chr1:226125449 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NM_003240.5(LEFTY2):c.669G>T (p.Ser223=) single nucleotide variant Left-right axis malformations [RCV003619726] Chr1:225939429 [GRCh38]
Chr1:226127129 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.162C>T (p.Pro54=) single nucleotide variant Left-right axis malformations [RCV001416567] Chr1:225940979 [GRCh38]
Chr1:226128679 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.276G>C (p.Ser92=) single nucleotide variant Left-right axis malformations [RCV001484145] Chr1:225939977 [GRCh38]
Chr1:226127677 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.630G>A (p.Pro210=) single nucleotide variant not provided [RCV000923843] Chr1:225939468 [GRCh38]
Chr1:226127168 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.759T>C (p.Pro253=) single nucleotide variant not provided [RCV000982173] Chr1:225937783 [GRCh38]
Chr1:226125483 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.258C>T (p.Ala86=) single nucleotide variant not provided [RCV000876997] Chr1:225939995 [GRCh38]
Chr1:226127695 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.138C>T (p.Ala46=) single nucleotide variant Left-right axis malformations [RCV000863689] Chr1:225941003 [GRCh38]
Chr1:226128703 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.639C>T (p.Ser213=) single nucleotide variant LEFTY2-related disorder [RCV003965702]|Left-right axis malformations [RCV000865889] Chr1:225939459 [GRCh38]
Chr1:226127159 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.90C>T (p.Ser30=) single nucleotide variant Left-right axis malformations [RCV000878389] Chr1:225941051 [GRCh38]
Chr1:226128751 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.952G>A (p.Ala318Thr) single nucleotide variant Left-right axis malformations [RCV001050633] Chr1:225937590 [GRCh38]
Chr1:226125290 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.11:g.(?_225937431)_(225940012_?)dup duplication Left-right axis malformations [RCV001033186] Chr1:226125131..226127712 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.1071G>A (p.Gly357=) single nucleotide variant Left-right axis malformations [RCV001511863] Chr1:225937471 [GRCh38]
Chr1:226125171 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.1077C>T (p.Leu359=) single nucleotide variant Left-right axis malformations [RCV000861123] Chr1:225937465 [GRCh38]
Chr1:226125165 [GRCh37]
Chr1:1q42.12		 benign|likely benign
NM_003240.5(LEFTY2):c.89G>T (p.Ser30Ile) single nucleotide variant not specified [RCV004313705] Chr1:225941052 [GRCh38]
Chr1:226128752 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.1066G>A (p.Asp356Asn) single nucleotide variant LEFTY2-related disorder [RCV004754571]|Left-right axis malformations [RCV000812132]|not specified [RCV004028759] Chr1:225937476 [GRCh38]
Chr1:226125176 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_003240.5(LEFTY2):c.405G>A (p.Arg135=) single nucleotide variant Left-right axis malformations [RCV000977948] Chr1:225939848 [GRCh38]
Chr1:226127548 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.748G>A (p.Asp250Asn) single nucleotide variant Left-right axis malformations [RCV001098944] Chr1:225937794 [GRCh38]
Chr1:226125494 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh37/hg19 1q42.12(chr1:226028473-226226752)x3 copy number gain not provided [RCV000848242] Chr1:226028473..226226752 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_003240.5(LEFTY2):c.890G>A (p.Cys297Tyr) single nucleotide variant Left-right axis malformations [RCV001205742] Chr1:225937652 [GRCh38]
Chr1:226125352 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.*571C>T single nucleotide variant Left-right axis malformations [RCV001100658] Chr1:225936870 [GRCh38]
Chr1:226124570 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.938C>T (p.Pro313Leu) single nucleotide variant Left-right axis malformations [RCV001097188] Chr1:225937604 [GRCh38]
Chr1:226125304 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.250+27C>T single nucleotide variant not provided [RCV001709993] Chr1:225940864 [GRCh38]
Chr1:226128564 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.873C>T (p.Tyr291=) single nucleotide variant Left-right axis malformations [RCV000863582] Chr1:225937669 [GRCh38]
Chr1:226125369 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.636G>C (p.Ala212=) single nucleotide variant Left-right axis malformations [RCV000981352] Chr1:225939462 [GRCh38]
Chr1:226127162 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.*36G>A single nucleotide variant Left-right axis malformations [RCV001100930] Chr1:225937405 [GRCh38]
Chr1:226125105 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.389T>G (p.Leu130Arg) single nucleotide variant Left-right axis malformations [RCV001228086]|not specified [RCV004032627] Chr1:225939864 [GRCh38]
Chr1:226127564 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q42.12(chr1:226064744-226924455)x3 copy number gain not provided [RCV001005183] Chr1:226064744..226924455 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.738-113T>C single nucleotide variant not provided [RCV001688720] Chr1:225937917 [GRCh38]
Chr1:226125617 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.251-44G>C single nucleotide variant not provided [RCV001594728] Chr1:225940046 [GRCh38]
Chr1:226127746 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_003240.5(LEFTY2):c.*64T>A single nucleotide variant Left-right axis malformations [RCV001100929] Chr1:225937377 [GRCh38]
Chr1:226125077 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.738-40dup duplication not provided [RCV001684517] Chr1:225937843..225937844 [GRCh38]
Chr1:226125543..226125544 [GRCh37]
Chr1:1q42.12		 benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_003240.5(LEFTY2):c.738-9C>T single nucleotide variant Left-right axis malformations [RCV001098945] Chr1:225937813 [GRCh38]
Chr1:226125513 [GRCh37]
Chr1:1q42.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_003240.5(LEFTY2):c.494C>T (p.Ser165Phe) single nucleotide variant Left-right axis malformations [RCV001098946] Chr1:225939759 [GRCh38]
Chr1:226127459 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.11:g.(?_225937421)_(225940022_?)dup duplication Left-right axis malformations [RCV001032207] Chr1:226125121..226127722 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.530C>T (p.Ala177Val) single nucleotide variant Left-right axis malformations [RCV001204372] Chr1:225939568 [GRCh38]
Chr1:226127268 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.348C>A (p.Ala116=) single nucleotide variant LEFTY2-related disorder [RCV003945809]|Left-right axis malformations [RCV001100761] Chr1:225939905 [GRCh38]
Chr1:226127605 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.*150T>G single nucleotide variant Left-right axis malformations [RCV001100928] Chr1:225937291 [GRCh38]
Chr1:226124991 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.*297A>T single nucleotide variant Left-right axis malformations [RCV001100927] Chr1:225937144 [GRCh38]
Chr1:226124844 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.75G>A (p.Glu25=) single nucleotide variant Left-right axis malformations [RCV001101019] Chr1:225941066 [GRCh38]
Chr1:226128766 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.-2C>T single nucleotide variant Left-right axis malformations [RCV001101020] Chr1:225941142 [GRCh38]
Chr1:226128842 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.737+333G>A single nucleotide variant not provided [RCV001642057] Chr1:225939028 [GRCh38]
Chr1:226126728 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.790T>C (p.Cys264Arg) single nucleotide variant Left-right axis malformations [RCV001316183] Chr1:225937752 [GRCh38]
Chr1:226125452 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.124G>A (p.Val42Ile) single nucleotide variant Left-right axis malformations [RCV001348886] Chr1:225941017 [GRCh38]
Chr1:226128717 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.598C>G (p.Gln200Glu) single nucleotide variant Left-right axis malformations [RCV001302101]|not specified [RCV004036227] Chr1:225939500 [GRCh38]
Chr1:226127200 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_003240.5(LEFTY2):c.850G>A (p.Glu284Lys) single nucleotide variant Left-right axis malformations [RCV001360059] Chr1:225937692 [GRCh38]
Chr1:226125392 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.580del (p.Arg194fs) deletion Left-right axis malformations [RCV001358947] Chr1:225939518 [GRCh38]
Chr1:226127218 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.400G>A (p.Gly134Arg) single nucleotide variant Left-right axis malformations [RCV001342088] Chr1:225939853 [GRCh38]
Chr1:226127553 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_226125121)_(226128860_?)dup duplication Left-right axis malformations [RCV001319581] Chr1:226125121..226128860 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.81C>T (p.Leu27=) single nucleotide variant Left-right axis malformations [RCV001435763] Chr1:225941060 [GRCh38]
Chr1:226128760 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.828G>A (p.Lys276=) single nucleotide variant Left-right axis malformations [RCV001505731] Chr1:225937714 [GRCh38]
Chr1:226125414 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.738-235del deletion not provided [RCV001696637] Chr1:225938039 [GRCh38]
Chr1:226125739 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.250+221del deletion not provided [RCV001652880] Chr1:225940670 [GRCh38]
Chr1:226128370 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.513C>T (p.His171=) single nucleotide variant Left-right axis malformations [RCV001470121] Chr1:225939585 [GRCh38]
Chr1:226127285 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.60G>A (p.Ala20=) single nucleotide variant Left-right axis malformations [RCV001519675]|not provided [RCV004715463] Chr1:225941081 [GRCh38]
Chr1:226128781 [GRCh37]
Chr1:1q42.12		 benign
NM_003240.5(LEFTY2):c.621T>C (p.His207=) single nucleotide variant Left-right axis malformations [RCV001463146] Chr1:225939477 [GRCh38]
Chr1:226127177 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.858G>A (p.Pro286=) single nucleotide variant Left-right axis malformations [RCV001438510] Chr1:225937684 [GRCh38]
Chr1:226125384 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.372G>C (p.Pro124=) single nucleotide variant Left-right axis malformations [RCV001479240] Chr1:225939881 [GRCh38]
Chr1:226127581 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.223G>A (p.Gly75Arg) single nucleotide variant not provided [RCV001796936] Chr1:225940918 [GRCh38]
Chr1:226128618 [GRCh37]
Chr1:1q42.12		 likely benign
NC_000001.10:g.(?_225591005)_(227174438_?)dup duplication not provided [RCV001928108] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13		 pathogenic
NM_003240.5(LEFTY2):c.356G>A (p.Arg119Gln) single nucleotide variant Left-right axis malformations [RCV001913896] Chr1:225939897 [GRCh38]
Chr1:226127597 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.994G>A (p.Glu332Lys) single nucleotide variant Left-right axis malformations [RCV001909351] Chr1:225937548 [GRCh38]
Chr1:226125248 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.775G>A (p.Glu259Lys) single nucleotide variant Left-right axis malformations [RCV001912979] Chr1:225937767 [GRCh38]
Chr1:226125467 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.737G>C (p.Gly246Ala) single nucleotide variant Left-right axis malformations [RCV002037537] Chr1:225939361 [GRCh38]
Chr1:226127061 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.997G>A (p.Gly333Arg) single nucleotide variant Left-right axis malformations [RCV002030574] Chr1:225937545 [GRCh38]
Chr1:226125245 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.200G>A (p.Arg67His) single nucleotide variant Left-right axis malformations [RCV001899755] Chr1:225940941 [GRCh38]
Chr1:226128641 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.453C>T (p.Arg151=) single nucleotide variant Left-right axis malformations [RCV002169971] Chr1:225939800 [GRCh38]
Chr1:226127500 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.631C>T (p.Leu211=) single nucleotide variant Left-right axis malformations [RCV002173249] Chr1:225939467 [GRCh38]
Chr1:226127167 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.138C>G (p.Ala46=) single nucleotide variant Left-right axis malformations [RCV002201327] Chr1:225941003 [GRCh38]
Chr1:226128703 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.247C>G (p.Arg83Gly) single nucleotide variant LEFTY2-related disorder [RCV003393098] Chr1:225940894 [GRCh38]
Chr1:226128594 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_226125141)_(226128840_?)dup duplication Left-right axis malformations [RCV003113243] Chr1:226125141..226128840 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_003240.5(LEFTY2):c.887C>T (p.Thr296Ile) single nucleotide variant Left-right axis malformations [RCV002299911] Chr1:225937655 [GRCh38]
Chr1:226125355 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.724_725delinsTC (p.Leu242Ser) indel Left-right axis malformations [RCV002294868] Chr1:225939373..225939374 [GRCh38]
Chr1:226127073..226127074 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.969G>A (p.Ser323=) single nucleotide variant Left-right axis malformations [RCV002947120] Chr1:225937573 [GRCh38]
Chr1:226125273 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_003240.5(LEFTY2):c.59C>T (p.Ala20Val) single nucleotide variant not specified [RCV004137777] Chr1:225941082 [GRCh38]
Chr1:226128782 [GRCh37]
Chr1:1q42.12		 likely benign
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
NM_003240.5(LEFTY2):c.968C>T (p.Ser323Leu) single nucleotide variant not specified [RCV004212075] Chr1:225937574 [GRCh38]
Chr1:226125274 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.300G>A (p.Val100=) single nucleotide variant Left-right axis malformations [RCV002926860] Chr1:225939953 [GRCh38]
Chr1:226127653 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.97C>T (p.Arg33Trp) single nucleotide variant not specified [RCV004120762] Chr1:225941044 [GRCh38]
Chr1:226128744 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.486C>T (p.Leu162=) single nucleotide variant Left-right axis malformations [RCV003085961] Chr1:225939767 [GRCh38]
Chr1:226127467 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.357G>T (p.Arg119=) single nucleotide variant Left-right axis malformations [RCV003085962] Chr1:225939896 [GRCh38]
Chr1:226127596 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_003240.5(LEFTY2):c.168C>T (p.His56=) single nucleotide variant Left-right axis malformations [RCV002667882] Chr1:225940973 [GRCh38]
Chr1:226128673 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.791G>A (p.Cys264Tyr) single nucleotide variant Left-right axis malformations [RCV002890208] Chr1:225937751 [GRCh38]
Chr1:226125451 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.497+14_497+15insGTCGCGG insertion Left-right axis malformations [RCV002985710] Chr1:225939741..225939742 [GRCh38]
Chr1:226127441..226127442 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.714C>A (p.His238Gln) single nucleotide variant not specified [RCV004132380] Chr1:225939384 [GRCh38]
Chr1:226127084 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.556T>G (p.Phe186Val) single nucleotide variant Left-right axis malformations [RCV003090371] Chr1:225939542 [GRCh38]
Chr1:226127242 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.628C>T (p.Pro210Ser) single nucleotide variant Left-right axis malformations [RCV002856198]|not specified [RCV004642050] Chr1:225939470 [GRCh38]
Chr1:226127170 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.738-18C>T single nucleotide variant Left-right axis malformations [RCV003060594] Chr1:225937822 [GRCh38]
Chr1:226125522 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.760G>A (p.Glu254Lys) single nucleotide variant Left-right axis malformations [RCV002966493] Chr1:225937782 [GRCh38]
Chr1:226125482 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.902C>T (p.Pro301Leu) single nucleotide variant Left-right axis malformations [RCV002585691] Chr1:225937640 [GRCh38]
Chr1:226125340 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.163G>A (p.Ala55Thr) single nucleotide variant Left-right axis malformations [RCV002612416] Chr1:225940978 [GRCh38]
Chr1:226128678 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.487A>C (p.Ile163Leu) single nucleotide variant not specified [RCV004270499] Chr1:225939766 [GRCh38]
Chr1:226127466 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.420C>G (p.Ser140Arg) single nucleotide variant not specified [RCV004284755] Chr1:225939833 [GRCh38]
Chr1:226127533 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.118G>T (p.Val40Leu) single nucleotide variant LEFTY2-related disorder [RCV003416792] Chr1:225941023 [GRCh38]
Chr1:226128723 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.747C>T (p.Gly249=) single nucleotide variant LEFTY2-related disorder [RCV003984375]|Left-right axis malformations [RCV003509844] Chr1:225937795 [GRCh38]
Chr1:226125495 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.463G>T (p.Asp155Tyr) single nucleotide variant Left-right axis malformations [RCV003511256] Chr1:225939790 [GRCh38]
Chr1:226127490 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.788G>A (p.Cys263Tyr) single nucleotide variant Left-right axis malformations [RCV003879771] Chr1:225937754 [GRCh38]
Chr1:226125454 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.484C>T (p.Leu162Phe) single nucleotide variant Left-right axis malformations [RCV003511054] Chr1:225939769 [GRCh38]
Chr1:226127469 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.197G>T (p.Arg66Leu) single nucleotide variant Left-right axis malformations [RCV003877821] Chr1:225940944 [GRCh38]
Chr1:226128644 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.498-19C>G single nucleotide variant Left-right axis malformations [RCV003509099] Chr1:225939619 [GRCh38]
Chr1:226127319 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.1041G>T (p.Arg347Ser) single nucleotide variant Left-right axis malformations [RCV003881117] Chr1:225937501 [GRCh38]
Chr1:226125201 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.754G>A (p.Asp252Asn) single nucleotide variant not provided [RCV003488003] Chr1:225937788 [GRCh38]
Chr1:226125488 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.73G>A (p.Glu25Lys) single nucleotide variant Left-right axis malformations [RCV003879322] Chr1:225941068 [GRCh38]
Chr1:226128768 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.957G>A (p.Ser319=) single nucleotide variant Left-right axis malformations [RCV003619194] Chr1:225937585 [GRCh38]
Chr1:226125285 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.303C>T (p.Phe101=) single nucleotide variant Left-right axis malformations [RCV003619417] Chr1:225939950 [GRCh38]
Chr1:226127650 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.571A>T (p.Ser191Cys) single nucleotide variant Left-right axis malformations [RCV003620622]|not specified [RCV004636795] Chr1:225939527 [GRCh38]
Chr1:226127227 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.443A>G (p.Glu148Gly) single nucleotide variant Left-right axis malformations [RCV003620855] Chr1:225939810 [GRCh38]
Chr1:226127510 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.498-17T>C single nucleotide variant Left-right axis malformations [RCV003620191] Chr1:225939617 [GRCh38]
Chr1:226127317 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.348C>G (p.Ala116=) single nucleotide variant Left-right axis malformations [RCV003619441] Chr1:225939905 [GRCh38]
Chr1:226127605 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.199C>T (p.Arg67Cys) single nucleotide variant Left-right axis malformations [RCV003619497] Chr1:225940942 [GRCh38]
Chr1:226128642 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.1047G>T (p.Gln349His) single nucleotide variant Left-right axis malformations [RCV003619479] Chr1:225937495 [GRCh38]
Chr1:226125195 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.879T>A (p.Cys293Ter) single nucleotide variant Left-right axis malformations [RCV003620247] Chr1:225937663 [GRCh38]
Chr1:226125363 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.773C>T (p.Thr258Ile) single nucleotide variant Left-right axis malformations [RCV003619953] Chr1:225937769 [GRCh38]
Chr1:226125469 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.877T>G (p.Cys293Gly) single nucleotide variant Left-right axis malformations [RCV003814426] Chr1:225937665 [GRCh38]
Chr1:226125365 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.770T>C (p.Met257Thr) single nucleotide variant Left-right axis malformations [RCV003620349] Chr1:225937772 [GRCh38]
Chr1:226125472 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.303C>G (p.Phe101Leu) single nucleotide variant Left-right axis malformations [RCV003621365] Chr1:225939950 [GRCh38]
Chr1:226127650 [GRCh37]
Chr1:1q42.12		 uncertain significance
GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1 copy number loss not provided [RCV004442774] Chr1:216147522..226765691 [GRCh37]
Chr1:1q41-42.12		 pathogenic
NM_003240.5(LEFTY2):c.492C>T (p.Asp164=) single nucleotide variant LEFTY2-related disorder [RCV003897193] Chr1:225939761 [GRCh38]
Chr1:226127461 [GRCh37]
Chr1:1q42.12		 likely benign
NM_003240.5(LEFTY2):c.1064C>T (p.Ser355Leu) single nucleotide variant not specified [RCV004412697] Chr1:225937478 [GRCh38]
Chr1:226125178 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.1075C>T (p.Leu359Phe) single nucleotide variant not specified [RCV004412698] Chr1:225937467 [GRCh38]
Chr1:226125167 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.56G>C (p.Gly19Ala) single nucleotide variant not specified [RCV004412699] Chr1:225941085 [GRCh38]
Chr1:226128785 [GRCh37]
Chr1:1q42.12		 uncertain significance
NM_003240.5(LEFTY2):c.926C>G (p.Pro309Arg) single nucleotide variant not specified [RCV004642320] Chr1:225937616 [GRCh38]
Chr1:226125316 [GRCh37]
Chr1:1q42.12		 uncertain significance
NC_000001.10:g.(?_225591005)_(227174438_?)del deletion not provided [RCV004579153] Chr1:225591005..227174438 [GRCh37]
Chr1:1q42.12-42.13		 pathogenic
NM_003240.5(LEFTY2):c.908C>T (p.Ala303Val) single nucleotide variant not specified [RCV004642321] Chr1:225937634 [GRCh38]
Chr1:226125334 [GRCh37]
Chr1:1q42.12		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR302Ahsa-miR-302a-5pMirecordsexternal_infoNANA19386261

Predicted Target Of
Summary Value
Count of predictions:1357
Count of miRNA genes:616
Interacting mature miRNAs:700
Transcripts:ENST00000366820, ENST00000420304, ENST00000474493
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.

Markers in Region
EBAF_62  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371226,124,223 - 226,125,024UniSTSGRCh37
Build 361224,190,846 - 224,191,647RGDNCBI36
Celera1199,315,271 - 199,316,072RGD
HuRef1196,641,936 - 196,642,737UniSTS


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
visual system
1177 2241 2673 2223 4593 1443 1885 3 411 1153 257 2089 5996 5562 18 3501 703 1643 1364 157 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA922485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF081513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA269806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U81523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000366820   ⟹   ENSP00000355785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,936,603 - 225,941,220 (-)Ensembl
Ensembl Acc Id: ENST00000420304   ⟹   ENSP00000388009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,936,598 - 225,941,383 (-)Ensembl
Ensembl Acc Id: ENST00000474493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1225,939,432 - 225,940,101 (-)Ensembl
RefSeq Acc Id: NM_001172425   ⟹   NP_001165896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,936,603 - 225,941,220 (-)NCBI
GRCh371226,124,298 - 226,129,083 (-)ENTREZGENE
HuRef1196,642,011 - 196,646,798 (-)ENTREZGENE
CHM1_11227,396,616 - 227,401,402 (-)NCBI
T2T-CHM13v2.01225,124,381 - 225,129,000 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003240   ⟹   NP_003231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,936,603 - 225,941,220 (-)NCBI
GRCh371226,124,298 - 226,129,083 (-)ENTREZGENE
Build 361224,190,926 - 224,195,543 (-)NCBI Archive
HuRef1196,642,011 - 196,646,798 (-)ENTREZGENE
CHM1_11227,396,616 - 227,401,402 (-)NCBI
T2T-CHM13v2.01225,124,381 - 225,129,000 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544266   ⟹   XP_011542568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381225,936,603 - 225,941,220 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054338528   ⟹   XP_054194503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01225,124,381 - 225,129,000 (-)NCBI
RefSeq Acc Id: NP_001165896   ⟸   NM_001172425
- Peptide Label: isoform 2 precursor
- UniProtKB: O00292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003231   ⟸   NM_003240
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q5TE89 (UniProtKB/Swiss-Prot),   O75611 (UniProtKB/Swiss-Prot),   E9PDM4 (UniProtKB/Swiss-Prot),   B4E332 (UniProtKB/Swiss-Prot),   B3KNH4 (UniProtKB/Swiss-Prot),   Q8NBQ9 (UniProtKB/Swiss-Prot),   O00292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542568   ⟸   XM_011544266
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000355785   ⟸   ENST00000366820
Ensembl Acc Id: ENSP00000388009   ⟸   ENST00000420304
RefSeq Acc Id: XP_054194503   ⟸   XM_054338528
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00292-F1-model_v2 AlphaFold O00292 1-366 view protein structure

Promoters
RGD ID:6859128
Promoter ID:EPDNEW_H2729
Type:initiation region
Name:LEFTY2_1
Description:left-right determination factor 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
GRCh381225,941,220 - 225,941,280EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3122 AgrOrtholog
COSMIC LEFTY2 COSMIC
Ensembl Genes ENSG00000143768 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366820 ENTREZGENE
  ENST00000366820.10 UniProtKB/Swiss-Prot
  ENST00000420304 ENTREZGENE
  ENST00000420304.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot
  2.60.120.970 UniProtKB/Swiss-Prot
GTEx ENSG00000143768 GTEx
HGNC ID HGNC:3122 ENTREZGENE
Human Proteome Map LEFTY2 Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot
  LRDF UniProtKB/Swiss-Prot
  TGF-b_C UniProtKB/Swiss-Prot
  TGF-b_propeptide UniProtKB/Swiss-Prot
  TGF-beta-rel UniProtKB/Swiss-Prot
  TGFb_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7044 UniProtKB/Swiss-Prot
NCBI Gene 7044 ENTREZGENE
OMIM 601877 OMIM
PANTHER LEFT-RIGHT DETERMINATION FACTOR 2 UniProtKB/Swiss-Prot
  PTHR11848 UniProtKB/Swiss-Prot
Pfam TGF_beta UniProtKB/Swiss-Prot
  TGFb_propeptide UniProtKB/Swiss-Prot
PharmGKB PA27580 PharmGKB
PIRSF TGFb4 UniProtKB/Swiss-Prot
PRINTS TGFBETA4 UniProtKB/Swiss-Prot
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot
  TGF_BETA_2 UniProtKB/Swiss-Prot
SMART TGFB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot
UniProt B3KNH4 ENTREZGENE
  B4E332 ENTREZGENE
  E9PDM4 ENTREZGENE
  LFTY2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O75611 ENTREZGENE
  Q5TE89 ENTREZGENE
  Q8NBQ9 ENTREZGENE
UniProt Secondary B3KNH4 UniProtKB/Swiss-Prot
  B4E332 UniProtKB/Swiss-Prot
  E9PDM4 UniProtKB/Swiss-Prot
  O75611 UniProtKB/Swiss-Prot
  Q5TE89 UniProtKB/Swiss-Prot
  Q8NBQ9 UniProtKB/Swiss-Prot